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1389/10/10، جلد ۲۰، شماره ۴، صفحات -
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Coincidence of Niemann-Pick Disease and beta-Thalassemia; a Case Report |
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| چکیده انگلیسی مقاله |
Background: Niemann-Pick disease and ?-thalassemia are distinct conditions with specific clinical and morphological manifestations. ?-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country. Case Presentation:This 5-month old girl, a known case of ?-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease. Conclusion: This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety. |
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| کلیدواژه‌های انگلیسی مقاله |
Niemann-Pick disease, Beta-Thalassemia, Liver enzyme, Lipidosis, Hemolytic anemia |
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| نویسندگان مقاله |
9845---9846---9847---9848--- |
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| نشانی اینترنتی |
http://ijp.tums.ac.ir/index.php/ijp/article/viewArticle/1016 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Original Article |
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