pmcid
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5021915
|
{'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days. Her vital signs on admission showed uncontrolled hypertension (BP = 148/118 mm Hg) and tachycardia (HR = 120 bpm). She was unable to eat during the last few days. On the second day of her admission, she had two generalized tonic–clonic seizures. She received lorazepam and levetiracetam, and her clinical seizures resolved; however, she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region. The patient was transferred to the ICU for blood pressure control and was started on treatment with acyclovir, antihypertensive medications, and antibiotics. She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a left Babinski sign. Head CT was normal, cerebral spinal fluid (CSF) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus . The brain MRI showed PRES ( Fig. 1 ). Because the stat EEG showed LPDs + F, a highly epileptogenic pattern, cEEG was initiated to rule out the possibility of recurrent electrographic seizures or nonconvulsive status epilepticus ( Fig. 2 ). There was one electrographic seizure arising from the right temporoparietal region lasting less than 1 min seen during the first 12 h of recording but none afterwards during the next two days of recording. Therefore, clinical and electrographic seizures completely subsided with treatment. Acyclovir was discontinued, and high dose steroids were started, considering the possibility of immunological and inflammatory etiologies. The patient showed clinical improvement, but her abdominal pain persisted, and the diagnosis of an acute porphyria was suspected. Urine, then serum and fecal porphyrins were requested. The results were as follows: urine PBG level was 177.4 μmol/L (reference: 0 to 0.88 μmol/L), serum porphyrin level was 58 nmol/L (reference: 0 to 15 nmol/L), fecal coproporphyrin was 18 nmol/g (reference: 0 to 45 nmol/g), and fecal protoporphyrin was 10 nmol/g (reference: 0–100 nmol/g). Taken together, the highly increased urine PBG levels, slightly increased plasma porphyrin levels, and normal fecal porphyrin levels, were suggestive of AIP. The patient's abdominal pain resolved in less than 24 h with carbohydrate (glucose) loading and highly caloric diet. Therefore, intravenous hemin was not necessary at that time. She was discharged home in stable conditions and offered to follow up at a porphyria center of her choice for further confirmatory genetic testing, management, and counseling. The patient was seen in our epilepsy outpatient clinic one month later. She was not taking any medications. She was asymptomatic, and her neurological exam was normal. A follow-up brain MRI showed remarkable improvement."}
|
{'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days. Her vital signs on admission showed uncontrolled hypertension (BP = 148/118 mm Hg) and tachycardia (HR = 120 bpm). She was unable to eat during the last few days. On the second day of her admission, she had two generalized tonic–clonic seizures. She received lorazepam and levetiracetam, and her clinical seizures resolved; however, she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region. The patient was transferred to the ICU for blood pressure control and was started on treatment with acyclovir, antihypertensive medications, and antibiotics. She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a left Babinski sign. Head CT was normal, cerebral spinal fluid (CSF) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus . The brain MRI showed PRES ( Fig. 1 ). Because the stat EEG showed LPDs + F, a highly epileptogenic pattern, cEEG was initiated to rule out the possibility of recurrent electrographic seizures or nonconvulsive status epilepticus ( Fig. 2 ). There was one electrographic seizure arising from the right temporoparietal region lasting less than 1 min seen during the first 12 h of recording but none afterwards during the next two days of recording. Therefore, clinical and electrographic seizures completely subsided with treatment. Acyclovir was discontinued, and high dose steroids were started, considering the possibility of immunological and inflammatory etiologies. The patient showed clinical improvement, but her abdominal pain persisted, and the diagnosis of an acute porphyria was suspected. Urine, then serum and fecal porphyrins were requested. The results were as follows: urine PBG level was 177.4 μmol/L (reference: 0 to 0.88 μmol/L), serum porphyrin level was 58 nmol/L (reference: 0 to 15 nmol/L), fecal coproporphyrin was 18 nmol/g (reference: 0 to 45 nmol/g), and fecal protoporphyrin was 10 nmol/g (reference: 0–100 nmol/g). Taken together, the highly increased urine PBG levels, slightly increased plasma porphyrin levels, and normal fecal porphyrin levels, were suggestive of AIP. The patient's abdominal pain resolved in less than 24 h with carbohydrate (glucose) loading and highly caloric diet. Therefore, intravenous hemin was not necessary at that time. She was discharged home in stable conditions and offered to follow up at a porphyria center of her choice for further confirmatory genetic testing, management, and counseling. The patient was seen in our epilepsy outpatient clinic one month later. She was not taking any medications. She was asymptomatic, and her neurological exam was normal. A follow-up brain MRI showed remarkable improvement."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"AIP"
