title: Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.
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. 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.
authors.affiliation: Division of Neurology, Childrens Hospital Los Angeles, and Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA. trosser@chla.usc.edu
authors.forename: Tena
authors.initials: T
authors.lastname: Rosser
authors.forename: Jason
authors.initials: J
authors.lastname: Muir
authors.forename: Ashok
authors.initials: A
authors.lastname: Panigrahy
authors.forename: Erin E
authors.initials: EE
authors.lastname: Baldwin
authors.forename: Richard G
authors.initials: RG
authors.lastname: Boles
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000378:metabolism / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D017630:Connexins / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D009836:Oligodendroglia / Q000378:metabolism / Q000473:pathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein