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2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"5 months",
"3 months old ."
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Age-of-Onset
|
Age (of onset)
|
[
"at birth"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"with"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Gastrointestinal-System
|
GI
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Patient-History
|
History
|
[
"XY2 is a boy of seven years of age with X - linked hypophosphatemia",
"He inherited this genetic disorder from his mother, who in turn inherited it from her father",
"XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth.",
"XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X - linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI - R was conducted with the parents and an ADOS - G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC - III test. XY1 is of normal intelligence ( total IQ : 107, verbal IQ : 106, performance IQ : 107 ). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism '"
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Neurology
|
Neuro
|
[
"suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag.",
"intellectually gifted ( WISC - III Full Scale IQ : 135, Verbal IQ : 136, Performance IQ : 133 )",
"DSM - IV - diagnosis of AD, confirmed by the ADI - R ( autism diagnostic interview - revised ) of the parents and the ADOS - G ( autism diagnostic observation schedule )"
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G > A(G579R ) missense mutation in exon 17 of the PHEX gene in all subjects"
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Cardiovascular-System
|
CVS
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Endocrinology
|
ENDO
|
[
"lack of growth."
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Genitourinary-System
|
GU
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Respiratory-System
|
RESP
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Musculoskeletal-System
|
MSK
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Dermatology
|
DERM
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Pregnancy
|
Pregnancy
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Lymphatic-System
|
LYMPH
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"seven years of age"
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"X - linked hypophosphatemia"
] |
2927793
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G>A(G579R) missense mutation in exon 17 of the PHEX gene in all subjects. XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag. Owing to hypophosphatemia, there has been a lack of growth. XY2 is intellectually gifted (WISC-III Full Scale IQ: 135, Verbal IQ: 136, Performance IQ: 133) Psychiatric examination demonstrated a DSM-IV-diagnosis of AD, confirmed by the ADI-R (autism diagnostic interview - revised) of the parents and the ADOS-G (autism diagnostic observation schedule). XY2 is the middle of the three sons in a family. Both XY1 and XY2 have been diagnosed with X-linked hypophosphatemia. Using chorionic villus sampling, the disorder has been ruled out in the youngest son, XY3. After XY2 was diagnosed as suffering from AD, the parents requested to test XY1 also. They were also concerned about his development and desired further clarity. An extensive psychiatric analysis was conducted and for XY1 an ADI-R was conducted with the parents and an ADOS-G for XY1. Both these tests gave values just below the autism threshold. His intelligence was determined using a WISC-III test. XY1 is of normal intelligence (total IQ: 107, verbal IQ: 106, performance IQ: 107). In the familial anamnesis, no past history of ASD was reported. In addition, the parents, grandparents, and siblings of the parents were asked to complete a questionnaire for the calculation of autism quotient. This questionnaire has been developed to measure the degree to which an adult with normal intelligence has autistic traits. Everyone took scores ranging from below average to high average; only the paternal grandfather took a high score, which often corresponds to the score of people with autism'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm",
"Arterial oxygen saturation ( SpO 2 ) was 94 %.",
"The heart rate was 146 / min. The respiratory rate was 26 / min. Non - invasive blood pressure was 73/44 ( 54 ) mm Hg."
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Gastrointestinal-System
|
GI
|
[
"no history of fever, rash, abdominal pain, constipation",
"Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt",
"and liver function were within the reference range."
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Patient-History
|
History
|
[
"Our case was a 1 - year 5 - month - old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath - holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium",
"The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby ’s parents were consanguineous cousins. The father ’s thalassemia status could not be elicited.",
"Parents ’ urine was negative for HA"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Neurology
|
Neuro
|
[
"no history of fever, rash, abdominal pain, constipation or alteration of sensorium.",
"conscious and alert",
"Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal.",
"No abnormalities were detected on the electroencephalogram"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g / dl ( normal 10.5 - 14 g / dl ), packed cell volume, mean corpuscular volume ( MCV ) and mean corpuscular hemoglobin were low at 31.9 % ( normal 32 - 42 % ), 68 fl ( normal 72 - 88 fl ), and 21.8 pg ( normal 24 - 30 pg ), respectively. MCV concentration was 32 % ( normal 31.5 - 34.5 % ) and red cell distribution width 17.1 % ( normal 11 - 16 % ). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high - pressure liquid chromatography ( HPLC ) revealed Hb A0 to be 80.4 % and Hb A2 to be 6.1 % ( normal 2.40 - 3.60 ). The HPLC picture on correlation with the complete hemogram suggested β - thalassemia trait. DNA studies confirmed the beta globin gene defect of β - thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child ’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ - amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine",
"Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict ’s reagent, strong alkali ( filter paper impregnated with 10 % sodium hydroxide turned black within 5 min when dipped into the urine ) and ferric chloride ( addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color ).",
"Benedict ’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test ( with multistix ) was negative excluding the role of glucose as reducing substance.",
"A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg / dl ( normally HA is not present in urine )"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Cardiovascular-System
|
CVS
|
[
"Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs.",
"cardiovascular systems were normal."
