Myoclonic Seizures in a Patient With Charcot-Marie-Tooth Disease.

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Pediatr Neurol. 2007 Feb;36(2):118-120.

Myoclonic Seizures in a Patient With Charcot-Marie-Tooth Disease.

Piantino JA, A.

Laboratories for Neuroscience Research in Neurosurgery, Children's

Hospital, Harvard Medical School. Boston, Massachusetts.

Charcot-Marie-Tooth disease affects both motor and sensory

peripheral nerves, with broad variability in its clinical and

pathologic expression. The involvement of the central nervous system

in this disease has been reported in the past, and on two occasions

Charcot-Marie-Tooth disease was associated with myoclonic seizures.

The previously reported patients with associated Charcot-Marie-Tooth

disease and seizures developed a severe disease and died at a young

age. This report describes a now 8-year-old male with Charcot-Marie-

Tooth disease type 1A associated with myoclonic seizures and

developmental delay. Genetic studies established for the first time

the duplication of the PMP-22 gene in a patient with this unusual

association, confirming the diagnosis.

The patient was treated with carbamazepine, valproate, and

lamotrigine, has been seizure-free for over 2 years, and was

successfully weaned from his medications.