] |
5021915
|
{'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days. Her vital signs on admission showed uncontrolled hypertension (BP = 148/118 mm Hg) and tachycardia (HR = 120 bpm). She was unable to eat during the last few days. On the second day of her admission, she had two generalized tonic–clonic seizures. She received lorazepam and levetiracetam, and her clinical seizures resolved; however, she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region. The patient was transferred to the ICU for blood pressure control and was started on treatment with acyclovir, antihypertensive medications, and antibiotics. She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a left Babinski sign. Head CT was normal, cerebral spinal fluid (CSF) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus . The brain MRI showed PRES ( Fig. 1 ). Because the stat EEG showed LPDs + F, a highly epileptogenic pattern, cEEG was initiated to rule out the possibility of recurrent electrographic seizures or nonconvulsive status epilepticus ( Fig. 2 ). There was one electrographic seizure arising from the right temporoparietal region lasting less than 1 min seen during the first 12 h of recording but none afterwards during the next two days of recording. Therefore, clinical and electrographic seizures completely subsided with treatment. Acyclovir was discontinued, and high dose steroids were started, considering the possibility of immunological and inflammatory etiologies. The patient showed clinical improvement, but her abdominal pain persisted, and the diagnosis of an acute porphyria was suspected. Urine, then serum and fecal porphyrins were requested. The results were as follows: urine PBG level was 177.4 μmol/L (reference: 0 to 0.88 μmol/L), serum porphyrin level was 58 nmol/L (reference: 0 to 15 nmol/L), fecal coproporphyrin was 18 nmol/g (reference: 0 to 45 nmol/g), and fecal protoporphyrin was 10 nmol/g (reference: 0–100 nmol/g). Taken together, the highly increased urine PBG levels, slightly increased plasma porphyrin levels, and normal fecal porphyrin levels, were suggestive of AIP. The patient's abdominal pain resolved in less than 24 h with carbohydrate (glucose) loading and highly caloric diet. Therefore, intravenous hemin was not necessary at that time. She was discharged home in stable conditions and offered to follow up at a porphyria center of her choice for further confirmatory genetic testing, management, and counseling. The patient was seen in our epilepsy outpatient clinic one month later. She was not taking any medications. She was asymptomatic, and her neurological exam was normal. A follow-up brain MRI showed remarkable improvement."}
|
{'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days. Her vital signs on admission showed uncontrolled hypertension (BP = 148/118 mm Hg) and tachycardia (HR = 120 bpm). She was unable to eat during the last few days. On the second day of her admission, she had two generalized tonic–clonic seizures. She received lorazepam and levetiracetam, and her clinical seizures resolved; however, she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region. The patient was transferred to the ICU for blood pressure control and was started on treatment with acyclovir, antihypertensive medications, and antibiotics. She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a left Babinski sign. Head CT was normal, cerebral spinal fluid (CSF) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus . The brain MRI showed PRES ( Fig. 1 ). Because the stat EEG showed LPDs + F, a highly epileptogenic pattern, cEEG was initiated to rule out the possibility of recurrent electrographic seizures or nonconvulsive status epilepticus ( Fig. 2 ). There was one electrographic seizure arising from the right temporoparietal region lasting less than 1 min seen during the first 12 h of recording but none afterwards during the next two days of recording. Therefore, clinical and electrographic seizures completely subsided with treatment. Acyclovir was discontinued, and high dose steroids were started, considering the possibility of immunological and inflammatory etiologies. The patient showed clinical improvement, but her abdominal pain persisted, and the diagnosis of an acute porphyria was suspected. Urine, then serum and fecal porphyrins were requested. The results were as follows: urine PBG level was 177.4 μmol/L (reference: 0 to 0.88 μmol/L), serum porphyrin level was 58 nmol/L (reference: 