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6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Respiratory-System
|
RESP
|
[] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Musculoskeletal-System
|
MSK
|
[
"low height for age",
"Skeletal examination was normal"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"bilateral hearing loss was present since 5 years of age",
"proptosis,",
"Auditory evaluation revealed bilateral sensorineural hearing loss"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Dermatology
|
DERM
|
[
"hyperpigmentation over the thighs",
"skin thickening over the buttocks, thighs, and legs",
"proptosis, webbing of neck",
"well - defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally",
"Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Pregnancy
|
Pregnancy
|
[] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Lymphatic-System
|
LYMPH
|
[
"webbing of neck"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"12 - year - old"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"birth"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"we made the diagnosis of H syndrome"
] |
6536078
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of legs. History of bilateral hearing loss was present since 5 years of age, and her other developmental milestones were normal. She had attained her menarche at 11 years of age and has had regular menstrual cycles. There was no history of a similar illness in the family. Her general physical examination showed low height for age, proptosis, webbing of neck, hepatomegaly, and normal genitalia. Skeletal examination was normal. Auditory evaluation revealed bilateral sensorineural hearing loss. On mucocutaneous examination well-defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Similar lesions were present over the gluteal region bilaterally. Routine laboratory investigations revealed ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g/dl, and a platelet count of 5.14 lakhs/cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, fasting, and post-prandial blood sugar levels were normal. Anti-nuclear antibodies’ titer was negative. Skin biopsy showed thickened collagen bundles with lymphocytic and histiocytic infiltrates in the dermis extending to the subcutaneous tissue with few areas of fibrosis. Immunohistochemistry studies showed CD68 positivity in dermal perivascular histiocytic infiltrate. An ultrasound abdomen revealed hepatomegaly. Chest radiography was normal, and an echocardiography revealed anomalous drainage of left pulmonary vein to innominate vein. In view of the constellation of findings summarized in Table 1, we made the diagnosis of H syndrome.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Gastrointestinal-System
|
GI
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Patient-History
|
History
|
[
"A 52 - year - old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication ( Timolol 2 / day ) was referred to our service to assess the performance of a keratoplasty"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Neurology
|
Neuro
|
[
"epilepsy"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"double homozygous for CEP"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Cardiovascular-System
|
CVS
|
[
"hypertension"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Endocrinology
|
ENDO
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Genitourinary-System
|
GU
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Respiratory-System
|
RESP
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Musculoskeletal-System
|
MSK
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"glaucoma",
"central corneal conjunctivalization of the right eye ( OD ) and the onset of inferior conjunctivalization of the left eye ( OS ). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes ( OU",
"visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6 mm Hg. On slit - lamp examination, the patient presented tear break - up time ( TBUT ) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation ( grade III ) in the Oxford Squeme",
"reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal ( grade I ) in the Oxford Squeme"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Dermatology
|
DERM
|
[
"intense dermatological lesions on the face and extremities"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Pregnancy
|
Pregnancy
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"52 - year - old"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CEP"
] |
6786212
