Volume 16, Issue 53 (August 2006)                   J Mazandaran Univ Med Sci 2006, 16(53): 112-118 | Back to browse issues page

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Niemann Pick type A, a case report
F Mojtahedzadeh , M Qasemi
Abstract:   (18153 Views)
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 case report of an infant with clinical manifestation of Niemann Pick disease type A.
Keywords: Metabolic disordcrs, sphingolipidoses, Niemann Pick A
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Type of Study: Research(Original) |
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