Niemann-Pick type B as ultra-rare differential diagnosis in hepatomegaly, steatohepatitis, low HDL and increased plasma chitotriosidase activity: three case reports

Introduction Niemann-Pick type B (NPB) is a usually benign lysosomal storage disorder, based on autosomal-recessively inherited deficient acid sphingomyelinase (ASM) activity, leading to accumulation of sphingomyelin in lipid-laden macrophages, coined NPB cells. Olipudase (Sanofi-Genzyme) has been shown to improve visceral manifestations and is currently being licensed as enzyme replacement therapy (ERT) for ASM deficiency.