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stringlengths 6
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stringclasses 138
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stringclasses 138
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stringclasses 18
values | role-name
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listlengths 0
18
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|---|---|---|---|---|---|---|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 exfoliated gradually by the age of 4 - 5 years. Similarly, her permanent teeth were lost prematurely after erupting normally",
"periodontal flap surgery",
"There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas"
] |
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “ floating in air appearance, ” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen."
] |
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33",
"presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility",
"mobility in relation with some of her deciduous teeth and then early exfoliation of same",
"premature loss of deciduous and permanent teeth and mobility in remaining teeth",
"deciduous teeth had erupted normally, but exfoliated gradually by the age of 4 - 5 years",
"her permanent teeth were lost prematurely after erupting normally.",
"mobility and bleeding gum before 2 years"
] |
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails",
"dry scaly skin of palms and soles",
"well - demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present",
"fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3 - 4 years. She had exacerbation and remissions of the skin lesions since early childhood,"
] |
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
{'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 development of PLS periodontitis. Presence of numerous virulence factors such as leukotoxin, collagenase, endotoxin, epitheliotoxins and fibroblast-inhibiting factor, suggests that PLS is mediated bacteriologically and therefore could be treated to some improvement with antibiotics. The 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. Antibiotic therapy was associated with elimination of A. actinomycetemcomitans from the periodontal pockets and serum IgG titers against A. actinomycetemcomitans decreased in the patients.', 'Clinical examination': 'Extra-oral examination On extra-oral examination, patient presented with 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 elbows and knees bilaterally along with dystrophy and transverse grooving of the nails. The fingers were pointed giving clawed appearance. Intra-oral examination Intra-oral examination revealed 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 fiery red in color with inflammatory gingival enlargement Iva Ingle Classification grade II. Pathological migration was associated with 12, 14, 23, 24, 33 and 34. On assessment grade III mobility was present in relation with 14, grade II in relation with 24, 25, 33, 34, 36 and 44. Remaining teeth were present with grade I mobility. There was the presence of recession grade III in relation with 14 and 33. Extra-oral examination She complained about dry scaly skin of palms and soles like her sister, but she has not taken any dermatological treatment for that. On examination, well-demarcated keratotic plaques over the skin of her palms and soles, extending on to dorsal surfaces were present. Intra-oral examination She showed the presence of 16, 26, 31, 36, 46, 41 and 53 in the oral cavity. There is grade III recession and grade II mobility in 53. Remaining teeth revealed the presence of soft deposits and grade I mobility.', 'Case 2': 'Second patient was a 6-year-old sister of the above patient. She was asymptomatic before 2 years. Her father noticed mobility in relation with some of her deciduous teeth and then early exfoliation of same. Her elder sister had same complain, so he brought her also for a checkup and treatment at Government Dental College and Hospital, Ahmadabad.', 'Radiographic findings': 'Orthopantogram showed extensive alveolar bone loss in all remaining teeth. The alveolar bone around the mobile teeth was devoid of definable lamina dura. An extensive alveolar bone loss was noted, giving the teeth 31, 41 and 43 a “floating in air appearance,” which were extracted afterwards. Radiographically, right and left lateral oblique radiographs show angular bone loss and periodontal widening present in relation with 36 and 46. There are developing tooth germs of permanent tooth are also seen.', 'Immunological defects': 'CTSC is involved in a wide variety of immune and inflammatory responses. It plays an essential role in activating serine proteinases expressed in the granules of bone marrow derived cells from both the myeloid and lymphoid series. The serine proteinases are implicated in a variety of inflammatory and immune processes, including phagocytic destruction of bacteria and activation of phagocytic cells and T-lymphocytes. Therefore, deficiency of CTSC function will result in loss of immunological response, leading to liability of infection. Recently, impairment of natural killer (NK) cell cytotoxic function is the first consistent immune dysfunction reported in PLS. This suggests that the impaired NK cell cytotoxicity might contribute to the pathogenesis of PLS associated periodontitis. A defect that principally interferes in phagocytic function is likely to give rise to aggressive periodontitis of PLS since nearly identical features occur in other defects of phagocytic function. The loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.', 'Case 1': '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. She was the first child born to apparently healthy non-consanguineous parents. History revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-5 years. Similarly, her permanent teeth were lost prematurely after erupting normally. Patient was having complained of mobility and bleeding gum before 2 years, visited a periodontist and undergone treatment in the form of periodontal flap surgery. After one and half year, patient was having same complain and came to Government Dental College and Hospital, Ahmedabad. There was no family history of ichthyosis or hereditary or acquired palmoplanter keratodermas. The patient also gave a history of development of fissures, thickening and flaking in the skin of palms and soles that resulted in peeling off of skin leaving red thin area underneath since age of 3-4 years. She had exacerbation and remissions of the skin lesions since early childhood, visiting dermatologist regularly, but no improvement was seen. She repeatedly contracted systemic infections.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child",
"Electroencephalogram ( EEG ) was 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All"
] |
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal."
