title: X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.
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 of both feet.
authors.affiliation: Paediatric Neurology, Oxford Radcliffe NHS Trust, Oxford, UK. anandgeetha97@gmail.com
authors.forename: Geetha
authors.initials: G
authors.lastname: Anand
authors.forename: Nitin
authors.initials: N
authors.lastname: Maheshwari
authors.forename: David
authors.initials: D
authors.lastname: Roberts
authors.forename: Anuruddha
authors.initials: A
authors.lastname: Padeniya
authors.forename: Michele
authors.initials: M
authors.lastname: Hamilton-Ayers
authors.forename: Marjo
authors.initials: M
authors.lastname: van der Knaap
authors.forename: Carl
authors.initials: C
authors.lastname: Fratter
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
mesh_terms: D001921:Brain / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D017630:Connexins / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D020521:Stroke / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D044465:White People / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein