Clinical features
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
Related pages
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page