] |
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
{'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 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. Neurological examination revealed mental retardation, increased tone in both lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. Upper limbs did not show any tone or deep tendon reflex abnormalities. There was also evidence of conduction aphasia in the child. Skeletal, dental, eye/ fundus examination and eye or limb movements were normal. Child had a normal head circumference for his age. Skin examination showed scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face. Chest radiograph and all routine hematological investigations were normal. Electroencephalogram (EEG) was normal. Patient was sent for the MRI of brain. MRI was done on 0.2 tesla Signa (GE systems, USA) MRI with T2W, T1W, FLAIR sequences in all three planes. 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. Subcortical U fibers were normal. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. All these clinical and radiological findings were diagnostic of Sjogren-Larsson syndrome.'}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 the family. There was no history of acute neurological attacks",
"A 3 - year - old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child 's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks."
] |
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol / mmol of creatinine ( normal < 35 nmol / mmol ). Twenty - four - hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml ( reference value less than 40 μg/100 ml using the hematofluorometric method ).",
"Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen ( PBG )"
] |
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 deformities of the fingers",
"Hypertrichosis, pigmentation, and milia formation were also present on the face",
"Histopathological examination of an intact bulla revealed the subepidermal location of the blister",
"severe photosensitivity, blistering, and hypertrichosis",
"mutilation of the fingers",
"blisters on exposed areas",
"The blisters used to heal with scars.",
"face was badly scarred. There was hypertrichosis on the shoulders, arms, and face",
"a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities",
"blistering on the exposed areas since early infancy, healing with atrophic scarring"
] |
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
{'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 in the family. There was no history of acute neurological attacks. On examination, there were severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformities of the fingers. Hypertrichosis, pigmentation, and milia formation were also present on the face. Though erythrodontia was not spotted with the naked eyes, the teeth revealed a pink-red fluorescence under Wood's lamp. Histopathological examination of an intact bulla revealed the subepidermal location of the blister. A clinical diagnosis of cutaneous porphyria was made on the basis of the severe photosensitivity, blistering, and hypertrichosis. The early onset and the mutilation of the fingers were highly suggestive of CEP. The patient was investigated. 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 negative. PBG was normal in urine. On screening with a spectrophotometer, urinary total porphyrin was 1187 nmol/mmol of creatinine (normal <35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 124.3 μg/100 ml (reference value less than 40 μg/100 ml using the hematofluorometric method). A diagnosis of CEP was made.", 'Case 1': "A 3-year-old male child, born of consanguineous marriage, presented with blisters on exposed areas since the age of around 6 months. The blisters used to heal with scars. Since early infancy the mother had noticed reddish colored urine. The child's mental and physical development had been normal. There was no family history of a similar problem. There was no history of acute attacks. On examination, the child's face was badly scarred. There was hypertrichosis on the shoulders, arms, and face. The teeth were of coppery-red color. There were a few intact blisters and crusted lesions on the hands and feet. Atrophic scars were also present on the extremities. On the basis of the history of blistering on the exposed areas since early infancy, healing with atrophic scarring, erythrodontia, and red-colored urine, we made a clinical diagnosis of CEP. Routine investigations were within normal limits except for mild anemia. The urine did not show increased level of porphobilinogen (PBG). Further investigations were not carried out. The child was treated symptomatically."}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen"
] |
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 fluid analysis was normal.",
"Nerve conduction study showed axonal motor neuropathy"
] |
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 ( serum sodium 126 mmol / L ). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits.",
"Cardiac enzyme markers were not elevated. Transthoracic echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium ( 10.8 mg / dl ) and phosphorus levels ( 5 mg / dl ) were within normal limits. Tracheal tube aspirate for acid - fast bacilli was negative"
