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

G. Anand, N. Maheshwari, D. Roberts, A. Padeniya, M. Hamilton-Ayers, M.S. van der Knaap, C. Fratter, S. Jayawant

    Research output: Contribution to JournalArticleAcademicpeer-review

    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. © The Authors. Journal compilation © Mac Keith Press 2010.
    Original languageEnglish
    Pages (from-to)677-679
    JournalDevelopmental Medicine and Child Neurology
    Volume52
    Issue number7
    DOIs
    Publication statusPublished - 2010

    Fingerprint

    Charcot-Marie-Tooth Disease
    Stroke
    Magnetic Resonance Imaging
    Peripheral Nervous System Diseases
    Mutation
    Abnormal Reflexes
    Corpus Callosum
    Aphasia
    Brain
    Paresis
    Genes
    Foot
    Central Nervous System
    Population
    Proteins
    Charcot-Marie-Tooth disease, X-linked, 1
    White Matter

    Cite this

    Anand, G. ; Maheshwari, N. ; Roberts, D. ; Padeniya, A. ; Hamilton-Ayers, M. ; van der Knaap, M.S. ; Fratter, C. ; Jayawant, S. / X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. In: Developmental Medicine and Child Neurology. 2010 ; Vol. 52, No. 7. pp. 677-679.
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    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. {\circledC} The Authors. Journal compilation {\circledC} Mac Keith Press 2010.",
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    Anand, G, Maheshwari, N, Roberts, D, Padeniya, A, Hamilton-Ayers, M, van der Knaap, MS, Fratter, C & Jayawant, S 2010, 'X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode' Developmental Medicine and Child Neurology, vol. 52, no. 7, pp. 677-679. https://doi.org/10.1111/j.1469-8749.2010.03674.x

    X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. / Anand, G.; Maheshwari, N.; Roberts, D.; Padeniya, A.; Hamilton-Ayers, M.; van der Knaap, M.S.; Fratter, C.; Jayawant, S.

    In: Developmental Medicine and Child Neurology, Vol. 52, No. 7, 2010, p. 677-679.

    Research output: Contribution to JournalArticleAcademicpeer-review

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