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extremities. The patient is double homozygous for CEP. She had been followed in another center because of central corneal conjunctivalization of the right eye (OD) and the onset of inferior conjunctivalization of the left eye (OS). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes (OU). She had only been treated with artificial tears and lubricant ointments and eyelid hygiene. Exploration revealed a visual acuity of 0.16 OD and 0.4 OS. Intraocular pressure in OU was 1 6mm Hg. On slit-lamp examination, the patient presented tear break-up time (TBUT) inferior to 1 second, central corneal pannus in OD, and lower epithelial irregularity with less severe conjunctivalization in OS; associated with scales and keratinization of the eyelid margin and complete atrophy of Meibomian glands. Schirmer test value without topical anesthesia was 3 mm in OD and 15 mm in OS. Fluorescein staining was positive with moderate affectation (grade III) in the Oxford Squeme. We suggested adding medical treatment with autologous serum 6 times a day or more as needed, cyclosporine 0.05% twice a day, topical steroids, and an ointment with vitamin A without preservatives and with anti-ultraviolet A radiation filter. After 4 months of treatment, the patient reported less eye discomfort and bothering with the only remaining signs being conjunctival hyperemia and corneal conjunctivalization. Foreign body sensation and ocular discomfort have decreased and the progress of ocular involvement seems to have slowed down, TBUT persists up to 3 seconds, and fluorescein staining has decreased to minimal (grade I) in the Oxford Squeme. After considering the possibility of performing a keratoplasty, we decided to wait longer until a better state of the ocular surface is achieved. To get more guarantees of avoiding graft rejection, we have proposed treating before corneal neovascularization (with fine needle cauterization). When possible, we will try a deep anterior lamellar keratoplasty (DALK), covering with amniotic membrane and lateral permanent tarsorrhaphy.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"height was 133 centimeters. Her blood pressure was 140/88",
"His height was in the fifth centile. His blood pressure was 130/80 mm Hg",
"His final height was 139 centimeters"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Gastrointestinal-System
|
GI
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Patient-History
|
History
|
[
"was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation.",
"Feminizing genitoplasty ( clitoral reccesion ) was performed at the age of 16 years",
"Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Neurology
|
Neuro
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"normal female karyotype and normal electrolytes. An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline cortisol ( F ) level of 28 nmol / L, ACTH of 201 ng / mL ( normal, 0–46 ), 11 - deoxycorticosterone ( 11 - DOC ) of 20 nmol / L ( normal, 0.49–3.3 ), 17 - hydroxyprogesterone ( 17 - OHP ) of 17 nmol / L and testosterone ( T ) of 7 nmol / L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol / L, the 11 - DOC level was 141 nmol / L ( normal, 2.2–6.8 ) and the 17 - OHP level was 22 nmol / L.",
"Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X - ray",
"normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol / L, an ACTH of 231 ng / mL, 11 - DOC of 40 nmol / L, 17 - OHP of 18 nmol / L and a T level of 7 nmol / L. Sixty minutes after ACTH stimulation, the F level was 45 nmol / L, 11 - DOC was 114 nmol / L and 17 - OHP was 20 nmol / L.",
"Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Cardiovascular-System
|
CVS
|
[
"Her blood pressure was 140/88.",
"His blood pressure was 130/80 mm Hg."
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Endocrinology
|
ENDO
|
[
"severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds",
"started to have irregular menstruation",
"short male - looking",
"Tanner stage IV breast development",
"An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline cortisol ( F ) level of 28 nmol / L, ACTH of 201 ng / mL ( normal, 0–46 ), 11 - deoxycorticosterone ( 11 - DOC ) of 20 nmol / L ( normal, 0.49–3.3 ), 17 - hydroxyprogesterone ( 17 - OHP ) of 17 nmol / L and testosterone ( T ) of 7 nmol / L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol / L, the 11 - DOC level was 141 nmol / L ( normal, 2.2–6.8 ) and the 17 - OHP level was 22 nmol / L.",
"closed epiphyses on a bone age X - ray.",
"short stature, a masculine appearance",
"Tanner stage IV pubic hair and stage II breast development",
"An ACTH stimulation test showed a baseline F level of 42 nmol / L, an ACTH of 231 ng / mL, 11 - DOC of 40 nmol / L, 17 - OHP of 18 nmol / L and a T level of 7 nmol / L. Sixty minutes after ACTH stimulation, the F level was 45 nmol / L, 11 - DOC was 114 nmol / L and 17 - OHP was 20 nmol / L.",
"bone age of 16 years"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Genitourinary-System
|
GU
|
[
"severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds",
"Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable",
"normal uterus and fallopian tubes on ultrasound",
"cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus",
"named as a boy based on the appearance of the external genitalia",
"Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable",
"normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Respiratory-System