0 to 15 nmol/L), fecal coproporphyrin was 18 nmol/g (reference: 0 to 45 nmol/g), and fecal protoporphyrin was 10 nmol/g (reference: 0–100 nmol/g). Taken together, the highly increased urine PBG levels, slightly increased plasma porphyrin levels, and normal fecal porphyrin levels, were suggestive of AIP. The patient's abdominal pain resolved in less than 24 h with carbohydrate (glucose) loading and highly caloric diet. Therefore, intravenous hemin was not necessary at that time. She was discharged home in stable conditions and offered to follow up at a porphyria center of her choice for further confirmatory genetic testing, management, and counseling. The patient was seen in our epilepsy outpatient clinic one month later. She was not taking any medications. She was asymptomatic, and her neurological exam was normal. A follow-up brain MRI showed remarkable improvement."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"AIP",
"The patient 's abdominal pain resolved in less than 24 h with carbohydrate ( glucose ) loading and highly caloric diet . Therefore , intravenous hemin was not necessary at that time ."
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"short stature for his age ( 131 vs. 154 cm )",
"haemoglobin to be 6.7 g / dl."
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Gastrointestinal-System
|
GI
|
[
"mild hepatomegaly"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Patient-History
|
History
|
[
"A 13 - year - old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Neurology
|
Neuro
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Routine laboratory investigations revealed haemoglobin to be 6.7 g / dl. Liver function tests, thyroid profile, serum cortisol ( 15.25 μg / dL ), and blood sugar were normal. Chest X - ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng / ml ( normal range 1–14.4 ng / ml ). Serum Vitamin D3 level ( 51.88 vs. 81–250 nmol / L ) was found to be low. No “ M ” spike was seen in serum protein electrophoresis. Ultrasonography ( USG ) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid - dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34 + in vessel endothelium"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Cardiovascular-System
|
CVS
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Endocrinology
|
ENDO
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Genitourinary-System
|
GU
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Respiratory-System
|
RESP
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature",
"Hallux valgus was also present"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"hearing loss for more than 5 years which was progressive"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Dermatology
|
DERM
|
[
"hyperpigmentation and hypertrichosis of lower extremities and trunk",
"well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally",
"pallor",
"Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid - dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34 + in vessel endothelium"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Pregnancy
|
Pregnancy
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"13 - year - old"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings"
] |
5838761
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There was no family history of similar skin changes. On mucocutaneous examination well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bilaterally. General physical examinations showed mild hepatomegaly and pallor. He had short stature for his age (131 vs. 154 cm). Hallux valgus was also present. Routine laboratory investigations revealed haemoglobin to be 6.7 g/dl. Liver function tests, thyroid profile, serum cortisol (15.25 μg/dL), and blood sugar were normal. Chest X-ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng/ml (normal range 1–14.4 ng/ml). Serum Vitamin D3 level (51.88 vs. 81–250 nmol/L) was found to be low. No “M” spike was seen in serum protein electrophoresis. Ultrasonography (USG) abdomen revealed mild hepatomegaly. USG of scrotum was normal. Contrast enhanced computed tomography head, and orbit revealed bilateral mild axial proptosis. Skin biopsy was taken from the hyperpigmented plaque on the thigh and revealed mild irregular acanthosis, and increased melanin deposition in basal keratinocytes. Significant thickening of collagen bundles in upper and mid-dermis was seen along with perivascular infiltrate of histiocytes. Immunohistochemistry was positive for CD68 and CD45 in dermal perivascular histiocytic infiltrate and for CD34+ in vessel endothelium. The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient had given his consent for his images and other clinical information to be reported in the journal. The patient understood that his name and initial would not be published and due efforts would be given to conceal his identity, but anonymity could not be guaranteed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"His respiratory rate was 50 breaths/ min and was saturating at 99 % in air. His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Gastrointestinal-System
