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

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.