clinical features

Last reviewed 01/2018

Clinical features are as follows:

  • developmental delay is first noticed before age 5
  • hyperactivity and irritability may be noted earlier
  • deterioration at around the age of ten, with the development of:
    • focal neurological signs
    • unsteady gait and inability to walk
    • mental retardation
    • stiff joints
    • herniae
    • hepatosplenomegally