pmcid stringclasses 138
values | text stringclasses 138
values | context stringclasses 138
values | role stringclasses 18
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3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Gene analysis revealed CAH due to 21 - hydroxylase deficiency"
] |
3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | IEM-Treatment | IEM_Treatment | [
"administration of adrenal steroids . After 6 months of treatment with dexamethasone ( 0.25 mg daily ) , bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig . 2C , D ) . 17 - OHP and ACTH levels were normalized to 118 ng / dL and 20.8 pg / mL , respecti... |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Vitals-and-Hematology | Vitals_Hema | [
"normal complete hemogram ( including hemoglobin, total leukocyte count, differential leukocyte count ),"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Gastrointestinal-System | GI | [
"recurrent episodes of diarrhea"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Patient-History | History | [
"The second case was of a 28 - year - old male who was born of a non - consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs... |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Neurology | Neuro | [
"delayed psychomotor milestones with mental retardation",
"progressive spastic diplegia, tremulousness in both upper limbs and scanning speech.",
"impaired attention, vigilance, comprehension, and new learning ability.",
"Pan - sensory impairment was noted below knee with impaired limb coordination in upper l... |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Laboratory-and-Imaging | Lab_Image | [
"Patient 's skin biopsy of swelling over Achilles confirmed xanthoma",
"MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids",
"Blood investigations revealed a normal complete hemogram ( including hemoglobin, total leukocyte ... |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Cardiovascular-System | CVS | [] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Endocrinology | ENDO | [] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Genitourinary-System | GU | [
"gradually progressive bladder dysfunction"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Respiratory-System | RESP | [] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Musculoskeletal-System | MSK | [
"thoracic kyphosis with contractures at hip, knee, and ankle joints"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Eyes-Ears-Nose-Throat | EENT | [
"congenital cataract,"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Dermatology | DERM | [
"skin biopsy of swelling over Achilles confirmed xanthoma.",
"firm, non - tender swellings over ankles, patella, and elbows bilaterally",
"homogenous soft tissue swelling."
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Pregnancy | Pregnancy | [] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Lymphatic-System | LYMPH | [] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Age-at-Presentation | Age (at case presentation) | [
"28 - year - old",
"50 - year - old"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Age-of-Onset | Age (of onset) | [
"since early childhood"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CTX"
] |
3808070 | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | IEM-Treatment | IEM_Treatment | [
"atorvastatin besides physical therapy and chenodeoxycholic acid ( CDCA ) is being arranged"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Vitals-and-Hematology | Vitals_Hema | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Gastrointestinal-System | GI | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Patient-History | History | [
"A 5 year - old boy was referred to the Pediatric Dentistry Clinic with the complaint of \" a small ball that appeared in the mouth \"",
"The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Neurology | Neuro | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Laboratory-and-Imaging | Lab_Image | [
"Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino - enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Cardiovascular-System | CVS | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Endocrinology | ENDO | [
"hypophosphatemic vitamin D - resistant rickets"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Genitourinary-System | GU | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Respiratory-System | RESP | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Musculoskeletal-System | MSK | [
"short stature and several skeletal abnormalities"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Eyes-Ears-Nose-Throat | EENT | [
"small ball that appeared in the mouth",
"fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma",
"complete primary dentition and none of the teeth examined showed evidence of caries"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Dermatology | DERM | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Pregnancy | Pregnancy | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Lymphatic-System | LYMPH | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Age-at-Presentation | Age (at case presentation) | [
"5 year - old"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Age-of-Onset | Age (of onset) | [] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"hypophosphatemic vitamin D - resistant rickets"
] |
3891287 | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | IEM-Treatment | IEM_Treatment | [
"calcitriol and phosphate supplements"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Vitals-and-Hematology | Vitals_Hema | [
"gingival bleeding during brushing and eating, after the eruption of permanent teeth",
"gingiva, with excessive bleeding",
"bleeding on probing with deep periodontal pockets."
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Gastrointestinal-System | GI | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Patient-History | History | [
"The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected",
"Medical history was non - contributory",
"Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did... |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Neurology | Neuro | [
"steady gait",
"mental development was also normal"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Laboratory-and-Imaging | Lab_Image | [
"The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “ floating - teeth ” appearance. On lateral cephalogram, there was no evidence of intracranial calci... |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Cardiovascular-System | CVS | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Endocrinology | ENDO | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Genitourinary-System | GU | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Respiratory-System | RESP | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Musculoskeletal-System | MSK | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Eyes-Ears-Nose-Throat | EENT | [
"resorption of the alveolar ridge",
"deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient 's primary teeth were prematurely lost due to hypermobility. Ther... |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Dermatology | DERM | [
"eruptions on the scalp, legs, feet, arms, and hands at birth",
"reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season",
"increased keratinization of the skin of the palmar and plantar surfaces as well as the... |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Pregnancy | Pregnancy | [
"Mother had a full term normal uneventful pregnancy.",
"Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth,"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Lymphatic-System | LYMPH | [] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Age-at-Presentation | Age (at case presentation) | [
"11 - year - old",
"16 - year - old",
"16 - year - old"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Age-of-Onset | Age (of onset) | [
"at birth",
"1 st year of life"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"PLS"
] |
3768190 | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | {'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-... | IEM-Treatment | IEM_Treatment | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Vitals-and-Hematology | Vitals_Hema | [
"height : 145 cm, weight : 46 Kg, body mass index ( BMI ): 21.8, Tanner staging : 1"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Gastrointestinal-System | GI | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Patient-History | History | [
"family 's concern about her ambiguous genitalia",
"surgery ( vaginoplasty ) when she was 3 years old",
"she had been admitted in hospital 2 times because of electrolytes imbalance",
"The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Neurology | Neuro | [
"good strength and excessive fatigue after exercise"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Laboratory-and-Imaging | Lab_Image | [
"karyotype was XX"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Cardiovascular-System | CVS | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Endocrinology | ENDO | [
"girl with male phenotype",
"voice deepening and short stature",
"Tanner staging : 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement",
"ambiguous genitalia",
"admitted in hospital 2 times because of electrolytes imbalance",
"excessive fatigue and vomiting due to electrolytes imbalance"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Genitourinary-System | GU | [
"girl with male phenotype",
", lack of menstrual period, clitoral enlargement,",
"ambiguous genitalia,"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Respiratory-System | RESP | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Musculoskeletal-System | MSK | [
"increased muscle bulk",
"short stature.",
"prolonged dysfunction due to her ankle sprain"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Eyes-Ears-Nose-Throat | EENT | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Dermatology | DERM | [
"hirsutism",
"dark skin"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Pregnancy | Pregnancy | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Lymphatic-System | LYMPH | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Age-at-Presentation | Age (at case presentation) | [
"14 - year old"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Age-of-Onset | Age (of onset) | [] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Congenital Adrenal Hyperplasia ( C.A.H ) due to 21 hydroxylase deficiency"
] |
3445650 | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | IEM-Treatment | IEM_Treatment | [
"In her drug history , she had been using 30 mg hydrocortisone daily in three divided doses ( 15.8 mg / m 2 · d ) plus 100 mg fludrocortisone daily in 2 divided doses , but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Vitals-and-Hematology | Vitals_Hema | [
"mild thrombocytopenia, a bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs )",
"thrombocytopenia"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Gastrointestinal-System | GI | [
"diarrhea, poor appetite"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Patient-History | History | [
"consultation concerning suspected Gaucher disease",
"partial resection of the right lung due to an aspergilloma"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Neurology | Neuro | [
"mild tremor"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Laboratory-and-Imaging | Lab_Image | [
"mutations of c.1226A > G ( N370S ) and RecNci I ( L444P, A456P, and V460V ) in the GBA1 gene",
"recurrent positivity for M. avium and A. fumigatus was detected",
"bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs ).",
... |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Cardiovascular-System | CVS | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Endocrinology | ENDO | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Genitourinary-System | GU | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Respiratory-System | RESP | [
"recurrent pulmonary aspergillosis caused by Aspergillus fumigatus",
"chronic cough",
"mild pulmonary fibrosis and aspergillosis in the right lung",
"microbiological examination of secretions from a bronchoalveolar lavage ( BAL ) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis ... |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Musculoskeletal-System | MSK | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Eyes-Ears-Nose-Throat | EENT | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Dermatology | DERM | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Pregnancy | Pregnancy | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Lymphatic-System | LYMPH | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Age-at-Presentation | Age (at case presentation) | [
"65 - year - old"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Age-of-Onset | Age (of onset) | [] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"GD1",
"Gaucher disease"
] |
3916717 | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | {'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob... | IEM-Treatment | IEM_Treatment | [
"miglustat , which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme ® during 2009–2010 ( 9 ) . He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally .",
"After the Cerezyme ® supply shortage had ceased , t... |
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, ... | {'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, ... | Vitals-and-Hematology | Vitals_Hema | [
"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",
"moderate hemolytic anemia was also found ( red blood cells : 3.68 × 10 6, hemoglobin : 10.6 g / dl, hematocrit : ... |
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, ... | {'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, ... | Gastrointestinal-System | GI | [] |
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, ... | {'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, ... | Patient-History | History | [
"At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine.",
"hemolytic anemia of the newborn",
"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 ... |
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, ... | {'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, ... | Neurology | Neuro | [
"intellectual development was normal"
] |
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, ... | {'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, ... | Laboratory-and-Imaging | Lab_Image | [
"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 ) ),",
"urea, creatinine, uric acid, electrolytes, and alkaline ph... |
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, ... | {'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, ... | Cardiovascular-System | CVS | [] |
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, ... | {'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, ... | Endocrinology | ENDO | [] |
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, ... | {'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, ... | Genitourinary-System | GU | [
"episodes of red urine.",
"intensity of the red coloration of the urine varied from day to day.",
"Ultrasound examination of the kidneys and heart were normal"
] |
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