clinical features
Last reviewed 01/2018
The neurological complications of the sphingolipidoses may become apparent early in childhood:
- hypotonia in the infant
- developmental delay
- ataxia
- poor school performance
- spasticity
Non-neurological features include:
- renal impairment in Fabry disease
- splenomegaly in non-neuronopathic Niemann-Pick
- hepatosplenomagaly in Gaucher disease