|
GI
|
[
"poor feeding",
"Examinations of the respiratory system and abdomen were within normal limits"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Patient-History
|
History
|
[
"A 10 - day - old male infant presented to the emergency department with a 3 - day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg ( 2nd–9th centile ); length 49.0 cm ( 25th centile ) and head circumference 36.0 cm ( 9th–25th centile ). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents ( first cousins ) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Neurology
|
Neuro
|
[
"poor feeding and lethargy",
"No fever or irritability",
"crying, alert"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"His initial blood gas showed the following : pH 7.30 ( 7.35–7.45 ), HCO 3 16.1 mmol / L ( 22–28 mmol / L ), BE −9.0 mmol / L ( −4.0 to +4.0 mmol / L ), Na 112 mmol / L ( 135–145 mmol / L ), K 9.7 mmol / L ( 3.5–5.0 mmol / L ), ionised Ca 1.16 mmol / L ( 1.0–1.3 mmol / L ), glucose 3.9 mmol / L ( 3.0–6.5 mmol / L ) and lactate of 3.3 mmol / L ( < 2 mmol / L )",
"An echocardiogram was done, and it was normal",
"mutation in CYP21A2 was confirmed by genetic studies"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Cardiovascular-System
|
CVS
|
[
"bradycardic",
"sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle",
"His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air",
"he had a 2/6 systolic murmur best heard in the pulmonary area",
"His ECG showed broad complex bradycardia",
"repeat ECG showed regular sinus rhythm",
"An echocardiogram was done, and it was normal"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Endocrinology
|
ENDO
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Genitourinary-System
|
GU
|
[
"hyponatraemia and hyperkalaemia",
"genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant ’s skin tone"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Respiratory-System
|
RESP
|
[
"His chest was clear",
"Examinations of the respiratory system and abdomen were within normal limits"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Musculoskeletal-System
|
MSK
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Dermatology
|
DERM
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Pregnancy
|
Pregnancy
|
[
"He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg ( 2nd–9th centile ); length 49.0 cm ( 25th centile ) and head circumference 36.0 cm ( 9th–25th centile ). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"10 - day - old"
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"A diagnosis of CAH secondary to 21 - hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies ."
] |
6352754
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg (2nd–9th centile); length 49.0 cm (25th centile) and head circumference 36.0 cm (9th–25th centile). His antenatal scans were normal; maternal serology protective and he had no risk factors for sepsis. He was the first child of consanguineous parents (first cousins) of Bangladeshi descent. He had an older brother who was apparently healthy. There were no chronic diseases that run in the family. On initial examination, he was crying, alert, but bradycardic (heart rate of 65 beats/min), with sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle. His respiratory rate was 50 breaths/ min and was saturating at 99% in air. His preductal oxygen saturation was 98% in air and postductal oxygen saturation was 97% in air. His chest was clear and he had a 2/6 systolic murmur best heard in the pulmonary area. Examinations of the respiratory system and abdomen were within normal limits. His ECG showed broad complex bradycardia. His blood pressure was recorded as 92/56 mm Hg (above 50th centile). His initial blood gas showed the following: pH 7.30 (7.35–7.45), HCO 3 16.1 mmol/L (22–28 mmol/L), BE −9.0 mmol/L (−4.0 to +4.0 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ionised Ca 1.16 mmol/L (1.0–1.3 mmol/L), glucose 3.9 mmol/L (3.0–6.5 mmol/L) and lactate of 3.3 mmol/L (<2 mmol/L). Treatment with intravenous cefotaxime (25 mg/kg) and intravenous amoxicillin (30 mg/kg) was commenced for suspected sepsis. However, the hyponatraemia and hyperkalaemia were out of proportion to his clinical condition. Following the results of the blood gas, his genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant’s skin tone. A probable diagnosis of CAH with salt-wasting crisis with arrhythmia was made and treatment was commenced. He was given high flow oxygen via non-rebreathing mask; 20 mL/kg of 0.9% saline bolus; continuous nebulised salbutamol (2.5 mg); stat dose of calcium gluconate intravenously (0.11 mmol/kg); hydrocortisone intravenously (4 mg/kg) and fludrocortisone acetate (50 mcg). Sodium bicarbonate infusion (1 mmol/kg) was also commenced. Following the administration