Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.

ABSTRACT:

Background

Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations. It is characterized by sphingomyelin accumulation and a broad clinical spectrum ranging from severe neurodegeneration in type A to a milder visceral phenotype in type B. Intermediate forms (type A/B) show overlapping features of both subtypes.

Case presentation

We report a 6-month-old boy with ASMD type A/B who first presented with meningoencephalitis and a single seizure most likely secondary to an intercurrent viral infection rather than a primary disease manifestation. Subsequent evaluation revealed multiple systemic red-flag features including marked hepatosplenomegaly, severe growth fail

SUBMITTER: El-Mezayen M 

PROVIDER: S-EPMC12597853 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature