Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
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.
Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. sinead.murphy@uclh.nhs.uk
Sinéad M
SM
Murphy
Matilde
M
Laurá
Julian
J
Blake
James
J
Polke
Fion
F
Bremner
Mary M
MM
Reilly
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology*; D011680:Pupil / Q000502:physiology*; D013912:Threonine / Q000235:genetics
D018993:Myelin P0 Protein; D007532:Isoleucine; D013912:Threonine