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|---|---|---|---|---|---|
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AIP"
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | IEM-Treatment | IEM_Treatment | [
"AIP",
"The patient 's abdominal pain resolved in less than 24 h with carbohydrate ( glucose ) loading and highly caloric diet . Therefore , intravenous hemin was not necessary at that time ."
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Vitals-and-Hematology | Vitals_Hema | [
"short stature for his age ( 131 vs. 154 cm )",
"haemoglobin to be 6.7 g / dl."
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Gastrointestinal-System | GI | [
"mild hepatomegaly"
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Patient-History | History | [
"A 13 - year - old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There w... |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Neurology | Neuro | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Laboratory-and-Imaging | Lab_Image | [
"Routine laboratory investigations revealed haemoglobin to be 6.7 g / dl. Liver function tests, thyroid profile, serum cortisol ( 15.25 μg / dL ), and blood sugar were normal. Chest X - ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng / ml ( normal range 1–14.4 ng / ml ... |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Cardiovascular-System | CVS | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Endocrinology | ENDO | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Genitourinary-System | GU | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Respiratory-System | RESP | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Musculoskeletal-System | MSK | [
"short stature",
"Hallux valgus was also present"
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Eyes-Ears-Nose-Throat | EENT | [
"hearing loss for more than 5 years which was progressive"
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Dermatology | DERM | [
"hyperpigmentation and hypertrichosis of lower extremities and trunk",
"well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bi... |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Pregnancy | Pregnancy | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Lymphatic-System | LYMPH | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Age-at-Presentation | Age (at case presentation) | [
"13 - year - old"
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Age-of-Onset | Age (of onset) | [] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings"
] |
5838761 | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | IEM-Treatment | IEM_Treatment | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Vitals-and-Hematology | Vitals_Hema | [
"His respiratory rate was 50 breaths/ min and was saturating at 99 % in air. His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Gastrointestinal-System | GI | [
"poor feeding",
"Examinations of the respiratory system and abdomen were within normal limits"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Patient-History | History | [
"A 10 - day - old male infant presented to the emergency department with a 3 - day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, resp... |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Neurology | Neuro | [
"poor feeding and lethargy",
"No fever or irritability",
"crying, alert"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Laboratory-and-Imaging | Lab_Image | [
"His initial blood gas showed the following : pH 7.30 ( 7.35–7.45 ), HCO 3 16.1 mmol / L ( 22–28 mmol / L ), BE −9.0 mmol / L ( −4.0 to +4.0 mmol / L ), Na 112 mmol / L ( 135–145 mmol / L ), K 9.7 mmol / L ( 3.5–5.0 mmol / L ), ionised Ca 1.16 mmol / L ( 1.0–1.3 mmol / L ), glucose 3.9 mmol / L ( 3.0–6.5 mmol / L )... |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Cardiovascular-System | CVS | [
"bradycardic",
"sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle",
"His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air",
"he had a 2/6 systolic murmur best heard in the pulmonary area",
"His ECG showed broad complex bradycardia",
"r... |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Endocrinology | ENDO | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Genitourinary-System | GU | [
"hyponatraemia and hyperkalaemia",
"genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant ’s skin tone"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Respiratory-System | RESP | [
"His chest was clear",
"Examinations of the respiratory system and abdomen were within normal limits"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Musculoskeletal-System | MSK | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Eyes-Ears-Nose-Throat | EENT | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Dermatology | DERM | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Pregnancy | Pregnancy | [
"He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg ( 2nd–9th centile ); length 49.0 cm ( 25th centile ) and head circumference 36.0 cm ( 9th–25th centile ). His antenat... |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Lymphatic-System | LYMPH | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Age-at-Presentation | Age (at case presentation) | [
"10 - day - old"
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Age-of-Onset | Age (of onset) | [] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"A diagnosis of CAH secondary to 21 - hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies ."
] |
6352754 | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | IEM-Treatment | IEM_Treatment | [
"hydrocortisone intravenously ( 4 mg / kg ) and fludrocortisone acetate ( 50 mcg ) .",
". He was discharged home with oral hydrocortisone ( 2 mg / kg 6 hourly ) , fludrocortisone acetate ( 50 mcg once daily ) and 0.9 % sodium chloride ( 1 mmol / kg twice daily ) ."
] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Vitals-and-Hematology | Vitals_Hema | [
"bilateral thrombosis of the stented SFAs",
"acute superficial femoral artery ( SFA ) thrombosis"
] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Gastrointestinal-System | GI | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Patient-History | History | [
"Patient 1 ( a woman, 68 years old ) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left",
"Patient 2 ( a woman, 65 years old ) was diagnosed with PXE at 20 year... |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Neurology | Neuro | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Laboratory-and-Imaging | Lab_Image | [
"Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )",
"duplex scanning disclosed bilateral thrombosis of the stented SFAs",
"Intraoperative angiography demonstrating stenosis of the left superficial femoral artery ( SFA )",
"Duplex scans disclosed ... |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Cardiovascular-System | CVS | [
"long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left.",
"Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )",
"intermittent claudication recurred",
"stenosis of t... |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Endocrinology | ENDO | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Genitourinary-System | GU | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Respiratory-System | RESP | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Musculoskeletal-System | MSK | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Eyes-Ears-Nose-Throat | EENT | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Dermatology | DERM | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Pregnancy | Pregnancy | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Lymphatic-System | LYMPH | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Age-at-Presentation | Age (at case presentation) | [
"65 years old"
] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Age-of-Onset | Age (of onset) | [] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosed with PXE at 18 years of age .",
"diagnosed with PXE at 20 years of age",
"was diagnosed with PXE at 8 years of age .",
"diagnosed with PXE at 41 years of age ."
] |
6849992 | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | IEM-Treatment | IEM_Treatment | [
", 68 years old"
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Vitals-and-Hematology | Vitals_Hema | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Gastrointestinal-System | GI | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Patient-History | History | [
"A 32 - year - old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back."
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Neurology | Neuro | [
"mentally retarded",
"gait instability",
"ataxia",
"hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped ... |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Laboratory-and-Imaging | Lab_Image | [
"Lipid profile revealed total cholesterol of 306 mg / dl ( LDL 205 mg / dl, VLDL 46mg / dl, HDL 55 mg / dl ) and triglycerides of 526 mg / dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of... |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Cardiovascular-System | CVS | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Endocrinology | ENDO | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Genitourinary-System | GU | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Respiratory-System | RESP | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Musculoskeletal-System | MSK | [
"fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images"
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Eyes-Ears-Nose-Throat | EENT | [
"cataracts in both eyes"
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Dermatology | DERM | [
"right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints",
"soft, non - tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence",
"tissue swellings along the posterior aspect of both ankle joints and calcaneal bones",
"Hyopint... |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Pregnancy | Pregnancy | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Lymphatic-System | LYMPH | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Age-at-Presentation | Age (at case presentation) | [
"32 - year - old"
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Age-of-Onset | Age (of onset) | [] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"With a combined spectrum of clinical , biochemical and radiological findings , a diagnosis of cerebrotendinous xanthomatosis(CTX ) was made . '"
] |
6857253 | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | IEM-Treatment | IEM_Treatment | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Vitals-and-Hematology | Vitals_Hema | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Gastrointestinal-System | GI | [
"inflammatory bowel syndrome"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Patient-History | History | [
"A 62 - year - old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5 - year history of an asymptomatic eruption on the neck",
"no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eru... |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Neurology | Neuro | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Laboratory-and-Imaging | Lab_Image | [
"Echocardiography was unremarkable",
"A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticul... |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Cardiovascular-System | CVS | [
"Echocardiography was unremarkable",
"hypertension",
"hypertension"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Endocrinology | ENDO | [
"diabetes mellitus Type 2,"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Genitourinary-System | GU | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Respiratory-System | RESP | [
"chronic obstructive pulmonary disease",
"asthma"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Musculoskeletal-System | MSK | [
"osteoarthritis",
"rheumatoid arthritis"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Eyes-Ears-Nose-Throat | EENT | [
"The ophthalmologic examination was normal",
"The eye examination was normal"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Dermatology | DERM | [
"asymptomatic eruption on the neck.",
"numerous soft, oval - to - round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area",
"A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The der... |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Pregnancy | Pregnancy | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Lymphatic-System | LYMPH | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Age-at-Presentation | Age (at case presentation) | [
"62 - year - old",
"68 - year - old",
"61 - year - old",
"77 - year - old",
"71 - year - old"
] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Age-of-Onset | Age (of onset) | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
6862365 | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | {'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter... | IEM-Treatment | IEM_Treatment | [] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Vitals-and-Hematology | Vitals_Hema | [
"microcytic anemia with hemoglobin levels of 10.1 g / dl, and a platelet count of 5.14 lakhs / cu.mm"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Gastrointestinal-System | GI | [
"hepatomegaly",
"hepatomegaly"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Patient-History | History | [
"A 12 - year - old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of... |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Neurology | Neuro | [
"her other developmental milestones were normal",
"bilateral sensorineural hearing loss"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Laboratory-and-Imaging | Lab_Image | [
"ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g / dl, and a platelet count of 5.14 lakhs / cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, f... |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Cardiovascular-System | CVS | [
"swelling of legs"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Endocrinology | ENDO | [
"Thyroid profile, fasting, and post - prandial blood sugar levels were normal"
] |
6536078 | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | {'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw... | Genitourinary-System | GU | [
"menarche at 11 years of age and has had regular menstrual cycles",
"normal genitalia"
] |
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