of the above interventions, his heart rate rose to 150 beats/min. His repeat ECG showed regular sinus rhythm within a period of 40 min of arrival to the emergency department. An echocardiogram was done, and it was normal. A diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. His glucose and electrolytes have been monitored daily while in the hospital, and they gradually improved to satisfactory levels. He was discharged home with oral hydrocortisone (2 mg/kg 6 hourly), fludrocortisone acetate (50 mcg once daily) and 0.9% sodium chloride (1 mmol/kg twice daily). An instruction to his parents was given to double the dose of his oral hydrocortisone if the baby has intercurrent illness (eg, fever, cough, vomiting and diarrhoea). They were also given an emergency card/passport so that he can be assessed and managed immediately by the paediatric team whenever he presents to the hospital.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"hydrocortisone intravenously ( 4 mg / kg ) and fludrocortisone acetate ( 50 mcg ) .",
". He was discharged home with oral hydrocortisone ( 2 mg / kg 6 hourly ) , fludrocortisone acetate ( 50 mcg once daily ) and 0.9 % sodium chloride ( 1 mmol / kg twice daily ) ."
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"bilateral thrombosis of the stented SFAs",
"acute superficial femoral artery ( SFA ) thrombosis"
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Gastrointestinal-System
|
GI
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Patient-History
|
History
|
[
"Patient 1 ( a woman, 68 years old ) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left",
"Patient 2 ( a woman, 65 years old ) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg ( < 150 m ) with an ABI of 0.51 and 0.68 on the right.",
"Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting ( S.M.A.R.T. stent; Cordis, Bridgewater, NJ ) for stenosis of the right SFA",
"One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral - popliteal saphenous bypass",
"angioplasty of the SFA was performed",
"again treated by angioplasty",
"Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs"
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Neurology
|
Neuro
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )",
"duplex scanning disclosed bilateral thrombosis of the stented SFAs",
"Intraoperative angiography demonstrating stenosis of the left superficial femoral artery ( SFA )",
"Duplex scans disclosed significant stenosis ( > 70 % ) of the left SFA",
"duplex scanning confirmed reocclusion ( ABI, 0.46 ) of the stented SFA",
"occlusion of the stented artery was evidenced by duplex scan",
"Angiography showing acute superficial femoral artery ( SFA ) thrombosis",
"a duplex scan disclosed a subtotal stenosis in the right SFA",
"duplex scans revealed restenosis on both sides",
"and computed tomography angiography revealed significant restenosis of the left SFA"
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Cardiovascular-System
|
CVS
|
[
"long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left.",
"Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )",
"intermittent claudication recurred",
"stenosis of the left superficial femoral artery ( SFA )",
"severe claudication of the left leg ( < 150 m ) with an ABI of 0.51 and 0.68 on the right",
"Duplex scans disclosed significant stenosis ( > 70 % ) of the left SFA",
"A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan.",
"for stenosis of the right SFA",
"duplex scan disclosed a subtotal stenosis in the right SFA",
"claudication worsened on the left leg",
"in - stent stenosis of the left SFA",
"still suffering from claudication",
"severe claudication,",
"severe stenosis of both SFAs",
"maximum walking distance had decreased; duplex scans revealed restenosis on both sides",
"Restenosis of the right SFA",
"Three years later, his maximum walking distance had declined further ( < 150 m ), and computed tomography angiography revealed significant restenosis of the left SFA"
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Endocrinology
|
ENDO
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
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{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Genitourinary-System
|
GU
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[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Respiratory-System
|
RESP
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[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Musculoskeletal-System
|
MSK
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Dermatology
|
DERM
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Pregnancy
|
Pregnancy
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"65 years old"
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"diagnosed with PXE at 18 years of age .",
"diagnosed with PXE at 20 years of age",
"was diagnosed with PXE at 8 years of age .",
"diagnosed with PXE at 41 years of age ."
