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 ...