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Endocrinology
|
ENDO
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Genitourinary-System
|
GU
|
[
"reddish discoloration of the nappies and clothes",
"no abnormal odor of the skin or urine.",
"no history of crying while passing urine, poor urinary stream",
"Urine was of normal color when voided but turned black over variable periods spontaneously"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Respiratory-System
|
RESP
|
[
"breath - holding spells.",
"normal chest movements with equal air entry on both sides"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Musculoskeletal-System
|
MSK
|
[
"musculoskeletal system, skin, and cardiovascular systems were normal"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Dermatology
|
DERM
|
[
"no abnormal odor of the skin",
"no history of fever, rash,",
"no jaundice or dehydration or abnormal odor",
"skin, and cardiovascular systems were normal."
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Pregnancy
|
Pregnancy
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"1 - year 5 - month - old"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"alkaptonuric"
] |
3758736
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membrane. There was no history of fever, rash, abdominal pain, constipation or alteration of sensorium. The mother of the baby was a known case of thalassemia trait; however, had never received transfusion. The baby’s parents were consanguineous cousins. The father’s thalassemia status could not be elicited. On examination, the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm and the baby was conscious and alert. There was no jaundice or dehydration or abnormal odor. Arterial oxygen saturation (SpO 2 ) was 94%. The capillary refill time was between 3 s and 4 s. The heart rate was 146/min. The respiratory rate was 26/min. Non-invasive blood pressure was 73/44 (54) mm Hg. Respiratory system examination revealed normal chest movements with equal air entry on both sides. Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt. Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs. Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal. The eyes, musculoskeletal system, skin, and cardiovascular systems were normal. The baby was admitted for observation and investigations, and the initial differential diagnosis included alkaptonuria, myoglobinuria, hemoglobinuria, porphyria, and hemochromatosis. He had an under-current viral illness, which was managed symptomatically. The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g/dl (normal 10.5-14 g/dl), packed cell volume, mean corpuscular volume (MCV) and mean corpuscular hemoglobin were low at 31.9% (normal 32-42%), 68 fl (normal 72-88 fl), and 21.8 pg (normal 24-30 pg), respectively. MCV concentration was 32% (normal 31.5-34.5%) and red cell distribution width 17.1% (normal 11-16%). Serum iron, total iron binding capacity, and ferritin levels were within the reference range. Hemoglobin analysis by cation exchange high-pressure liquid chromatography (HPLC) revealed Hb A0 to be 80.4% and Hb A2 to be 6.1% (normal 2.40-3.60). The HPLC picture on correlation with the complete hemogram suggested β-thalassemia trait. DNA studies confirmed the beta globin gene defect of β-thalassemia. The serum electrolytes and serum bicarbonate were normal. The renal function and liver function were within the reference range. The child’s urine porphyrin, estimations were within normal levels, and serum lead levels and δ-amino levulinic acid were not tested. Myoglobin and hemoglobin levels were undetected in urine. No abnormalities were detected on the electroencephalogram, leading us to believe that the breath holding spells were due to anemia. Urine was of normal color when voided but turned black over variable periods spontaneously; furthermore, turned black with Benedict’s reagent, strong alkali (filter paper impregnated with 10% sodium hydroxide turned black within 5 min when dipped into the urine) and ferric chloride (addition of dilute ferric chloride solution drop by drop showed an evanescent violet blue color). The urine of an alkaptonuric individual usually appears normal when passed. However, it starts to darken upon standing, and this is caused by oxidation and polymerization of the homogentisic acid, and it is enhanced with an alkaline pH. Benedict’s test was strongly positive with red brown precipitate at the bottom and black colored supernatant. Glucose oxidase test (with multistix) was negative excluding the role of glucose as reducing substance. For the qualitative assay of HA, to 0.5 ml of sample, a few drops of 10% ammonia was added followed by the addition of 3% silver nitrate solution. A greenish black color developed, signifying the presence of a substantial amount of HA. Quantitative examination of urine by tandem mass spectrometry revealed that concentration of HA in urine was 91 mg/dl (normally HA is not present in urine). Parents’ urine was negative for HA. Due to the financial constraints, confirmatory diagnosis by DNA mutation analysis could not be carried out. The child was treated symptomatically, and he was given vitamin C (50 mg once a day for 3 months), low phenylalanine and tyrosine diet, and advised to monitor counts, get liver and renal function tests carried out every 2 weeks. On the request of his parents, the child was discharged after 3 days and advised to follow-up in the outpatient department (OPD). After 3 months post-therapy, his HA levels had not reduced. Currently, the baby is under follow-up every 6 months in the OPD.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"low phenylalanine and tyrosine diet ,"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"thrombocytopenia ( platelets 10.3 × 10 4 / μl )"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Gastrointestinal-System
|
GI
|
[
"sudden rectal hemorrhage",
"no previous significant rectal bleeding.",
"abdomen was soft and flat; a non - tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin",
"extremely enlarged liver and spleen."
