Niemann-Pick disease type B

info · Genetic · ICD-10: E75.2

A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.

Signs and symptoms

Splenomegaly
Hypertriglyceridemia
Decreased circulating HDL-C concentration
Hepatomegaly
Decreased DLCO
Thrombocytopenia
Elevated circulating LDL-C concentration
Short stature
Decreased acid sphingomyelinase activity
Foam cells with lamellar inclusion bodies