|
RESP
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Musculoskeletal-System
|
MSK
|
[
"closed epiphyses on a bone age X - ray",
"bone age of 16 years"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Dermatology
|
DERM
|
[
"acne",
"acne"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Pregnancy
|
Pregnancy
|
[
"She was a product of a full - term spontaneous vaginal delivery at home",
"He was born at home"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"20 years old"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"she was diagnosed as having 11 - hydroxylase deficiency",
"He was diagnosed as having 11 - hydroxylase deficiency"
] |
6074433
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice was sought at that time. Her parents reported that she had behaved as a female since early childhood. She was interested in playing with girls and in girl’s games, although she studied at male schools. She spent most of her time with her girlfriends and felt most comfortable when she dressed as a female. She was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation. Physical examination showed a short male-looking adolescent with acne and Tanner stage IV breast development. Her height was 133 centimeters. Her blood pressure was 140/88. Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An adrenocorticotropic hormone (ACTH) stimulation test showed a baseline cortisol (F) level of 28 nmol/L, ACTH of 201 ng/mL (normal, 0–46), 11-deoxycorticosterone (11-DOC) of 20 nmol/L (normal, 0.49–3.3), 17-hydroxyprogesterone (17-OHP) of 17 nmol/L and testosterone (T) of 7 nmol/L. Sixty minutes after the ACTH stimulation test, the F level was 30 nmol/L, the 11-DOC level was 141 nmol/L (normal, 2.2–6.8) and the 17-OHP level was 22 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound and a closed epiphyses on a bone age X-ray. Examination under anaesthesia combined with cystoscopy showed that her vaginal communication was just below the bladder neck and high in the urogenital sinus. Based on her biochemical and radiological evaluation, she was diagnosed as having 11-hydroxylase deficiency and was started on hydrocortisone 10 mg twice a day. She was evaluated by the pediatric psychiatrist who clearly confirmed her female gender identity and her strong wish to be converted to a female. Feminizing genitoplasty (clitoral reccesion) was performed at the age of 16 years and she was given a female name. She admitted her strong desire to get married and to be a mother. The younger patient was 16 years old. He was born at home and raised and named as a boy based on the appearance of the external genitalia. His parents reported that he behaved as a male and was proud of that. He was interested in playing with boys and in boy’s sports. He was dressed as a boy and had a short haircut. He was referred to our clinic at the age of 13 years. Physical examination showed a short stature, a masculine appearance, acne and Tanner stage IV pubic hair and stage II breast development. His height was in the fifth centile. His blood pressure was 130/80 mm Hg. Genital examination showed a phallus 7 centimeters in stretched length, a normal meatal opening at the tip of the glans penis with no hypospadias, and completely fused labioscrotal folds but the gonads were palpable. Laboratory evaluation revealed a normal female karyotype and normal electrolytes. An ACTH stimulation test showed a baseline F level of 42 nmol/L, an ACTH of 231 ng/mL, 11-DOC of 40 nmol/L, 17-OHP of 18 nmol/L and a T level of 7 nmol/L. Sixty minutes after ACTH stimulation, the F level was 45 nmol/L, 11-DOC was 114 nmol/L and 17-OHP was 20 nmol/L. Radiological evaluation showed a normal uterus and fallopian tubes on ultrasound, normal male urethra on the genitogram and a bone age of 16 years. He was diagnosed as having 11-hydroxylase deficiency and started on hydrocortisone 10 mg twice a day. His final height was 139 centimeters. He was interviewed by the pediatric psychiatrist who clearly confirmed his male gender identity and his strong wish to continue to be raised as a boy. We had several separate meetings with him and his parents and informed them that he would be an infertile man if he decided to continue to be raised as a man and there was a possibility that he would be a fertile women if he converted to his genetic sex. The patient, however, refused to change to his female genetic sex and admitted his strong wish to be a man forever. After more that one year of counseling and intensive psychiatric interview, he and his parents decided on a hysterectomy “to avoid menarche which might affect him psychologically” as his mother said. Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed. Both patients were satisfied by the way they were managed and raised and there were no postoperative psychological complications.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"was started on hydrocortisone 10 mg twice a day",
"started on hydrocortisone 10 mg twice a day ."
