Myoclonic seizures in a patient with Charcot-Marie-tooth disease

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.