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Patient-History
|
History
|
[
"A 21 - year - old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009",
"no previous significant rectal bleeding.",
"His past medical history was unremarkable except for occasional nasal bleeding during childhood"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Neurology
|
Neuro
|
[
"Neurologic examination revealed no evidence of abnormalities"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"thrombocytopenia and slight leukocytopenia ( platelets 6.7 × 10 4 /μl, white blood cells 3,180 / μl ). Other laboratory findings disclosed : total bilirubin 1.4 mg / dl ( reference range 0.2–1.3 ), direct bilirubin 0.5 mg / dl ( reference range 0–0.3 ), and prothrombin time activity 77.0 % ( reference range 90–130 ). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein - Barr virus and Helicobacter pylori; however, there were no remarkable findings. Anti - DNA antibody test showed a titer of 1:40 ( reference range < 1:40 ). His platelet - associated immunoglobulin G ( PAIgG ) level was elevated to 166 ng/10 7 cells ( reference range 9.0–25.0 ), however anti - platelet antibody ( anti - platelet - binding IgG ) was negative. Enhanced computed tomography ( CT ) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed ( fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson 's capsule ( fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin - converting enzyme ( ACE ) concentrations ( table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β - glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol / h / mg ( reference range 56.76–74.85 ). We analyzed the seven common mutations ( N370S, 84GG, F213I, IVS2 + 1, L444P, R463C and D409H ) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P / D409H.",
"Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down ( liver : from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen : from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm ). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU / μl, respectively ( fig. 3 ). \" }"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Cardiovascular-System
|
CVS
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Endocrinology
|
ENDO
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Genitourinary-System
|
GU
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Respiratory-System
|
RESP
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Musculoskeletal-System
|
MSK
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Dermatology
|
DERM
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
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Pregnancy
|
Pregnancy
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
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Lymphatic-System
|
LYMPH
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
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Age-at-Presentation
|
Age (at case presentation)
|
[
"21 - year - old"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
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Age-of-Onset
|
Age (of onset)
|
[] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Gaucher disease type 1"
] |
3764967
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation revealed thrombocytopenia (platelets 10.3 × 10 4 / μl). Although the hemorrhage stopped spontaneously and did not occur again, the patient was referred to our hospital for further examinations. He had had no previous significant rectal bleeding. His past medical history was unremarkable except for occasional nasal bleeding during childhood. On physical examination, the abdomen was soft and flat; a non-tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin. Neurologic examination revealed no evidence of abnormalities. The laboratory data are summarized in table 1 . There were thrombocytopenia and slight leukocytopenia (platelets 6.7 × 10 4 /μl, white blood cells 3,180/μl). Other laboratory findings disclosed: total bilirubin 1.4 mg/dl (reference range 0.2–1.3), direct bilirubin 0.5 mg/dl (reference range 0–0.3), and prothrombin time activity 77.0% (reference range 90–130). To find out the cause of thrombocytopenia and leukocytopenia, we performed serology tests for infection with hepatitis B virus, hepatitis C virus, Epstein-Barr virus and Helicobacter pylori ; however, there were no remarkable findings. Anti-DNA antibody test showed a titer of 1:40 (reference range <1:40). His platelet-associated immunoglobulin G (PAIgG) level was elevated to 166 ng/10 7 cells (reference range 9.0–25.0), however anti-platelet antibody (anti-platelet-binding IgG) was negative. Enhanced computed tomography (CT) showed the extremely enlarged liver and spleen. The splenic and the superior mesenteric vein were dilated and tortuous, whereas no apparent cirrhotic change of the liver was observed (fig. 1a ). For further examination, especially for the differential diagnosis of idiopathic portal hypertension, we performed a liver biopsy. The liver biopsy specimen showed that numerous large cells with