Gaucher disease

• autosomal recessive
• abnormal accumulation of glucocerebroside
  • RE system: liver, spleen, lymph nodes
  • CNS neurons

• skeletal disorders
  • avascular necrosis
  • Erlenmeyer flask deformity
  • resorption of trabeculae
  • lytic/sclerotic changes

• hepatosplenomegaly

Cf: Niemann-Pick disease

© 2002, C.E. Kahn, Jr.
2002-04-18