Niemann-Pick disease type C2

Introduction

Subacute or juvenile form (type C).

Epidemiology

• 5% of Niemann-Pick disease type C
• may appear early in life or be delayed into the teen years

Pathology

• cholesterol esterification defect
• cholesterol accumulation in lysosomes
• sphingomyelinase deficiency not demonstrated.

Genetics

• associated with defects in NPC2 (HE1)

Clinical manifestations

• hepatosplenomegaly (moderate)
• brain damage may be extensive
• inability to look up & down
• ataxia
• dysphagia
• loss of vision
• hearing loss

Management

• low-cholesterol diet often recommended, but benefit limited
• prognosis is variable; some patients live into adulthood

More general terms

• Niemann-Pick disease type C

Additional terms

• epididymal secretory protein E1; human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein (NPC2, HE1)

Database

• OMIM: https://mirror.omim.org/entry/601015