Niemann-Pick disease type B

Introduction

Visceral form (type B).

Genetics

• associated with defects in SMPD1

Clinical manifestations

• hepatosplenomegaly, generally in the pre-teen years
• patients remain free of neurologic manifestations despite massive visceral involvement

Laboratory

• acid sphingomyelinase in leukocytes
• acid sphingomyelinase in dried blood spot

Management

• many require supplemental oxygen because of lung disease
• bone marrow transplantation may be helpful
• enzyme replacement & gene therapy may someday be helpful
• prognosis:
  • type B patients generally live into adulthood

More general terms

• Niemann-Pick disease

Database

• OMIM: https://mirror.omim.org/entry/257200