Niemann-Pick disease (Q52672)

Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase, encompassing two clinically distinct forms: type A and type B. Type A is characterised by an early onset, within the first year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological disorders and pulmonary infections lead to an early death, often around the age of 4. In type B ), onset occurs at any age (until adulthood) and the most constant sign is hepatosplenomegaly, which can be associated with pulmonary symptoms.