serial-number stringlengths 6 9 | pmcid stringclasses 138
values | text stringclasses 138
values | context stringclasses 138
values | role stringclasses 18
values | role-name stringclasses 18
values | raw-initial-ground-truth listlengths 0 18 |
|---|---|---|---|---|---|---|
test-1001 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Eyes-Ears-Nose-Throat | EENT | [
"Funduscopic examination was normal"
] |
test-1002 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Dermatology | DERM | [
"ichthyosis",
"had ichthyosis",
"Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen",
"Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis"
] |
test-1003 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Pregnancy | Pregnancy | [] |
test-1004 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Lymphatic-System | LYMPH | [] |
test-1005 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Age-at-Presentation | Age (at case presentation) | [
"2 - year - old"
] |
test-1006 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Age-of-Onset | Age (of onset) | [
"at birth"
] |
test-1007 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"the diagnosis of SLS was confirmed ."
] |
test-1008 | 4958706 | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | IEM-Treatment | IEM_Treatment | [] |
test-1009 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Vitals-and-Hematology | Vitals_Hema | [
"Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia"
] |
test-1010 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Gastrointestinal-System | GI | [] |
test-1011 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Patient-History | History | [
"Case one was a 30 - year - old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handli... |
test-1012 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Neurology | Neuro | [
"mental retardation"
] |
test-1013 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Laboratory-and-Imaging | Lab_Image | [
"Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin",
"Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia",
"His serum immunoglobulin assa... |
test-1014 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Cardiovascular-System | CVS | [] |
test-1015 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Endocrinology | ENDO | [] |
test-1016 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Genitourinary-System | GU | [] |
test-1017 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Respiratory-System | RESP | [
"recurrent upper respiratory tract infections"
] |
test-1018 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Musculoskeletal-System | MSK | [
"severe growth retardation"
] |
test-1019 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Eyes-Ears-Nose-Throat | EENT | [] |
test-1020 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Dermatology | DERM | [
"asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body",
"initial lesions started in the chest and then spread to the entire body in 2 years",
"no history of photosensitivity",
"skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within n... |
test-1021 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Pregnancy | Pregnancy | [] |
test-1022 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Lymphatic-System | LYMPH | [] |
test-1023 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Age-at-Presentation | Age (at case presentation) | [
"30 - year - old",
"22 - year - old",
"9 - year - old",
"21 - year - old"
] |
test-1024 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Age-of-Onset | Age (of onset) | [
"age of 1 - year ."
] |
test-1025 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"a diagnosis of dyschromatosis universalis hereditaria ( DUH ) was made",
"diagnosis of DUH was made in all the four cases .",
"a diagnosis of dyschromatosis symmetrica hereditaria was made"
] |
test-1026 | 4681223 | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | IEM-Treatment | IEM_Treatment | [] |
test-1027 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Vitals-and-Hematology | Vitals_Hema | [] |
test-1028 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Gastrointestinal-System | GI | [] |
test-1029 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Patient-History | History | [
"Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denie... |
test-1030 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Neurology | Neuro | [] |
test-1031 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Laboratory-and-Imaging | Lab_Image | [
"The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers",
"echocardiogram were normal.",
"The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis",
"normal electrocardiogram and echo... |
test-1032 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Cardiovascular-System | CVS | [
"Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal",
"arterial hypertension",
"Cardiological evaluation did not show changes ( normal electrocardiogram and echocardiogram )"
] |
test-1033 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Endocrinology | ENDO | [] |
test-1034 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Genitourinary-System | GU | [] |
test-1035 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Respiratory-System | RESP | [] |
test-1036 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Musculoskeletal-System | MSK | [] |
test-1037 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Eyes-Ears-Nose-Throat | EENT | [
"Right ophthalmoscopy, retinography and angiography revealed angioid streaks",
"Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography"
] |
test-1038 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Dermatology | DERM | [
"yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas.",
"grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal reg... |
test-1039 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Pregnancy | Pregnancy | [] |
test-1040 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Lymphatic-System | LYMPH | [] |
test-1041 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Age-at-Presentation | Age (at case presentation) | [
"55 years old"
] |
test-1042 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Age-of-Onset | Age (of onset) | [
"The lesions started during infancy"
] |
test-1043 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"pseudoxanthoma elasticum",
"pseudoxanthoma elasticum"
] |
test-1044 | 4155964 | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | {'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an... | IEM-Treatment | IEM_Treatment | [] |
test-1045 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Vitals-and-Hematology | Vitals_Hema | [
"Body weight was 8.8 kg ( 3 to 10 percentile ) in patient A, 9.4 kg ( 10 to 25 percentile ) in patient B, body length was 73.7 cm ( 3 to 10 percentile ) in patient A, 75.4 cm ( 10 to 25 percentile ) in patient B at 14 months of age."
] |
test-1046 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Gastrointestinal-System | GI | [
"poor oral intake, vomiting, lethargy and dehydration"
] |
test-1047 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Patient-History | History | [] |
test-1048 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Neurology | Neuro | [
"normal development"
] |
test-1049 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Laboratory-and-Imaging | Lab_Image | [
"slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit ( NICU ). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17 - OHP for congenital adrenal hyperplasia. The endocri... |
test-1050 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Cardiovascular-System | CVS | [] |
test-1051 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Endocrinology | ENDO | [
"slightly elevated potassium level and low level of sodium",
"The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory f... |
test-1052 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Genitourinary-System | GU | [] |
test-1053 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Respiratory-System | RESP | [
"desaturation and tachypnea."
