Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease type 1: report of two cases

Abstract

Transient central nervous system symptoms and reversible white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1. We reported two cases of X-linked Charcot-Marie-Tooth disease type 1 associated with reversible white matter lesions. Patient 1 is a 15-year old boy who presented with paroxysmal speech disorders and limb weakness at the beginning of the illness. He still walked unsteadily after discharge. Patient 2 is a 13-year old girl with transient numbness and weakness in her left extremities and slurred speech. She completely recovered. Both of them presented pes cavus without obvious family history or personal history. Both of them showed primary symptom of central nervous system with MRI abnormal findings in corpus callosum and periventricular areas. The electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy in patient 1 but no significant abnormalities in patient 2. The genetic analysis of both patients showed a pathogenic mutation in GJB1 gene. Clinicians should improve the recognition of X-linked Charcot-Marie-Tooth disease type 1. This type of disorders can behave as symptoms of nervous system firstly even if there is no other typical characteristics, such as peripheral nervous system involvement. Key words: Charcot-Marie-Tooth disease; Central nervous system; Mutation