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37 ° C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height / age, -1.7 SD; BMI / age, -0.9 SD"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Gastrointestinal-System
|
GI
|
[
"Mild hepatosplenomegaly",
"mild hepatosplenomegaly"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Patient-History
|
History
|
[
"A 16 - year - old Iraqi boy, born of first - cousin parents, presented to our outpatient clinic at Al - Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities ( hallux valgus ). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient 's other siblings are all healthy"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Neurology
|
Neuro
|
[
"speaking difficulties",
"speaking difficulties",
"delayed walking until the age of 2 years",
"brain magnetic resonance imaging was normal"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Laboratory-and-Imaging
|
Lab_Image
|
[
"elevated erythrocyte sedimentation rate of 93 ( normal range, 0–15 mm / h ), elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL ). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti – double - stranded DNA, anti - cyclic citrullinated peptide, and lipid profile all were normal",
"Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal",
"Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes",
"Immunohistochemistry stain shows diffuse infiltration of histiocytes"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Cardiovascular-System
|
CVS
|
[
"nonpitting edema of the ankles"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Endocrinology
|
ENDO
|
[
"gynecomastia",
"pubic hair presents in normal distribution",
"elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL )"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Genitourinary-System
|
GU
|
[
"hypospadias",
"hypospadias",
"Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Respiratory-System
|
RESP
|
[] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Musculoskeletal-System
|
MSK
|
[
"finger and toe deformities ( hallux valgus )",
"Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers",
"Hallux valgus deformity, with flexion contractures of the toes and little fingers"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"hearing loss, speaking difficulties",
"corneal arcus",
"hearing loss and speaking difficulties",
"ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss",
"pure tone audiometry found bilateral profound mixed hearing loss"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Dermatology
|
DERM
|
[
"hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing",
"premature graying of the hair",
"Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well - demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees ( see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt - and - pepper gray hair",
"face looks flat; ears are of abnormal shape and size",
"Bilateral gynecomastia",
"Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees",
"salt - and - pepper gray hair",
"Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes",
"Immunohistochemistry stain shows diffuse infiltration of histiocytes"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Pregnancy
|
Pregnancy
|
[] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
Lymphatic-System
|
LYMPH
|
[
"Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Age-at-Presentation
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Age (at case presentation)
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[
"16 - year - old"
] |
6453830
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{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Age-of-Onset
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Age (of onset)
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[
"These features started at age 10 , except for the hypospadias , which was present since birth , and the hearing loss and speaking difficulties , which were diagnosed in early childhood"
] |
6453830
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
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Confirmed-Diagnosis-IEM
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Confirmed_Diagnosis(IEM)
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[] |
6453830
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{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing. He also had hearing loss, speaking difficulties, premature graying of the hair, gynecomastia, corneal arcus, hypospadias, and finger and toe deformities (hallux valgus). These features started at age 10, except for the hypospadias, which was present since birth, and the hearing loss and speaking difficulties, which were diagnosed in early childhood. The mother stated that the child delayed walking until the age of 2 years, and she reported that he had a severe ear infection by the age of 6. The patient has 3 brothers and 2 sisters; his older brother has bilateral swelling of the feet and deformities of the toes, but the patient's other siblings are all healthy. See Table I for clinical examination findings ( Fig 1, Fig 2, Fig 3 ). Table I Findings on examination Examination Findings Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37°C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height/age, -1.7 SD; BMI/age, -0.9 SD Skin Large hyperpigmented indurated patches overlying with hypertrichosis, symmetrically