pmcid
stringclasses 138
values | text
stringclasses 138
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stringclasses 18
values | role-name
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values | raw-initial-ground-truth
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|---|---|---|---|---|---|
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Respiratory-System
|
RESP
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust",
"teeth have progressively stained brownish - red"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Dermatology
|
DERM
|
[
"easy skin blistering and scarring",
"multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back",
"severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands.",
"scarring of her skin at sun - exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp",
"restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust",
"Moderate hypertrichosis on the back of the neck was also noted"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Pregnancy
|
Pregnancy
|
[
"born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"14 years"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"3 - week - old"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"These results confirmed a diagnosis of CEP"
] |
3214312
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed. At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the intensity of the red coloration of the urine varied from day to day. Physical examination revealed multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back. The spleen was of normal size and physical and intellectual development was normal. Again, moderate hemolytic anemia was also found (red blood cells: 3.68 × 10 6, hemoglobin: 10.6 g/dl, hematocrit: 33.0%, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G/DL, platelets 124 × 10 3 ml, white blood cells: 3.6 × 10 3, reticulocytes: 58 (5-15)), but did not require a blood transfusion. Further laboratory investigations were as follows: urea, creatinine, uric acid, electrolytes, and alkaline phosphatase were normal. Ultrasound examination of the kidneys and heart were normal and bone densitometry was unremarkable. Now, aged 14 years, the severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands. Using all available measures to protect herself from the sun (hat, eyeglasses, cosmetic camouflage, and long sleeves) has not succeeded in protecting her from the mutilating effects of sun. This has caused scarring of her skin at sun-exposed sites, including the backs of the hands, her face, and ears, and has resulted in bald patches on the scalp. In addition, she has restricted hand function due to scarring of the skin and has lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust. Moderate hypertrichosis on the back of the neck was also noted and her teeth have progressively stained brownish-red. The results of the biochemical investigations are summarized in Table 1 . Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. High-pressure liquid chromatography of the urine demonstrated 85% of the uroporphyrin to be of isomer I type and fecal fractionation showed mainly coproporphyrin isomer I. Urinary aminolevulinic acid and porphobilinogen levels were within normal limits. The erythrocyte protoporphyrin level was greatly increased in both zinc and free forms. Plasma fluorescence spectroscopy revealed a prominent emission peak at 617. These results confirmed a diagnosis of CEP. Molecular genetic analysis of the UROS gene revealed the sequence variant c.217T>C (p.Cys73Arg) in exon 4 and c.683c>T (p.Thr228Met) in exon 10. These missense mutations have previously been described, where the patient had a moderate to severe phenotype.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"6 months ,"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84 / min, respiratory rate of 24 / min, and body temperature of 36 ℃."
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Gastrointestinal-System
|
GI
|
[
"become nauseated, and vomited",
"nauseated, and developed severe vomiting.",
"recurrent abdominal pain",
"no evidence of gastrointestinal bleeding",
"no evidence of chronic liver disease"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Patient-History
|
History
|
[
"A 59 - yr - old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood."
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Neurology
|
Neuro
|
[
"progressive lethargy and confusion since the early morning.",
"fatigue over the previous 3 months.",
"failed to arise at his normal time and exhibited inappropriate behavior and drowsiness.",
"periodic episodes of convulsions",
"not experienced any seizures in adulthood",
"was in a semi - coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person",
"computed tomography ( CT ) and diffusion - weighted magnetic resonance imaging revealed no brain lesions",
"The cerebrospinal fluid was normal upon examination",
"remained confused",
"generalized tonic - clonic seizure",
"seizure subsided, but the patient continued to move convulsively",
"nonconvulsive status epilepticus",
"patient was still semi - comatose,",
"electroencephalogram did not show any signs of epileptic discharge",
"mental status returned to normal"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Laboratory investigations showed that he had hyperammonemia ( 143.8 mM ), elevated liver enzymes ( alanine aminotransferase, 179 U / L; aspartate aminotransferase, 91 U / L ), a total bilirubin level of 1.91 mg / dL, and a blood glucose level of 106 mg / dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg / dL and 1.01 mg / dL, respectively. Blood analysis revealed mild leukocytosis ( 10.41 × 10 3 leukocytes/µL ) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia ( 149 mEq sodium / L ), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal.",
"Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography ( CT ) and diffusion - weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination.",
