Conduction block and tonic pupils in CMT caused by a myelin protein zero mutatio

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Neuromuscular disorders Volume 21, Issue 3, Pages 223-226 (March 2011)

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a

myelin protein zero p.Ile112Thr mutation

Sinéad M. a, Matilde Lauráa, n Blakebc, Polked, Fion Bremnere,

M. Reillya

Abstract

We report a patient with Charcot-Marie-Tooth disease (CMT) due to the

p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy

neuropathy with conduction block and tonic pupils.

Conduction block is unusual in inherited neuropathies, while pupil abnormalities

are recognised to occur in CMT especially due to MPZ mutations.

This case highlights that patchy demyelinating neuropathy with conduction block

may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this

case, may be a pointer towards a genetic rather than inflammatory cause of

neuropathy.