involving the medial aspects of the thighs and extending to the posterior aspects of the legs. The dorsa of the feet are also involved with well-demarcated, large, hyperpigmented patches. However, the pigmented patches spare the buttocks and knees (see Fig 1 ). There are both hypo- and hyperpigmented lesions on the face, neck, and upper chest. Hair Shows salt-and-pepper gray hair (see Fig 2 ) Head OFC, 51 cm (-2.8 SD, <1 st percentile); face looks flat; ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity is normal. Hearing assessment Severe hearing loss Breast Bilateral gynecomastia Heart Normal Abdomen Mild hepatosplenomegaly Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation Genitourinary Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal. Musculoskeletal Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers (see Fig 3 ). There is also a nonpitting edema of the ankles. BMI, Body mass index; MUAC, mid-upper arm circumference; OFC, occipitofrontal circumference. Fig 1 Large, hyperpigmented patches overlying symmetrically with hypertrichosis involving the inner aspect of the thighs, both calves, and the dorsa of the feet, while sparing the knees. Fig 2 Posterior view of the patient's head shows salt-and-pepper gray hair. Fig 3 Hallux valgus deformity, with flexion contractures of the toes and little fingers. Laboratory test results showed elevated erythrocyte sedimentation rate of 93 (normal range, 0–15 mm/h), elevated serum cortisol of 1030 nmol/L (normal range at morning, 171-536 nmol/L), and decreased serum testosterone level of 2.63 ng/mL (normal range, 2.8-8 ng/mL). Complete blood count showed mild microcytic anemia. Thyroid function tests, liver function tests, renal function tests, serum electrolytes, vitamin B12, serum ferritin, serum iron, antinuclear antibodies, anti–double-stranded DNA, anti-cyclic citrullinated peptide, and lipid profile all were normal. Echocardiography and electrocardiogram were normal, abdominal ultrasound scan found mild hepatosplenomegaly, brain magnetic resonance imaging was normal, and pure tone audiometry found bilateral profound mixed hearing loss. Histopathology findings showed widespread fibrosis and thickened collagen bundles in the papillary and mid dermis and striking infiltrates of CD68 + histiocytes (see Fig 4 ). The biopsy was taken from the hyperpigmented patch on the medial aspect of the right thigh. Fig 4 Immunohistochemistry stain shows diffuse infiltration of histiocytes. (CD68 + ; original magnification: ×400.)"}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"her blood pressure was 136/101 mm Hg, and her heart rate was 109 / min",
"moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Gastrointestinal-System
|
GI
|
[
"ileus",
"abdominal pain as well as constipation",
"recurrent abdominal pain",
"her abdominal pain regressed",
"Unexplained abdominal pain",
"abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week",
"acute pancreatitis",
"paroxysmal pain was not relieved",
"recurrent severe paroxysmal abdominal and lumbar pain",
"severe recurrent abdominal pain"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Patient-History
|
History
|
[
"An 18 - year - old girl was admitted to our hospital following development of generalized tonic - clonic seizure in November 2016.",
"In December 2014, a 27 - year - old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week."
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Neurology
|
Neuro
|
[
"generalized tonic - clonic seizure",
"brain MRI was performed in her local hospital indicating PRES",
"seizures",
"seizures",
"no focal neurological deficit",
"hallucination",
"The cerebral spinal fluid ( CSF ) analysis was normal",
"Brain MRI performed in our hospital 6 days later revealed partial resolution",
"No seizures occurred",
"repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions",
"seizures and PRES on brain magnetic resonance imaging ( MRI",
"seizures",
"generalized tonic - clonic seizure occurred. Then, partial seizures in the left limb continued",
"decreased tendon reflex in the 4 limbs",
"Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1 - weighted images and were hyperintense on T2 - weighted and fluid - attenuated inversion recovery images. Diffusion - weighted images ( DWI ) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient ( ADC ) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES ( Fig. 1 ). There was mild contrast enhancement",
"Electroencephalography showed diffuse slow waves without epileptiform discharges",
"The results of the cerebrospinal fluid analysis were normal"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"and a series of tests including abdominal X - ray, CT scan, and ultrasound were normal",
"Except for remarkable hyponatremia of 104 mmol / L, her serum potassium was 3.0 mmol / L, aspartate transaminase 243 U / L, alanine transaminase 142 U / L, and total bilirubin 37 μmol / L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero - negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid ( CSF ) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution",
"3 repeated urine Watson – Schwartz tests",
"PRES on brain magnetic resonance imaging ( MRI ).",
"diagnosis was made after repeated Watson – Schwartz tests.",
"No abnormalities were found in his abdominal computed tomography ( CT ) and X - ray.",