"serum ammonia level increased to 370 mM",
"serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed",
"serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon",
"serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine ( 196 µM; normal 19 - 81 µM ), decreased citrulline ( 3 µM; normal 19 - 62 µM ), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid ( 603.5 mg / mg creatinine ) and a mild urinary uracil peak"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Cardiovascular-System
|
CVS
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Endocrinology
|
ENDO
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Genitourinary-System
|
GU
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Respiratory-System
|
RESP
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Musculoskeletal-System
|
MSK
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Dermatology
|
DERM
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Pregnancy
|
Pregnancy
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Lymphatic-System
|
LYMPH
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"59 - yr - old"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"late - onset ornithine carbamoyltransferase deficiency"
] |
3342550
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. The next day, he had eaten chicken and freshwater snails, had again become nauseated, and developed severe vomiting. On the day of admission, he failed to arise at his normal time and exhibited inappropriate behavior and drowsiness. During his childhood, the patient had suffered recurrent abdominal pain and periodic episodes of convulsions, but he had not experienced any seizures in adulthood. On examination, the patient was in a semi-coma; his Glasgow Coma Scale score was 10/15, and he was disoriented in time, place, and person. His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84/min, respiratory rate of 24/min, and body temperature of 36℃. Laboratory investigations showed that he had hyperammonemia (143.8 mM), elevated liver enzymes (alanine aminotransferase, 179 U/L; aspartate aminotransferase, 91 U/L), a total bilirubin level of 1.91 mg/dL, and a blood glucose level of 106 mg/dL. His blood urea nitrogen and serum creatinine levels were 17.7 mg/dL and 1.01 mg/dL, respectively. Blood analysis revealed mild leukocytosis (10.41 × 10 3 leukocytes/µL) and a normal hemoglobin level, platelet count, and clotting profile. Serum electrolyte analysis showed mild hypernatremia (149 mEq sodium/L), but serum potassium and chloride levels were within normal range. Results of a toxicology screen were normal. Further investigations revealed no evidence of gastrointestinal bleeding, and computed tomography (CT) and diffusion-weighted magnetic resonance imaging revealed no brain lesions. Abdominal CT imaging did not show any abnormality. The cerebrospinal fluid was normal upon examination. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Despite the administration of a lactulose enema, the patient's serum ammonia level increased to 370 mM and he remained confused, leading us to initiate acute hemodialysis. During the procedure, the patient had a generalized tonic-clonic seizure, for which 1 mg of lorazepam was administered intravenously. The seizure subsided, but the patient continued to move convulsively, leading to several additional injections of intravenous lorazepam. A diagnosis of nonconvulsive status epilepticus was made, and the antiepileptic drug levetiracetam was administered. After the initial session of hemodialysis, the patient's serum ammonia level had decreased to 170 mM, but it soon rose to 228 mM. Plasma and urine amino acid analysis and urine organic acid quantitation were performed. Under suspicion of a urea cycle disorder, arginine (3 g) and sodium benzoate (3 g) were administered via nasogastric tube every 4-6 hr. Dextrose solution (10%) was supplied intravenously, and a protein-free formula was supplied via a feeding tube. By the morning of the next day, the patient's serum ammonia level had decreased to 36 mM. However, because it rose to 107 mM by the afternoon, and the patient was still semi-comatose, hemodialysis was performed one more time. At that time, an electroencephalogram did not show any signs of epileptic discharge. After the second hemodialysis session, the patient's serum ammonia level stabilized at less than 30 mM. A plasma amino acids analysis revealed elevated ornithine (196 µM; normal 19-81 µM), decreased citrulline (3 µM; normal 19-62 µM), and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid (603.5 mg/mg creatinine) and a mild urinary uracil peak. No liver biopsy or genetic analysis was performed. The accumulated evidence led to a diagnosis of late-onset ornithine carbamoyltransferase deficiency. After 5 days, the patient's mental status returned to normal. He continued to receive sodium benzoate (3 g) and arginine (3 g) three times daily. The protein-free formula, which was administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels ( Fig. 1 ). The patient was discharged home after 2 weeks with instructions to continue the medication and formula. His family received special counseling on diet and emergency management before his discharge."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"arginine ( 3 g ) and sodium benzoate ( 3 g ) were administered via nasogastric tube every 4 - 6 hr . Dextrose solution ( 10 % ) was supplied intravenously , and a protein - free formula was supplied via a feeding tube",
"He continued to receive sodium benzoate ( 3 g ) and arginine ( 3 g ) three times daily . The protein - free formula , which was administered continuously , was gradually changed to increase the dietary protein without a significant rise in serum ammonia levels"
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits",
"bleeding gums."
