Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation

The X-linked Charcot-Marie-Tooth disease is the second most common form of inherited neuropathy and, unlike most other forms of this disease, may present with atypical manifestations because of central nervous system involvement. Episodic central nervous system symptoms in X-linked Charcot-Marie-Tooth disease may be triggered by illness, dehydration, physical exercise, or exposure to altitude. We describe a child with transient episodes of hemiplegia after simple hyperventilation, a presentation not previously described in pediatric Charcot-Marie-Tooth disease type X.