clinical features

Last reviewed 01/2018

Features include:

  • mental retardation
  • altered lacrimation - this may predispose to corneal abrasion
  • hyperhidrosis
  • self-mutilation with apparent insensitivity to pain
  • recurrent hypoglycaemia
  • episodic hypertension
  • hyperpyrexia
  • vomiting
  • epilepsy