CMT X: Central Nervous System Signs After Hyperventilation

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Pediatr Neurol. 2008 Apr;38(4):293-295.

Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease

After Hyperventilation.

Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, MM.

Children's Neurosciences Centre, Royal Children's Hospital, Melbourne,

Australia.

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.