CMT X: Transient Leukoencephalopathy Associated With

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J Child Neurol. 2010 May 14

Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth

Disease.

Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles RG.

Division of Neurology, Childrens Hospital Los Angeles, and Department of

Pediatrics, University of Southern California Keck School of Medicine, Los

Angeles, CA.

Abstract

X-linked hereditary demyelinating neuropathy (Charcot-Marie-Tooth 1X) accounts

for 10% to 20% of all hereditary demyelinating neuropathies and is caused by

mutations in the GJB1 gene, which codes for connexin 32. Connexin 32 is a gap

junction protein widely expressed in Schwann cells as well as oligodendrocytes.

Transient leukoencephalopathy has been reported in children and adults with

Charcot-Marie-Tooth 1X. T

The case of a previously healthy 10-year-old boy who presented with fluctuating

neurological deficits is reviewed. His brain magnetic resonance imaging scans

showed abnormal restricted diffusion and mild hyperintense T2-weighted and fluid

attenuation inversion recovery abnormalities in the splenium of the corpus

callosum and the posterior cerebral white matter in a bilaterally symmetric

distribution.

A family history of Charcot-Marie-Tooth disease was revealed late in his

presentation, and genetic testing identified a mutation in the GJB1 gene that

has not previously been associated with central nervous system involvement.