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-901 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Vitals-and-Hematology | Vitals_Hema | [
"and bleeding gum"
] |
test-902 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Gastrointestinal-System | GI | [] |
test-903 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Patient-History | History | [
"A 14 - year - old girl, visited to outpatient Department of Periodontia, Government Dental College and Hospital, Ahmedabad, India with chief complain of premature loss of deciduous and permanent teeth and mobility in remaining teeth",
"History revealed that her deciduous teeth had erupted normally, but exfoliate... |
test-904 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Neurology | Neuro | [] |
test-905 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Laboratory-and-Imaging | Lab_Image | [
"serum of the patients showed high immunoglobulin G ( IgG ) titer against A. actinomycetemcomitans. Moreover, A. actinomycetemcomitans colonies were cultured in high percentages from the pocket samples",
"serum IgG titers against A. actinomycetemcomitans decreased in the patients",
"Orthopantogram showed extens... |
test-906 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Cardiovascular-System | CVS | [] |
test-907 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Endocrinology | ENDO | [] |
test-908 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Genitourinary-System | GU | [] |
test-909 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Respiratory-System | RESP | [] |
test-910 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Musculoskeletal-System | MSK | [
"The fingers were pointed giving clawed appearance"
] |
test-911 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Eyes-Ears-Nose-Throat | EENT | [
"edentulous area between teeth 44 and 33 and 11, 21 and 22 were also missing. Edentulous maxillary and mandibular ridges were covered with normal mucosa. The teeth present were 12, 13,14,15,16,22, 24, 25, 26, 33, 34, 35, 36, 44, 45 and 46 covered with soft deposits and band of subgingival calculus. Gingiva was fier... |
test-912 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Dermatology | DERM | [
"well - demarcated, yellowish, keratotic plaques over the skin of palms and soles extending on to the dorsal surfaces. Skin of both palms and soles was peeling off leaving underlying red shiny area suggestive of keratoderma. Well circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbo... |
test-913 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Pregnancy | Pregnancy | [] |
test-914 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Lymphatic-System | LYMPH | [] |
test-915 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Age-at-Presentation | Age (at case presentation) | [
"14 - year - old"
] |
test-916 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Age-of-Onset | Age (of onset) | [
"2 years"
] |
test-917 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
test-918 | 3917216 | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | {'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve... | IEM-Treatment | IEM_Treatment | [] |
test-919 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Vitals-and-Hematology | Vitals_Hema | [
"normal head circumference for his age"
] |
test-920 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Gastrointestinal-System | GI | [] |
test-921 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Patient-History | History | [
"A 4 - year - male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy."
] |
test-922 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Neurology | Neuro | [
"delayed development",
"child attained head holding at 6 months, sitting without support at 1 year age and walking with support at 2 years. Stiffness in lower limbs started in later part of the first year of life with progressive increase up to the time of presentation",
"mental retardation, increased tone in b... |
test-923 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Laboratory-and-Imaging | Lab_Image | [
"Chest radiograph and all routine hematological investigations were normal.",
"The MRI showed diffuse and symmetrical high signal intensity on T2W sequence in bilateral deep periventricular white matter in the frontal and parietal lobes and in the corona radiata. These areas were hypointense on T1W sequence. Subc... |
test-924 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Cardiovascular-System | CVS | [] |
test-925 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Endocrinology | ENDO | [] |
test-926 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Genitourinary-System | GU | [] |
test-927 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Respiratory-System | RESP | [] |
test-928 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Musculoskeletal-System | MSK | [
"Skeletal, dental, eye/ fundus examination and eye or limb movements were normal"
] |
test-929 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Eyes-Ears-Nose-Throat | EENT | [
"dental, eye/ fundus examination and eye or limb movements were normal"
] |
test-930 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Dermatology | DERM | [
"skin ailment",
"scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face"
] |
test-931 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Pregnancy | Pregnancy | [
"His birth was at full - term from an uneventful pregnancy."
] |
test-932 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Lymphatic-System | LYMPH | [] |
test-933 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Age-at-Presentation | Age (at case presentation) | [
"4 - year - male"
] |
test-934 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Age-of-Onset | Age (of onset) | [
"since infancy"
] |
test-935 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Sjogren - Larsson syndrome"
] |
test-936 | 3481798 | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | {'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho... | IEM-Treatment | IEM_Treatment | [] |
test-937 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Vitals-and-Hematology | Vitals_Hema | [
"mild anemia ( Hb 8.0 g / dl, reticulocyte count 7 % of circulating erythrocytes )",
"reddish colored urine.",
"red - colored urine",
"mild anemia."
] |
test-938 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Gastrointestinal-System | GI | [] |
test-939 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Patient-History | History | [
"A 13 - year - old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem in ... |
test-940 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Neurology | Neuro | [
"no history of acute neurological attacks",
"mental and physical development had been normal."
] |
test-941 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Laboratory-and-Imaging | Lab_Image | [
"Histopathological examination of an intact bulla revealed the subepidermal location of the blister",
"Routine investigations, including liver and renal function tests, were within normal limits except for mild anemia ( Hb 8.0 g / dl, reticulocyte count 7 % of circulating erythrocytes ). ELISA for HIV was negativ... |
test-942 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Cardiovascular-System | CVS | [] |
test-943 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Endocrinology | ENDO | [] |
test-944 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Genitourinary-System | GU | [
"reddish colored urine.",
"red - colored urine"
] |
test-945 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Respiratory-System | RESP | [] |
test-946 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Musculoskeletal-System | MSK | [] |
test-947 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Eyes-Ears-Nose-Throat | EENT | [
"erythrodontia was not spotted with the naked eyes, the teeth revealed a pink - red fluorescence under Wood 's lamp",
"teeth were of coppery - red color",
"erythrodontia"
] |
test-948 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Dermatology | DERM | [
"photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring.",
"severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformit... |
test-949 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Pregnancy | Pregnancy | [] |
test-950 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Lymphatic-System | LYMPH | [] |
test-951 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Age-at-Presentation | Age (at case presentation) | [
"13 - year - old",
"3 - year - old"
] |
test-952 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Age-of-Onset | Age (of onset) | [
"4–5 years",
"around 6 months"
] |
test-953 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"A diagnosis of CEP was made ."
