CMT/HMSN X1: X-linked hereditary motor sensory neuropathy (type 1) presenting wi

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Dev Med Child Neurol. 2010 May 14

X-linked hereditary motor sensory neuropathy (type 1) presenting with a

stroke-like episode.

Anand G, Maheshwari N, D, Padeniya A, Hamilton-Ayers M, VAN DER Knaap M,

Fratter C, Jayawant S.

Oxford Radcliffe NHS Trust, Paediatric Neurology, Oxford, UK.

Abstract

X-linked hereditary motor sensory neuropathy type 1 (CMTX 1) is caused by

mutation in the GJB1 gene that codes for the connexin 32 protein. Central

nervous system involvement with or without white matter changes on magnetic

resonance imaging (MRI) has rarely been reported in this condition.

We report the case of a 7-year-old, previously well male who presented with a

stroke-like episode that manifested as left hemiparesis and dysphasia. An

initial brain MRI showed white matter signal changes affecting the corpus

callosum and periventricular areas with a posterior predominance.

Our patient made a complete clinical recovery in 36 hours. Clinical examination

at this stage showed no evidence of a peripheral neuropathy.

A repeat brain MRI 6 weeks later showed almost complete resolution of the

changes seen initially. Subsequent investigations showed a Val177Ala mutation in

the GJB1 gene. This mutation has so far not been described in the Caucasian

population and has been only described once before.

Electrophysiological studies showed a mixed demyelinating and axonal

sensorimotor neuropathy in keeping with CMTX 1. Five months after the initial

presentation our patient developed clinical evidence of a peripheral neuropathy

in the form of absent ankle reflexes, weak dorsiflexors, and evertors in the

form of absent ankle reflexes, weak dorsiflexors, and evertors of both feet.