CMT X: Coexistent Central and Peripheral Nervous System Involvement

[Guest guest]

J Child Neurol. 2010 Apr 9

Coexistent Central and Peripheral Nervous System Involvement in a

Charcot-Marie-Tooth Syndrome X-linked Patient.

Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E.

Pediatric Neurology Unit, Arcispedale Santa Nuova, Reggio Emilia, Italy.

Abstract

A 14-year-old boy with an episode of acute weakness resembling acute

demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness

is described. Molecular analysis showed a mutation at codon 164 of the connexin

32 gene. Neuroradiological and neurophysiological follow-up is reported during

acute and chronic phases of disease, suggesting that during metabolic stress

connexin 32 mutations lead to a loss of normal cellular communication and

reversible cell dysfunction in oligodendrocytes and in Schwann cells. These data

confirm that altered gating properties of connexin 32 could give rise to acute,

transient central and peripheral nervous system symptoms in situations of

metabolic stress.