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Gastrointestinal-System
|
GI
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Patient-History
|
History
|
[
"An 18 - year - old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi - Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16 - year - old brother also complained of similar problems. Systemic history - both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2 - 3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows."
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Neurology
|
Neuro
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds",
"Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits",
"Orthopantomograph showed severe horizontal bone loss.."
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Cardiovascular-System
|
CVS
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Endocrinology
|
ENDO
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Genitourinary-System
|
GU
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Respiratory-System
|
RESP
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Musculoskeletal-System
|
MSK
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"more teeth present",
"generalized mobility of teeth and bleeding gums.",
"patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility."
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Dermatology
|
DERM
|
[
"considerable hyperkeratosis of palms and soles",
"marked palmoplantar hyperkeratosis",
"Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.",
"bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees"
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Pregnancy
|
Pregnancy
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Lymphatic-System
|
LYMPH
|
[] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"18 - year - old"
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 2 - 3 years ."
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Papillon - Lefevre syndrome"
] |
3118082
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits. On the basis of history, clinical and radiographical features a diagnosis of Papillon-Lefevre syndrome was made.', 'CASE REPORT': 'An 18-year-old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguineous marriage of the parents. Both parents were healthy. History reveled that his 16-year-old brother also complained of similar problems. Systemic history-both the cases showed marked palmoplantar hyperkeratosis. Both patients were alert and cooperative. Onset of skin disorder was by the age of 2-3 years. Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.', 'Case 1': 'Patient showed bilateral hyperkeratosis of palms, soles, dorsal surface of fingers and knees. Intraoral examination showed that the patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility. Orthopantomograph showed severe horizontal bone loss..'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"height of 158 cm ( – 1 SD ), weight of 85 kg ( > 2 SD ), body mass index ( BMI ) of 34.13 kg / m 2 ( greater than the 97th centile ) and blood pressure of 150/80 mmHg."
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Gastrointestinal-System
|
GI
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Patient-History
|
History
|
[
"A 15 - yr - old male patient was referred to our department with a one - year history of gradual worsening of tremors.",
"healthy, second - degree consanguineous parents",
"He was diagnosed, at 40 d old, with salt - wasting 21 - hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome",
"hypertension at 8 yr of age",
"Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Neurology
|
Neuro
|
[
"Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline",
"Brain MRI showed bilateral periventricular white matter hyperintensity on T2 - weighted and fluid - attenuated inversion recovery ( FLAIR ) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2 - weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity ( arrow ) and cortico - subcortical atrophy. Fig. 2 FLAIR - weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity ( arrow ) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1 - weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico - subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ).",
"Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"17 - OH progesterone level of 215 ng / ml,",
"Detailed investigations ( renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11 - Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia ) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made",
"basal level of 17 - OH progesterone at 12 ng / ml, ACTH of 77 pg / ml ( reference range : 10–50 pg / ml ) and androstenedione of 2.12 nmol / l ( reference range : 0.77–1.82 nmol / l )",
"Brain MRI showed bilateral periventricular white matter hyperintensity on T2 - weighted and fluid - attenuated inversion recovery ( FLAIR ) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2 - weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity ( arrow ) and cortico - subcortical atrophy. Fig. 2 FLAIR - weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity ( arrow ) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1 - weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico - subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 )",
"Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative."