] |
test-954 | 3088948 | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | {'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ... | IEM-Treatment | IEM_Treatment | [] |
test-955 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Vitals-and-Hematology | Vitals_Hema | [
"Her heart rate was 120 / min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator."
] |
test-956 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Gastrointestinal-System | GI | [
"chronic intermittent abdominal pain, vomiting, and anorexia for three months"
] |
test-957 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Patient-History | History | [
"A 17 - year - old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weakness with r... |
test-958 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Neurology | Neuro | [
"history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weakness",
"conscious ( E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent",
"electroencephalography were normal.",
"Cerebrospinal fl... |
test-959 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Laboratory-and-Imaging | Lab_Image | [
"Routine baseline workups including hemogram, blood sugars, liver and kidney function, chest X - ray, electrocardiography, electroencephalography were normal",
"Cerebrospinal fluid analysis was normal. Urine Watson – Schwartz test was positive for porphobilinogen. Electrolyte screening showed mild hyponatremia ( ... |
test-960 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Cardiovascular-System | CVS | [
"postural hypotension, tachycardia, and sweating",
"electrocardiography, electroencephalography were normal",
"ST segment elevation was noticed on the cardiac monitor and 12 lead ECG was ordered which showed ST segment elevation in lead II. Cardiac enzyme markers were not elevated. Transthoracic echocardiograph... |
test-961 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Endocrinology | ENDO | [] |
test-962 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Genitourinary-System | GU | [] |
test-963 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Respiratory-System | RESP | [
"respiratory distress"
] |
test-964 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Musculoskeletal-System | MSK | [] |
test-965 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Eyes-Ears-Nose-Throat | EENT | [] |
test-966 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Dermatology | DERM | [] |
test-967 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Pregnancy | Pregnancy | [] |
test-968 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Lymphatic-System | LYMPH | [] |
test-969 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Age-at-Presentation | Age (at case presentation) | [
"17 - year - old"
] |
test-970 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Age-of-Onset | Age (of onset) | [] |
test-971 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AIP"
] |
test-972 | 3180982 | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | {'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes... | IEM-Treatment | IEM_Treatment | [
"heme arginate ( 3 mg / kg / day for 4 days )"
] |
test-973 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Vitals-and-Hematology | Vitals_Hema | [
"body weight had decreased ( 3,045 g )"
] |
test-974 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Gastrointestinal-System | GI | [] |
test-975 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Patient-History | History | [
"The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and was referred to o... |
test-976 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Neurology | Neuro | [] |
test-977 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Laboratory-and-Imaging | Lab_Image | [
"electrolytes were within normal ranges. Endocrinological examination showed a markedly high plasma adrenocorticotropin stimulating hormone ( ACTH ) level ( 3,341 pg / ml ). The serum 17 - hydroxyprogesterone level was normal. On ultrasonography, bilateral adrenal glands were slightly enlarged ( right 1.4 × 1.9 cm,... |
test-978 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Cardiovascular-System | CVS | [] |
test-979 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Endocrinology | ENDO | [
"normal female external genitalia with no ambiguity"
] |
test-980 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Genitourinary-System | GU | [
"normal female external genitalia with no ambiguity"
] |
test-981 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Respiratory-System | RESP | [] |
test-982 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Musculoskeletal-System | MSK | [] |
test-983 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Eyes-Ears-Nose-Throat | EENT | [] |
test-984 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Dermatology | DERM | [
"hyperpigmentation",
"remarkable pigmentation"
] |
test-985 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Pregnancy | Pregnancy | [
"She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g."
] |
test-986 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Lymphatic-System | LYMPH | [] |
test-987 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Age-at-Presentation | Age (at case presentation) | [
"27 d of age"
] |
test-988 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Age-of-Onset | Age (of onset) | [
"14 d ,"
] |
test-989 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"She was diagnosed as having adrenal insufficiency caused by CLAH ."
] |
test-990 | 4004877 | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | {'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ... | IEM-Treatment | IEM_Treatment | [
"She was treated successfully with hydrocortisone and fludrocortisones"
] |
test-991 | 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 ... | Vitals-and-Hematology | Vitals_Hema | [] |
test-992 | 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 ... | Gastrointestinal-System | GI | [] |
test-993 | 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 ... | Patient-History | History | [
"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 episodes... |
test-994 | 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 ... | Neurology | Neuro | [
"developmental delay",
"no history of seizure",
"spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sittin... |
test-995 | 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 ... | Laboratory-and-Imaging | Lab_Image | [
"routine laboratory tests, and chromosomal study were also normal",
"Magnetic resonance imaging ( MRI ) demonstrated high - intensity lesions in the deep white matter around the trigons of lateral ventricles (",
"Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis c... |
test-996 | 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 ... | Cardiovascular-System | CVS | [] |
test-997 | 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 ... | Endocrinology | ENDO | [] |
test-998 | 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 ... | Genitourinary-System | GU | [] |
test-999 | 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 ... | Respiratory-System | RESP | [
"mild intermittent asthma, and 2 episodes of pneumonia"
] |
test-1000 | 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 ... | Musculoskeletal-System | MSK | [] |
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