] |
6849992
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of the superficial femoral arteries (SFAs). Primary angioplasty with stenting of the right SFA was performed ( Fig 1 ), followed 2 days later by angioplasty using a nitinol stent (LifeStent; Bard, Tempe, Ariz) on the left side. The patient was discharged with combined oral antiplatelet medication (aspirin and clopidogrel). Four weeks later, intermittent claudication recurred, and duplex scanning disclosed bilateral thrombosis of the stented SFAs. The patient is currently stable and does not wish to have further treatment. Fig 1 Intraoperative angiography demonstrating stenosis of the left superficial femoral artery (SFA) and the result after angioplasty and stenting. Patient 2 (a woman, 65 years old) was diagnosed with PXE at 20 years of age. She was referred for severe claudication of the left leg (<150 m) with an ABI of 0.51 and 0.68 on the right. Duplex scans disclosed significant stenosis (>70%) of the left SFA, and angioplasty of the left SFA with a nitinol stent (LifeStent; Bard) was performed after failure of medical treatment. One day later, duplex scanning confirmed reocclusion (ABI, 0.46) of the stented SFA. After patency was recovered by fibrinolysis ( Fig 2 ), a second stent was deployed, and the patient was discharged initially with low-molecular-weight heparin and clopidogrel. She was later switched to ticagrelor alone. A month later, the intermittent claudication recurred, and occlusion of the stented artery was evidenced by duplex scan. A femoral-popliteal saphenous bypass was finally performed, and the patient has remained asymptomatic. Fig 2 Angiography showing acute superficial femoral artery (SFA) thrombosis and result after intra-arterial in situ thrombolysis. Patient 3 was diagnosed with PXE at 8 years of age. At 38 years, the patient underwent her first angioplasty with stenting (S.M.A.R.T. stent; Cordis, Bridgewater, NJ) for stenosis of the right SFA. The patient was discharged with phenprocoumon (3 mg). One year later, a duplex scan disclosed a subtotal stenosis in the right SFA, which was treated by femoral-popliteal saphenous bypass. Nine years later, her claudication worsened on the left leg, and angioplasty of the SFA was performed. Twelve months later, in-stent stenosis of the left SFA was found, again treated by angioplasty. After 6 months, she was still suffering from claudication and was referred finally for a femoral-popliteal saphenous bypass. Patient 4 was diagnosed with PXE at 41 years of age. At 44 years, he complained of severe claudication, and duplex scans showed severe stenosis of both SFAs. Bilateral angioplasty with stenting (S.M.A.R.T. stent; Cordis) was performed, and he was discharged with aspirin (80 mg/d). Three years later, his maximum walking distance had decreased; duplex scans revealed restenosis on both sides, and bilateral angioplasty was repeated. Restenosis of the right SFA was found shortly after, and a third angioplasty was performed. Three years later, his maximum walking distance had declined further (<150 m), and computed tomography angiography revealed significant restenosis of the left SFA. Since the patient had developed a dense network of collaterals in both legs, a watch and wait policy was decided.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
", 68 years old"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32 - year - old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back."
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[
"mentally retarded",
"gait instability",
"ataxia",
"hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei."
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[
"Lipid profile revealed total cholesterol of 306 mg / dl ( LDL 205 mg / dl, VLDL 46mg / dl, HDL 55 mg / dl ) and triglycerides of 526 mg / dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised ( 14 1 micromole / liter )."