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Cardiovascular-System
|
CVS
|
[
"hypertension"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Endocrinology
|
ENDO
|
[
"salt - wasting",
"acute dehydration, salt loss syndrome",
"Two adrenal crises occurred at one and nine years of age",
"Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Genitourinary-System
|
GU
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Respiratory-System
|
RESP
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"ophthalmologic were normal"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Dermatology
|
DERM
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Pregnancy
|
Pregnancy
|
[
"He was born at term, weighing 2,900 g,"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"15 - yr - old"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"40 d old"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"with salt - wasting 21 - hydroxylase deficiency CAH"
] |
3687627
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome and a 17-OH progesterone level of 215 ng/ml, and he was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age and responded well to Nifedipine. Detailed investigations (renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11-Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertension was made. During follow-up, he always maintained good adherence to treatment. Two adrenal crises occurred at one and nine years of age and were precipitated by viral illnesses. The average hydrocortisone dose was 16 mg/m 2 per day, and fludrocortisone was continued at a dose of 100 µg twice daily. Physical findings on the current hospitalization were as follows: height of 158 cm (–1 SD), weight of 85 kg (>2 SD), body mass index (BMI) of 34.13 kg/m 2 (greater than the 97th centile) and blood pressure of 150/80 mmHg. Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline. The results of an ophthalmologic were normal. The results of biochemical investigations were as follow: basal level of 17-OH progesterone at 12 ng/ml, ACTH of 77 pg/ml (reference range: 10–50 pg/ml) and androstenedione of 2.12 nmol/l (reference range: 0.77–1.82 nmol/l). Brain MRI showed bilateral periventricular white matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images, which is consistent with leukoencephalopathy ( Figs. 1, 2 Fig. 1 T2-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) and cortico-subcortical atrophy. Fig. 2 FLAIR-weighted axial MRI sequence showing bilateral periventricular white matter hyperintensity (arrow) located mainly in the posterior regions with agenesis of the corpus callosum. Fig. 3 T1-weighted sagittal MRI sequence showing complete agenesis of the corpus callosum. ). The lesions predominated in the posterior regions and were associated with cortico-subcortical atrophy ( Figs. 1, 2 ) and complete agenesis of the corpus callosum ( Figs. 1 – 3 ). The patient was extensively evaluated. Routine blood and urine tests were normal as well as blood tests for liver function, lactate, amino acids, ceruloplasmin, inflammatory markers and urine amino and organic acids. Lumbar puncture revealed normal CSF protein and glucose levels, and neither oligoclonal bands nor evidence of infection were detected. The serum leukocyte activity of Arylsulfatase A was normal. Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative. The diagnosis of brain MRI abnormalities associated with CAH was made. Following administration of propranolol, the tremors decreased moderately.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"hydrocortisone , fludrocortisone and salt"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Gastrointestinal-System
|
GI
|
[
"vomiting and diarrhea"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Patient-History
|
History
|
[
"A 33 - year - old G2P1 woman presented to our obstetric unit at 17 weeks ' gestation for antenatal care of her second pregnancy",
"Upon reevaluation of family history, however, the parents revealed that their 27 - month - old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36 + 2 weeks ' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia ( 125 mEq / L ) and hyperkalemia ( 6.6 mEq / L ). Basal adrenal hormone levels and an adrenocoticotropic hormone ( ACTH ) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography ( CT ) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C > T in exon 7 of StAR. She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose",
"Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Neurology
|
Neuro
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively",
"karyotype by amniocentesis was 46,XX",
"Level II ultrasonography after 21 weeks ' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia",
"homozygous c.772C > T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 )",
"Screening for congenital adrenal hyperplasia was normal, 17α - OH progesterone ( 17α - OHP ) 8.33 ng / mL ( normal 1.7 - 25.0 ng / mL )",
"laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography",
"Genetic evaluation from the peripheral blood confirmed the same mutation"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Cardiovascular-System
|
CVS
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Endocrinology
|
ENDO
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Genitourinary-System
|
GU
|
[
"normal female external genitalia"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Respiratory-System
|
RESP
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Musculoskeletal-System
|
MSK
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Dermatology
|
DERM
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Pregnancy
|
Pregnancy
|
[
"G2P1",
"17 weeks ' gestation",
"second pregnancy",
"Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively",
"Level II ultrasonography after 21 weeks ' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia",
"A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks ' gestation"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Lymphatic-System
|
LYMPH
|
[] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"33 - year - old"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Age-of-Onset
|
Age (of onset)
|
[
"Four months after birth"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CLAH"
] |
3220249
