[Niemann pick type A, a case report]

ABSTRACT

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