Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
نویسندگان
چکیده
Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
منابع مشابه
بررسی یک مورد بیماری Niemann Pick تیپ A
Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a ...
متن کاملNiemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues. This disease is characterized with hepatosplenomegaly, fever and foam cell appearance in microscopic examination of bone marrow, liver and spleen. The case presented in this study is a four-month-old female infant with chief...
متن کاملPulmonary involvement in Niemann-Pick type B disease.
Bone marrow biopsy showed infiltration by numerous histiocytes. Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with the May-Grünwald-Giemsa stain (Figure 2). This histological pattern was indicative of Niemann-Pick disease. Confirmation of this diagnosis was obtained by lysosomal enzyme assay that showed undetectable sphingomyelina...
متن کاملFetal ascites: an unusual presentation of Niemann-Pick disease type C.
Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.
متن کاملNiemann-Pick disease type A presenting as unilateral tremors.
Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 49 6 شماره
صفحات -
تاریخ انتشار 2012