"His creatine kinase was 246 U / L ( normal, 0–170 U / L ), aspartate transaminase was 42 U / L ( 15–40 U / L ) and serum sodium was 130 mmol / L ( normal, 137–147 mmol / L ). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1 - weighted images and were hyperintense on T2 - weighted and fluid - attenuated inversion recovery images. Diffusion - weighted images ( DWI ) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient ( ADC ) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES ( Fig. 1 ). There was mild contrast enhancement",
"The results of the cerebrospinal fluid analysis were normal.",
"3 repeated positive urine Watson – Schwartz tests for porphobilinogen ( PBG ). His urine turned dark and red upon exposure to light"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Cardiovascular-System
|
CVS
|
[
"blood pressure increased",
"moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Endocrinology
|
ENDO
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Genitourinary-System
|
GU
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Respiratory-System
|
RESP
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Musculoskeletal-System
|
MSK
|
[
"lumbar pain",
"lumbar pain"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"no complaint of visual disturbance"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Dermatology
|
DERM
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Pregnancy
|
Pregnancy
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"18 - year - old",
"27 - year - old"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"AIP was confirmed",
"AIP",
"The diagnosis of AIP"
] |
6133578
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests including abdominal X-ray, CT scan, and ultrasound were normal. Her brain MRI was performed in her local hospital indicating PRES (Fig. 3 ). MR angiography showed no abnormality (data not shown). However, the diagnosis was vague and the patient was transferred to the emergency department of our hospital due to seizures. Anticonvulsants including benzodiazepines and oxcarbazepine were used to control the seizures. The recurrent abdominal pain and seizures gave us reason to suspect of AIP, given the prognosis from case 1. She had no family history of similar symptomatology or other particularly notable medical history. At the time of admission, her blood pressure was 136/101 mm Hg, and her heart rate was 109/min. The general physical examination was normal and there was no focal neurological deficit. On the night of admission, the patient had hallucination. Except for remarkable hyponatremia of 104 mmol/L, her serum potassium was 3.0 mmol/L, aspartate transaminase 243 U/L, alanine transaminase 142 U/L, and total bilirubin 37 μmol/L. Tests for antinuclear and anticardiolipin antibodies were normal. The patient was sero-negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. The cerebral spinal fluid (CSF) analysis was normal. Tests for heavy metal toxins including lead, mercury, and arsenic were also negative. Brain MRI performed in our hospital 6 days later revealed partial resolution (Fig. 4 ). AIP was confirmed by 3 repeated urine Watson–Schwartz tests. The patient was given a high carbohydrate diet and intravenous dextrose. No hematin was available for her, but her status improved gradually when she was discharged. No seizures occurred, and her abdominal pain regressed. Two weeks later, a repeat brain MRI performed in her local hospital confirmed the total disappearance of the lesions (Fig. 5 ). One month later, she recovered completely and went back to work. No acute attacks have occurred to date. Because this was cases report without any research involving human beings or experimental subjects, the ethical approval was not required in our institute. But patients have provided informed consent for publication of the case.', 'Case presentation:': "Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson–Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up.", 'Case 1': 'In December 2014, a 27-year-old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week. He was diagnosed with acute pancreatitis with mild elevated urine amylase in his local hospital. No abnormalities were found in his abdominal computed tomography (CT) and X-ray. However, the paroxysmal pain was not relieved, and his blood pressure increased. Six days later, a generalized tonic-clonic seizure occurred. Then, partial seizures in the left limb continued. He was transferred to our hospital. No particular medical or family history was reported. At the time of admission, he described recurrent severe paroxysmal abdominal and lumbar pain. His clinical examination was unremarkable, except for decreased tendon reflex in the 4 limbs. There was no complaint of visual disturbance. The patient had moderately increased blood pressure (159/101 mm Hg) and tachycardia (112/min). His creatine kinase was 246 U/L (normal, 0–170 U/L), aspartate transaminase was 42 U/L (15–40 U/L) and serum sodium was 130 mmol/L (normal, 137–147 mmol/L). Other biochemistry tests were not suggestive. Tests for connective tissue disorders, viral infection, heavy metal poisoning, thyroid function, and antithyroid antibodies were all negative. Brain MRI demonstrated multifocal lesions in the bilateral occipitoparietal and frontal lobes. The lesions were hypointense on T1-weighted images and were hyperintense on T2-weighted and fluid-attenuated inversion recovery images. Diffusion-weighted images (DWI) were