A case of Niemann-Pieck storage disease in a 4 month old baby

Abstract

Niemann-Pick storage disease is rare. The disease is based on excessive accumulation of sphingomyelin as a result of a defect in the enzyme sphingomyelinase, which is transmitted in an autosomal recessive manner. In the affected organs, an increase in the content of total lipids is found, especially sphingomyelin, as well as other phospholipids and cholesterol.