] |
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction"
] |
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
{'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 weakness with respiratory distress for one day. She had no history of snakebite, pain chest, poison intake, or blunt injury to neck or abdomen. She initially presented to a private nursing home where she was intubated and transferred to our hospital on portable ventilator. On examination she was conscious (E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent. Her heart rate was 120/min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator. Systemic examination was insignificant. She was transferred to intensive care unit with a diagnosis of acute inflammatory demyelinating polyneuropathy. She also had features suggestive of autonomic neuropathy in the form of postural hypotension, tachycardia, and sweating. 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 (serum sodium 126 mmol/L). Serum phosphates and serum potassium were within normal limits. Ultrasonography of abdomen was unremarkable and serum lead levels were within normal limits. Nerve conduction study showed axonal motor neuropathy. She was treated as a case of AIP with high dose of carbohydrate (300–400gm/day), heme arginate (3 mg/kg/day for 4 days) and gabapentin for seizures control. Precautions were taken not to prescribe any porphyrogenic drugs. At 60 th day of her ICU stay 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 echocardiography was done to rule out any cardiac pathology. It showed posterior pericardial calcification with anterior mitral leaflet and papillary muscle calcification and relaxation abnormality around mitral valve suggestive of early pericardial constriction. Serum calcium (10.8 mg/dl) and phosphorus levels (5 mg/dl) were within normal limits. Tracheal tube aspirate for acid-fast bacilli was negative for 3 days in continuation. Patient required prolonged ventilator support and was finally discharged with the advise to follow up.'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 our hospital at 27 d of age"
] |
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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, left 1.6 × 1.2 cm )",
"The patient had a one base insertion ( 246insG ) as a heterozygous state. Note overlapping signals after the insertion site. ( B-2 ) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient ’s karyotype was 46, XX"
] |
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
{'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 was referred to our hospital at 27 d of age. On physical examination she had remarkable pigmentation and normal female external genitalia with no ambiguity. Her body weight had decreased (3,045 g). The laboratory and endocrinological data are summarized in the Table 1 Table 1. Biochemical findings of the patient with CLAH . The 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, left 1.6 × 1.2 cm) ( Fig. 1A Fig. 1. A: Ultrasonography of adrenal glands. B: Sequence analysis of the patient 1. (B-1) The patient had a one base insertion (246insG) as a heterozygous state. Note overlapping signals after the insertion site. (B-2) An arrow indicates the C to T transition. This change substitutes cysteine for arginine at codon 182. ). The patient’s karyotype was 46, XX. She was diagnosed as having adrenal insufficiency caused by CLAH. She was treated successfully with hydrocortisone and fludrocortisones and has grown well.', 'Genetic analyses': 'Informed consent for DNA analysis was obtained from the patient’s parents. The ethical committee of our university permitted this study. To analyze the StAR gene, genomic DNA was obtained from white blood cells by standard procedures. The exons and exon-intron boundaries of the StAR gene were amplified by polymerase chain reaction (PCR) using oligonucleotide primers as described in a previous report ( 3 ). These PCR products were purified and directly sequenced using an automated DNA sequencer (Applied Biosystems, Inc., Foster City CA).'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 of pneumonia also were observed in his first year of life. He had no history of seizure"
] |
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 sitting without support at 5 and 12 months, respectively",
"Electroencephalography, 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"
] |
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon - specific primers revealed a c.370 - 372 ( GGA ) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state"
] |
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'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 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed 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 sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, 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 ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Musculoskeletal-System
|
MSK
|
[] |
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