[Niemann-Pick disease, type A: a case report]

Niemann-Pick disease (NPD) type A is a rapidly developing metabolic illness, with autosomal recessive mode of inheritance. A deficiency of the lysosomal enzyme--acid sphingomyelinase (ASM) produces the clinical phenotype with multiple organ involvement including the central nervous system. Type A NPD is characterized by failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative course that leads to death by the age of 2-3 years. The authors report a 3-year-old boy with fatal course of the disease.