hypointense, and some were patchy hyperintense, while apparent diffusion coefficient (ADC) maps were hyperintense, which was suggestive of vasogenic edema instead of cytotoxic edema in PRES (Fig. 1 ). There was mild contrast enhancement (data not shown). Electroencephalography showed diffuse slow waves without epileptiform discharges. The results of the cerebrospinal fluid analysis were normal. His severe recurrent abdominal pain without clear etiology was suspect of AIP. The diagnosis of AIP was made after 3 repeated positive urine Watson–Schwartz tests for porphobilinogen (PBG). His urine turned dark and red upon exposure to light (Fig. 2 ). Glucose infusion and a high carbohydrate diet were given to the patient, as hematin was not available in our hospital. The patient responded well and recovered gradually. He was discharged with no seizure or abdominal pain. Upon review, he remained asymptomatic.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The patient was given a high carbohydrate diet and intravenous dextrose . No hematin was available for her",
"Hematin",
"Glucose infusion and a high carbohydrate diet were given to the patient , as hematin was not available"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Gastrointestinal-System
|
GI
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Patient-History
|
History
|
[
"A 20 - year - old male presented with a gradually increasing swelling of the left testis for 1 year duration"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Neurology
|
Neuro
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml in volume ( 6.6 cm × 3.7 cm × 2.3 cm ), left testis measuring 52.1 ml in volume ( 6.2 cm × 4.5 cm × 3.6 cm ) ). In addition, there were bilateral grade - II varicocele. Seminal fluid analysis showed azoospermia",
"A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma ( Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent ( Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Cardiovascular-System
|
CVS
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Endocrinology
|
ENDO
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Genitourinary-System
|
GU
|
[
"gradually increasing swelling of the left testis",
"large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill - defined with an approximate diameter of 3.5 cm",
"Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml in volume ( 6.6 cm × 3.7 cm × 2.3 cm ), left testis measuring 52.1 ml in volume ( 6.2 cm × 4.5 cm × 3.6 cm ) ). In addition, there were bilateral grade - II varicocele. Seminal fluid analysis showed azoospermia",
"A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma ( Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent ( Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin",
"marked reduction in the sizes of testes with minimal induration"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Respiratory-System
|
RESP
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Musculoskeletal-System
|
MSK
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Dermatology
|
DERM
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Pregnancy
|
Pregnancy
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"20 - year - old"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 1 year"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"He was diagnosed to have CAH at the age of 1 year"
] |
6189373
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care due to his poor socioeconomic status and fear of receiving an unfavourable prognosis. Genital examination revealed a large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill-defined with an approximate diameter of 3.5 cm. Ultrasonography showed bilateral enlargement of the testes and epididymes (right testis measuring 41 ml in volume (6.6 cm × 3.7 cm × 2.3 cm), left testis measuring 52.1 ml in volume (6.2 cm × 4.5 cm × 3.6 cm)). In addition, there were bilateral grade-II varicocele. Seminal fluid analysis showed azoospermia. A biopsy of the right epididymis was performed. The sections revealed nodules of cells with intervening dense fibrous septae. The nodules comprised nests and cords of polygonal Leydig cells with abundant eosinophilic cytoplasm, uniform round nuclei and small nucleoli. Cell borders were distinct and a lymphoid infiltrate was present in the stroma (Fig. 1 ). Testicular tissue comprised of seminiferous tubules with thickened basement membranes. Residual testicular tissue showed predominantly germ cell aplasia with occasional tubules containing spermatogonia. Most seminiferous tubules contained only Sertoli cells. Spermatocytes, spermatids and spermatozoa were absent. Collections of Leydig cells were noted between the seminiferous tubules. Intratubular germ cell neoplasia or malignancy was absent (Fig. 2 ). Special stains with Mason trichrome did not show Reinke crystals. The cells displayed diffuse cytoplasmic positivity for synaptophysin (Fig. 3 ). Thus, the histopathological analysis was more in favour of TART rather than Leydig cell neoplasm. A course of prednisolone was started and there was good response. In 6 weeks, there was marked reduction in the sizes of testes with minimal induration. He was followed up for 6 months but was eventually lost to follow up.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"A course of prednisolone was started and there was good response ."
] |
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