striated cytoplasm assembled in Glisson's capsule (fig. 2 ). The cells had abundant eosinophilic cytoplasm with a striated or fibrillar appearance like that of crumpled tissue paper, which is typical of Gaucher cells. There was fibrous expansion of most portal tract areas, but bridging fibrosis was not seen. Additional blood investigations revealed high values of acid phosphatase and angiotensin-converting enzyme (ACE) concentrations (table 1 ), which is compatible with Gaucher disease. The enzymatic activity of leukocyte β-glucosidase, the measurement of which is necessary for the definitive diagnosis of Gaucher disease, had decreased to 11.67 nmol/h/mg (reference range 56.76–74.85). We analyzed the seven common mutations (N370S, 84GG, F213I, IVS2+1, L444P, R463C and D409H) in the GBA gene as previously reported with the informed consent of the patient and found the compound heterozygous mutations L444P/D409H. Based on these results, we diagnosed the patient with Gaucher disease type 1. We started enzyme replacement therapy (ERT). 60 U/kg body weight imiglucerase, a macrophage-targeted recombinant human glucocerebrosidase, was injected every 2 weeks. Figure 1b shows the CT scan 5 months after ERT started. The liver and the spleen were sized down (liver: from 23.3 × 15.4 × 20.3 cm to 22.1 × 15.3 × 17.9 cm; spleen: from 12.8 × 10.5 × 21.1 cm to 11.8 × 9.4 × 17.3 cm). Platelet counts number and ACE concentration, a biomarker of the progress of Gaucher disease, were also improved from 7.4 to 11.3 × 10 4 /μl and from 42.5 to 24.7 IU/μl, respectively (fig. 3 )."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"enzyme replacement therapy ( ERT ) . 60 U / kg body weight imiglucerase , a macrophage - targeted recombinant human glucocerebrosidase , was injected every 2 weeks"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"length measured 50 cm ( < 5 th percentile ), weight 3000 g ( < 5 th percentile ), and head circumference 36.5 cm ( 5–10 th percentile ). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Gastrointestinal-System
|
GI
|
[
"cholestasis and severe intractable vomiting",
"jaundice and vomiting",
"recurrent vomiting, poor feeding and cholestasis",
"with recurrent vomiting and poor intake which led to poor weight gain.",
"Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission",
"jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Patient-History
|
History
|
[
"45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances",
"A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis.",
"Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission.",
"No similar presentation or family history of other features of liver or edocrine disease was reported"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Neurology
|
Neuro
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Sepsis workups including blood culture and urine culture were performed, which later results showed both negative",
"tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative",
"serum sodium 102 meq / lit and serum k + level 9 meq / lit. Total and direct bilirubin was 13.9 mg / dl and 5.4 mg / dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference",
"Buccal smear was negative for bar body",
"Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis",
"chromosome study showed 46XY pattern",
"Electrolyte abnormalities and blood sugar was corrected during first week of treatment ( Na=130 and K=4.5 Meq / lit ). One week later, the total and direct bilirubin declined to 5 and 2.5 mg / dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Cardiovascular-System
|
CVS
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Endocrinology
|
ENDO
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Genitourinary-System
|
GU
|
[
"electrolyte disturbances",
"Hyponatremia and hyperkalemia",
"with female appearing genitalia",
"External genitalia seemed normal female type",
"serum sodium 102 meq / lit and serum k + level 9 meq / lit.",
"Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis.",
"Electrolyte abnormalities and blood sugar was corrected during first week of treatment ( Na=130 and K=4.5 Meq / lit )."
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Respiratory-System
|
RESP
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Musculoskeletal-System
|
MSK
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"sclerae and skin were obviously jaundiced",
"Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Dermatology
|
DERM
|
[
"pallor and decreased subcutaneous fat and ill appearance with severe dehydration",
"skin were obviously jaundiced"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Pregnancy
|
Pregnancy
|
[
"It was a product of consanguineous parents with birth weight of 3300 grams"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Lymphatic-System
|
LYMPH
|
[] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"45 days old"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Age-of-Onset
|
Age (of onset)
|
[
"third day of life"
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"congenital adrenal hyperplasia ."