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level, 0.6 MoM and 0.52 MoM, respectively, which were interpreted as a high risk of Edward syndrome (1 : 79) and Smith-Lemli-Opitz (SLO) syndrome (1 : 7). 8, 9 The karyotype by amniocentesis was 46,XX. Level II ultrasonography after 21 weeks' gestation demonstrated no structural abnormalities including the adrenal glands and genitalia. Upon reevaluation of family history, however, the parents revealed that their 27-month-old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36+2 weeks' gestation with birth weight 2,360 g. Initial symptoms included projectile vomiting and poor oral intake, with lethargy and hyperpigmentaion 10 weeks after birth. The initial laboratory finding demonstrated hyponatremia (125 mEq/L) and hyperkalemia (6.6 mEq/L). Basal adrenal hormone levels and an adrenocoticotropic hormone (ACTH) stimulation test showed a severe deficiency of adrenal hormones ( Table 1 ). Abdominal ultrasonography and computed tomography (CT) demonstrated diffusely enlarged adrenal glands with markedly low density. Gene analysis revealed a normal CYP21A2 gene sequence but a homozygous mutation c.772C>T in exon 7 of StAR . She was diagnosed with CLAH and treated with stress doses of hydrocortisone and 1036mineralocorticoid, which were tapered to a maintenance dose. Therefore, prenatal testing was performed in the second sibling for the relevant disease-causing mutation from fetal cells by amniocentesis. Exon 7 and its adjacent intronic sequences were amplified by PCR, using forward primer 5'-CCTGGCAGCCTGTTTGTGATAG-3' and reverse primer 5'-ATGAGCGTGTGTACCAGTGCAG-3', which revealed a homozygous c.772C>T substitution resulting in a glycine to stop codon substitution at amino acid 258 ( Fig. 1 ). A 2,665 g female baby was delivered vaginally with Apgar scores of 7 and 9 at 40 weeks' gestation. At birth, the baby presented with normal female external genitalia. Screening for congenital adrenal hyperplasia was normal, 17α-OH progesterone (17α-OHP) 8.33 ng/mL (normal 1.7-25.0 ng/mL). There were no clinical signs or symptoms until 3 months after birth. Four months after birth, the second baby was admitted to our hospital with vomiting and diarrhea after DTaP vaccination. Her laboratory profile was similar to that of her sister, but without enlargement of adrenal glands on ultrasonography ( Table 1 ). Genetic evaluation from the peripheral blood confirmed the same mutation. She was diagnosed with CLAH and discharged on the 9th day of hospitalization after treatment of mineralocorticoid and hydrocortisone."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"treatment of mineralocorticoid and hydrocortisone ."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Her height was 110 cm ( 10 - 25th percentile ), weight 23 kg ( 75 - 90th percentile ).",
"Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39 / min, pulse rate was 112 / min and body temperature was 37.1 ° C. '"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Gastrointestinal-System
|
GI
|
[
"poor weight gain",
"without history of vomiting or diarrhea"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Patient-History
|
History
|
[
"Orchiectomy",
"A 28 - day - old phenotypic female infant was admitted to pediatric endocrinology clinic of Al - Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length of 51 cm ( 50 th percentile ) and head circumference of 34 cm ( 50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Neurology
|
Neuro
|
[
"lethargy",
"lethargic",
"lethargic",
"depressed fontanele"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Ultrasonographic examination revealed small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries and adrenal glands had normal sizes",
"normal laboratory results except for 17 OHP which was lower during the period",
"Renal Doppler ultrasonography and scan was performed which was normal",
"Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis",
"Chromosome study showed 46XY pattern",
"Na : 142 mmol / l, K : 4.5 mmol / l,17OHP : 0.1 ng / ml, ACTH : 22 pg / ml, Renin:50.8 pg / ml, Aldosterone : 105 pg / ml"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Cardiovascular-System
|
CVS
|
[
"high blood pressure",
"mild dehydration and decreased skin turgor."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Endocrinology
|
ENDO
|
[
"adrenal glands had normal sizes",
"decreased cortisol level and increased ACTH level",
"adrenal insufficiency"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Genitourinary-System
|
GU
|
[
"small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries",
"hyponatremia, hyperkalemia",
"testicles in the abdominal cavity and uterus was not detected in pelvis",
"External genitalia seemed normal female type with no ambiguity"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Respiratory-System
|
RESP
|
[] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"mild hyperpigmentation, including oral cavity."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Dermatology
|
DERM
|
[
"no hyperpigmentation",
"decreased skin turgor.",
"mild hyperpigmentation, including oral cavity."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Pregnancy
|
Pregnancy
|
[
"full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length of 51 cm ( 50 th percentile ) and head circumference of 34 cm ( 50 th percentile).The patient had no perinatal problem."
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"28 - day - old"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"28 - day - old"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"lipoid CAH"
] |
3415193
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated. After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition. She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period. At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern. On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.', 'CASE REPORT': 'A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full-term infant with a birth weight of 3250 gr (50 th percentile), length of 51 cm (50 th percentile) and head circumference of 34 cm (50 th percentile).The patient had no perinatal problem. She was the 1 st child of nonconsanguineous parents. At the time of admission, she was lethargic without history of vomiting or diarrhea. There was not any familial history of similar presentation or features endocrine disease. She had no history of drug consumption except vitamin A+D.', 'Physical examination': 'She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor. In skin examination, she had mild hyperpigmentation, including oral cavity. External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination. Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"replacement therapy with standard doses of glucocorticoid ( hydrocortisone ) and mineralocorticoid ( fludrocortisone ) and sodium chloride was initiated . After replacement therapy , electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition .",
"fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone ."
] |
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