1.
Journal of Mazandaran University of Medical Sciences. 2006; 16 (53): 112-118
in Persian
| IMEMR
| ID: emr-77902
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