] |
3446141
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis. It was a product of consanguineous parents with birth weight of 3300 grams. Problems started from third day of life with recurrent vomiting and poor intake which led to poor weight gain. Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days before admission. No similar presentation or family history of other features of liver or edocrine disease was reported. On Physical examination length measured 50 cm (<5 th percentile), weight 3000 g (<5 th percentile), and head circumference 36.5 cm (5–10 th percentile). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission. She had pallor and decreased subcutaneous fat and ill appearance with severe dehydration. Patient's sclerae and skin were obviously jaundiced. External genitalia seemed normal female type. The patient was admitted to PICU and blood drawn for necessary laboratory tests. Initial resuscitation including; rehydration therapy and correction of blood glucose and electrolyte abnormalities started. Broad spectrum antibiotic also was administered due to patient's ill appearance. Sepsis workups including blood culture and urine culture were performed, which later results showed both negative. Cosidering cholestasis presentation, other investigation including tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all in normal range but serum alpha1 antitrypsin concentration was mildly increased. The markers for hepatitis and TORCH infections were also negative. The laboratory tests were as follows: serum sodium 102 meq/lit and serum k + level 9 meq/lit. Total and direct bilirubin was 13.9 mg/dl and 5.4 mg/dl retrospectively. Erythrocyte sedimentation rate was 7. Thyroid function test was normal and serum glucose level by either glucose oxidas or orthotoloidas method were lower than normal but with no significant difference. Other laboratory findings are shown in Table 1 . Buccal smear was negative for bar body. Abdominal sonography showed both adrenals hypertrophic but otherwise normal. Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detected in pelvis. Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive; chromosome study showed 46XY pattern. Severe electrolytes abnormalities guided us to possible diagnosis of CAH, and further evaluation including findings in Table 2 proved this diagnosis. Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement. Electrolyte abnormalities and blood sugar was corrected during first week of treatment (Na=130 and K=4.5 Meq/lit). One week later, the total and direct bilirubin declined to 5 and 2.5 mg/dl respectively. After one month, bilirubin levels and all of the liver function tests returned to normal, jaundice disappeared and acholic stools changed to normal pattern. In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed. On her most recent visit at the age of 15 months, the patient had no obvious problem. Her height was 75 cm (25 th percentile), weight 9.5 kg (10–25 th percentile) and head circumference 46 cm (25 th percentile); her neurodevelopment was appropriate for age."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting",
"Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement . Electrolyte abnormalities and blood sugar was corrected during first week of treatment ( Na=130 and K=4.5 Meq / lit ) . One week later , the total and direct bilirubin declined to 5 and 2.5 mg / dl respectively . After one month , bilirubin levels and all of the liver function tests returned to normal , jaundice disappeared and acholic stools changed to normal pattern . In the following 6 months no history of acholic stool or hypoglycemic attacks were noticed . On her most recent visit at the age of 15 months , the patient had no obvious problem ."
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"pulse rate was 102 / min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25 / min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Gastrointestinal-System
|
GI
|
[
"no hepatosplenomegaly"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Patient-History
|
History
|
[
"An eleven month old female child, born of a primigravida mother of non - consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal.",
"There was no similar illness in the family"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Neurology
|
Neuro
|
[
"developmental history were normal.",
"Neurological examination was normal.",
"without neurological involvement",
"Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Complete blood count showed mild anemia; Hb-9.2 mg / dl, total leucocyte count-8,200 and platelet count of 1.4 lac / cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2 % of circulating erythrocytes ( normal upto 2 % ). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol / mmol of creatinine ( normal < 35 nmol / mmol ). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method ( normal value < 40 mcg/100 ml )."
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Cardiovascular-System
|
CVS
|
[] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Endocrinology
|
ENDO
|
[] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Genitourinary-System
|
GU
|
[
"red colored urine for last three months.",
"red colored urine",
"Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Respiratory-System
|
RESP
|
[] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Musculoskeletal-System
|
MSK
|
[
"without neurological involvement and evidence of arthritis"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Dermatology
|
DERM
|
[
"history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage",
"some pallor",
"Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia",
"infancy - onset blistering over sun - exposed areas, atrophic scars"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Pregnancy
|
Pregnancy
|
[
"born of a primigravida mother",
"Birth and developmental history were normal."
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Lymphatic-System
|
LYMPH
|
[] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"eleven month old"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Age-of-Onset
|
Age (of onset)
|
[
"since two months of age ."
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"of congenital erythropoietic porphyria"
] |
3778801
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family. Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP. Complete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Gastrointestinal-System
|
GI
|
[
"Spleen enlargement was also observed"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Patient-History
|
History
|
[
"We report on a 5 - year - old girl with a history of pink - stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red - brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation ( fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas.",
"Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation ( V3F ). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Neurology
|
Neuro
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Urine porphyrins were extremely elevated to 16 μmol / dl with a predominance of coproporphyrins and uroporphyrins",
"accumulation of porphyrins in the blood",
"A single missense mutation corresponding to a G - to - T transversion ( 11,776 g > t ) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine ( fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation",
"The specific activity of the mutated UROS was less than 16.1 % that of the control."
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Cardiovascular-System
|
CVS
|
[] |
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