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 |
|---|---|---|---|---|---|
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Age-at-Presentation | Age (at case presentation) | [
"65 - year - old"
] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Age-of-Onset | Age (of onset) | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"VDRR",
"diagnosed with VDDR"
] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | IEM-Treatment | IEM_Treatment | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Vitals-and-Hematology | Vitals_Hema | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Gastrointestinal-System | GI | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Patient-History | History | [
"A 9 - year - old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour"
] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Neurology | Neuro | [
"aggressive behaviour"
] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Laboratory-and-Imaging | Lab_Image | [
"On ultrasound, there were well - defined, heterogeneous, predominantly hypoechoic, round - to - oval masses in both testes",
"The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high",
"Scrotal ultrasound revealed well - defined, heter... |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Cardiovascular-System | CVS | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Endocrinology | ENDO | [
"precocious puberty",
"testicular adrenal rest tumor",
"adrenal crisis",
"precocious puberty, short stature",
"The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high",
"Abdominal ultrasound did not reveal any mass lesion in the ... |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Genitourinary-System | GU | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Respiratory-System | RESP | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Musculoskeletal-System | MSK | [
"short stature"
] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Eyes-Ears-Nose-Throat | EENT | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Dermatology | DERM | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Pregnancy | Pregnancy | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Lymphatic-System | LYMPH | [] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Age-at-Presentation | Age (at case presentation) | [
"9 - year - old",
"A 9 - year - old"
] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Age-of-Onset | Age (of onset) | [
"age of 1 year"
] |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosis of CAH and precocious puberty",
"Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses , a diagnosis of testicular adrenal rest tumor was made",
"diagnosed with CAH at the age of 1 year following an adrenal crisis",
"In a patient with CAH and bi... |
5894002 | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | {'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin... | IEM-Treatment | IEM_Treatment | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Vitals-and-Hematology | Vitals_Hema | [
"Complete blood count and liver function tests were also normal",
"the patient ’s SpO 2 remained between 97 % and 100",
"heart rate varied from 82 to 96 beat / min",
"Vital signs were stable during the surgery"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Gastrointestinal-System | GI | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Patient-History | History | [
"A 19 - year - old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents ( cousins ). Her older brother also suffered from PLS... |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Neurology | Neuro | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Laboratory-and-Imaging | Lab_Image | [
"In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X - ray, and skull X - ray were normal",
"Complete blood count and liver functi... |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Cardiovascular-System | CVS | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Endocrinology | ENDO | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Genitourinary-System | GU | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Respiratory-System | RESP | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Musculoskeletal-System | MSK | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Eyes-Ears-Nose-Throat | EENT | [
"complete loss of teeth by the age of 14 which",
"permanent and deciduous teeth were lost after erupting normally",
"complete edentulous ridges with normal overlying mucosa",
"total loss of her teeth"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Dermatology | DERM | [
"palmoplantar hyperkeratosis from the age of 4 years",
"diffuse palmoplantar keratoderma",
"palmoplantar hyperkeratosis"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Pregnancy | Pregnancy | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Lymphatic-System | LYMPH | [] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Age-at-Presentation | Age (at case presentation) | [
"19 - year - old",
"19 - year - old"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Age-of-Onset | Age (of onset) | [
"age of 4 years"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"characteristic criteria for PLS"
] |
5554421 | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | IEM-Treatment | IEM_Treatment | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Vitals-and-Hematology | Vitals_Hema | [
"he weighed 38 kg and his height was 148 cm",
"pulse rate was 47 / minute"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Gastrointestinal-System | GI | [
"recurrent episodes of vomiting",
"liver was not enlarged"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Patient-History | History | [
"A 14 - year - old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light",
"His parents reported that he was not a sporty person and became fatigued earlier than his peers during physic... |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Neurology | Neuro | [
"no episodes of syncope, pre - syncope or night terrors",
"His developmental history was normal",
"Clinical evaluation of the neurological system was normal"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Laboratory-and-Imaging | Lab_Image | [
"Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non - diagnostic",
"His chest x - ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal li... |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Cardiovascular-System | CVS | [
"low heart rate",
"not associated with breathlessness or chest pain. There were no episodes of syncope, pre - syncope",
"peripheral perfusion was good and all peripheral pulses were felt equally",
"regular pulses and a normal volume",
"no clinical evidence of cardiomegaly. His first heart sound was normal, ... |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Endocrinology | ENDO | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Genitourinary-System | GU | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Respiratory-System | RESP | [
"not associated with breathlessness or chest pain",
"His chest was clear on auscultation",
"clear lung fields"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Musculoskeletal-System | MSK | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Eyes-Ears-Nose-Throat | EENT | [
"progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina",
"Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Dermatology | DERM | [
"no dysmorphic features or congenital anomalies"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Pregnancy | Pregnancy | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Lymphatic-System | LYMPH | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Age-at-Presentation | Age (at case presentation) | [
"14 - year - old"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Age-of-Onset | Age (of onset) | [] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Kearns Sayre Syndrome"
] |
5478910 | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | {'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re... | IEM-Treatment | IEM_Treatment | [
"As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra - Hisian rhythm he was implanted with a dual chamber transvenous pacing system ( St Jude 's Accent MRI system with 52 cm ( atrial ) and 58 cm ( ventricular ) St Jude Tendril MRI leads ) . The pacemaker was... |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Vitals-and-Hematology | Vitals_Hema | [
"pulmonary embolism"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Gastrointestinal-System | GI | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Patient-History | History | [
"A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 ... |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Neurology | Neuro | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Laboratory-and-Imaging | Lab_Image | [
"Supine KUB ( A ) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre - operation non - contrast urinary tract CT ( B + C ) showing multiple stones in the urinary bladder and prostate",
"Laboratory investigations revea... |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Cardiovascular-System | CVS | [
"hypertension",
"pulmonary embolism"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Endocrinology | ENDO | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Genitourinary-System | GU | [
"severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urinati... |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Respiratory-System | RESP | [
"asthma",
"pulmonary embolism"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Musculoskeletal-System | MSK | [
"presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB ), short stature",
"advanced changes of alkaptonuria seen in spine"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Eyes-Ears-Nose-Throat | EENT | [
"black discoloration of the nose and ear cartilages"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Dermatology | DERM | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Pregnancy | Pregnancy | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Lymphatic-System | LYMPH | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Age-at-Presentation | Age (at case presentation) | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Age-of-Onset | Age (of onset) | [] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AKU",
"alkaptonuria"
] |
5544469 | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | {'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy... | IEM-Treatment | IEM_Treatment | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Vitals-and-Hematology | Vitals_Hema | [
"The blood pressure at clinic was 80/50 mm Hg",
"104.5 cm tall and weighs 23.3 kg"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Gastrointestinal-System | GI | [
"vomiting",
"vomiting"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Patient-History | History | [
"An 11 - month - old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full - term by Cesarean section and was the second child of the nonconsanguineous parents. The patient 's older sibling was phenotypi... |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Neurology | Neuro | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Laboratory-and-Imaging | Lab_Image | [
"hyponatremia and an elevated adrenocorticotropic hormone ( ACTH ) level were detected by tests.",
"the baby had a mildly elevated cholesterol level of 5.72 mmol / L ( normal : 2.85–5.70 mmol / L ), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol / L ( normal : 135–145 mmol / L ) with ... |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Cardiovascular-System | CVS | [
"Lacking hypertension"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Endocrinology | ENDO | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Genitourinary-System | GU | [
"female external genitalia",
"plasma sodium level was 131.7 mmol / L ( normal : 135–145 mmol / L ) with potassium concentration of 6.61 mmol / L ( normal : 3.5–5.5 mmol / L )",
"Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular - like tissues were detected in the bilater... |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Respiratory-System | RESP | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Musculoskeletal-System | MSK | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Eyes-Ears-Nose-Throat | EENT | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Dermatology | DERM | [
"skin hyperpigmentation",
"skin hyperpigmentation"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Pregnancy | Pregnancy | [
"was born at full - term by Cesarean section"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Lymphatic-System | LYMPH | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Age-at-Presentation | Age (at case presentation) | [
"11 - month - old",
"11 - month - old"
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Age-of-Onset | Age (of onset) | [] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"She was suspected of having LCAH , and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT ( p. Lys236Thrfs∗47 ) on exon 6 of the STAR gene ."
] |
5457889 | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | IEM-Treatment | IEM_Treatment | [
"The patient was prescribed hydrocortisone 10 to 12 mg / m 2 and 9α - fludrocortisone 100 μg / d."
] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Vitals-and-Hematology | Vitals_Hema | [
"normal vital signs"
] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Gastrointestinal-System | GI | [
"neuro - visceral and psychiatric manifestations",
"right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion",
"mild pain distress",
"acute abdominal pain",
"abdominal pain",
"four recurrent milder attacks in ... |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Patient-History | History | [
"We present a 24 year - old woman who developed acute intermittent porphyria five days after right hemi - colectomy",
"A 24 year - old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only reliev... |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Neurology | Neuro | [
"neuro - visceral and psychiatric manifestations",
"sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light",
"brain CT scan and magnetic resonance imaging ( MRI ), and cerebrospinal fluid analysis. These... |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Laboratory-and-Imaging | Lab_Image | [
"positive urine test for porphobilinogen",
"presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene ( c.760delC p Leu254 )",
"Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspart... |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Cardiovascular-System | CVS | [] |
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