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[
"fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[
"cataracts in both eyes"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[
"right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints",
"soft, non - tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence",
"tissue swellings along the posterior aspect of both ankle joints and calcaneal bones",
"Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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)
|
[
"32 - year - old"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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)
|
[] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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)
|
[
"With a combined spectrum of clinical , biochemical and radiological findings , a diagnosis of cerebrotendinous xanthomatosis(CTX ) was made . '"
] |
6857253
|
{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, non-tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence. A preliminary diagnosis of cerebrotendinous xanthomatosis was made and evaluation was started. Lipid profile revealed total cholesterol of 306 mg/dl (LDL 205 mg/dl, VLDL 46mg/dl, HDL 55 mg/dl) and triglycerides of 526 mg/dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of ankle joints revealed fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images consistent with tendinous xanthomatosis. MRI brain revealed hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped hypointense signal of bilateral dentate nuclei. Hyopintense T1W and T2W round lesion was found in subcutaneous tissues of right malar eminence which was subjected to FNAC which revealed a xanthoma. Serum cholestanol levels were raised (14 1 micromole/liter). With a combined spectrum of clinical, biochemical and radiological findings, a diagnosis of cerebrotendinous xanthomatosis(CTX) was made.', '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
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Gastrointestinal-System
|
GI
|
[
"inflammatory bowel syndrome"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Patient-History
|
History
|
[
"A 62 - year - old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5 - year history of an asymptomatic eruption on the neck",
"no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption",
"A 68 - year - old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years",
"The patient had no systemic symptoms and was otherwise healthy",
"A 61 - year - old female patient presented to the clinic with a 2 - year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis",
"There was no history of sun exposure or family history of similar cutaneous manifestation",
"A 77 - year - old female presented with a 4 - year history of gradual appearance of small skin - colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient 's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension",
"A 71 - year - old female presented with a 1–2 - year history of asymptomatic skin - colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Neurology
|
Neuro
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Echocardiography was unremarkable",
"A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered",
"H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Cardiovascular-System
|
CVS
|
[
"Echocardiography was unremarkable",
"hypertension",
"hypertension"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Endocrinology
|
ENDO
|
[
"diabetes mellitus Type 2,"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Genitourinary-System
|
GU
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Respiratory-System
|
RESP
|
[
"chronic obstructive pulmonary disease",
"asthma"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Musculoskeletal-System
|
MSK
|
[
"osteoarthritis",
"rheumatoid arthritis"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"The ophthalmologic examination was normal",
"The eye examination was normal"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Dermatology
|
DERM
|
[
"asymptomatic eruption on the neck.",
"numerous soft, oval - to - round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area",
"A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.",
"H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident",
"asymptomatic cutaneous lesions",
"numerous tan to yellowish soft papules over the lateral side of the patient 's neck, measuring 2–3 mm",
"slowly progressive itchy skin lesions after spraying perfumes.",
"multiple symmetrically distributed, skin - colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient 's neck, upper chest, and the antecubital fossa of both forearms",
"gradual appearance of small skin - colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient 's neck and the upper chest bilaterally.",
"psoriasis",
"asymptomatic skin - colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved."
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Pregnancy
|
Pregnancy
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"62 - year - old",
"68 - year - old",
"61 - year - old",
"77 - year - old",
"71 - year - old"
] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
6862365
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.', 'Histopathology of cases (1–3)': 'A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered.', 'Histopathology of case 4 and 5': 'H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident.', 'Case 3': "A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm. The patient had no systemic symptoms and was otherwise healthy.", 'Case 4': "A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.", 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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 2': "A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.", 'Case 1': 'A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
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.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"microcytic anemia with hemoglobin levels of 10.1 g / dl, and a platelet count of 5.14 lakhs / cu.mm"
] |
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.'}
|
Gastrointestinal-System
|
GI
|
[
"hepatomegaly",
"hepatomegaly"
] |
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.'}
|
Patient-History
|
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"
] |
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.'}
|
Neurology
|
Neuro
|
[
"her other developmental milestones were normal",
"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.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"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"
] |
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.'}
|
Cardiovascular-System
|
CVS
|
[
"swelling of legs"
] |
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.'}
|
Endocrinology
|
ENDO
|
[
"Thyroid profile, fasting, and post - prandial blood sugar levels were 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.'}
|
Genitourinary-System
|
GU
|
[
"menarche at 11 years of age and has had regular menstrual cycles",
"normal genitalia"
] |
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