] |
test-1054 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Musculoskeletal-System | MSK | [] |
test-1055 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Eyes-Ears-Nose-Throat | EENT | [] |
test-1056 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Dermatology | DERM | [
"hyperpigmentation",
"skin hyperpigmentation"
] |
test-1057 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Pregnancy | Pregnancy | [
"Phenotypic female twins ( A, B ) were born at 36 + 2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g ( < 10 percentile ) in A and 2,040 g ( 10 to 25 percentile ) in B, height was 43 cm ( 10 to 25 percentile ) in A and 44 cm ( 10 t... |
test-1058 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Lymphatic-System | LYMPH | [] |
test-1059 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Age-at-Presentation | Age (at case presentation) | [
"14 months of age ."
] |
test-1060 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Age-of-Onset | Age (of onset) | [] |
test-1061 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CLAH"
] |
test-1062 | 4027067 | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | {'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t... | IEM-Treatment | IEM_Treatment | [
"Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms , except hyponatremia",
"steroid supplementation ( fludrocortisones 0.2 mg daily in 2 divided doses , and hydrocortisone 12 mg daily in 3 divided doses ) at 14 months of age"
] |
test-1063 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Vitals-and-Hematology | Vitals_Hema | [
"Coagulopathy was also detected",
"height was 42 cm ( < 3rd percentile ), her weight was 2.9 kg ( < 3rd percentile ), and her head circumference was 33.5 cm ( < 3rd percentile",
"white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g / dL and a thrombocyte count of 93,000/µL.",
"The prothrombin tim... |
test-1064 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Gastrointestinal-System | GI | [] |
test-1065 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Patient-History | History | [
"A two - month - old female infant was transferred to Seoul National University Children 's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were ... |
test-1066 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Neurology | Neuro | [
"neurological development was delayed",
"brain MRI and chromosomal study produced normal findings."
] |
test-1067 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Laboratory-and-Imaging | Lab_Image | [
"aspartate aminotransferase ( AST ), 176 U / L; alanine aminotransferase ( ALT ), 106 U / L; total bilirubin, 1.76 mg / dL; and direct bilirubin, 1.2 mg / dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis... |
test-1068 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Cardiovascular-System | CVS | [] |
test-1069 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Endocrinology | ENDO | [
"hypoglycemia"
] |
test-1070 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Genitourinary-System | GU | [] |
test-1071 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Respiratory-System | RESP | [] |
test-1072 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Musculoskeletal-System | MSK | [] |
test-1073 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Eyes-Ears-Nose-Throat | EENT | [] |
test-1074 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Dermatology | DERM | [
"whole - body jaundice"
] |
test-1075 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Pregnancy | Pregnancy | [
"born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth.... |
test-1076 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Lymphatic-System | LYMPH | [] |
test-1077 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Age-at-Presentation | Age (at case presentation) | [
"two - month - old"
] |
test-1078 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Age-of-Onset | Age (of onset) | [
"birth"
] |
test-1079 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
test-1080 | 4942314 | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | {'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w... | IEM-Treatment | IEM_Treatment | [] |
test-1081 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Vitals-and-Hematology | Vitals_Hema | [] |
test-1082 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Gastrointestinal-System | GI | [] |
test-1083 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Patient-History | History | [
"We report a case of a 40 - year - old man with CAH/21 - hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinomabilateral orchiectomy",
"surgical removal of his right adrenal gland"
] |
test-1084 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Neurology | Neuro | [] |
test-1085 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Laboratory-and-Imaging | Lab_Image | [
"Serum hormonal screening showed high 17 - OH progesterone and ACTH",
"Serum tumor markers at 12.09.2013 : AFP 10.56 IU / mL ( AFP 4.03 IU / mL 01.2012 ), hGT beta and CEA – not elevated, semen analyses : azoospermia.",
"Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut ... |
test-1086 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Cardiovascular-System | CVS | [] |
test-1087 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Endocrinology | ENDO | [] |
test-1088 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Genitourinary-System | GU | [
"bilateral testicular masses",
"semen analyses : azoospermia",
"frozen sections were interpreted as malignant tumors. Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds ( 0.1–1.5 cm ). The microscopic examination showed complete... |
test-1089 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Respiratory-System | RESP | [] |
test-1090 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Musculoskeletal-System | MSK | [] |
test-1091 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Eyes-Ears-Nose-Throat | EENT | [] |
test-1092 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Dermatology | DERM | [] |
test-1093 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Pregnancy | Pregnancy | [] |
test-1094 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Lymphatic-System | LYMPH | [] |
test-1095 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Age-at-Presentation | Age (at case presentation) | [
"40 - year - old"
] |
test-1096 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Age-of-Onset | Age (of onset) | [] |
test-1097 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CAH/21 - hydroxylase deficiency",
"TARTs",
"CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules , pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes"
] |
test-1098 | 4672664 | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | IEM-Treatment | IEM_Treatment | [
"Prednisolone"
] |
test-1099 | 4862294 | {'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive... | {'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive... | Vitals-and-Hematology | Vitals_Hema | [] |
test-1100 | 4862294 | {'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive... | {'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive... | Gastrointestinal-System | GI | [] |
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