Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1

Abstract

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1) gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affected by neuropathy who carries a pathologic mutation in GJB1. He has experienced three transient episodes with variable neurological deficits over the course of 7 years with corresponding changes on magnetic resonance imaging (MRI). This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the evolution of associated reversible abnormalities on MRI over time. To the best of our knowledge, this report provides the longest period of serial imaging in a single patient with this condition in the English language literature.

Keywords: CMTX1; Charcot-Marie-Tooth disease; Hereditary motor sensory neuropathy; Magnetic resonance imaging; Transient neurological symptoms.

Fig. 1

Progression of cerebral white matter lesions associated with CMTX1 in a single patient over 7 years. DWI = Diffusion-weighted imaging; ADC = apparent diffusion coefficient. a Initial presentation in September 2007 associated clinically with right-sided weakness demonstrates diffusion-weighted and FLAIR signal in the left greater than right centrum semiovale and the splenium of the corpus callosum. b Follow-up imaging in December 2007 with near-complete resolution of the DWI and FLAIR hyperintensities. c Second exacerbation of stroke-like symptoms in July 2008 associated with left-sided weakness and large hyperintensities in the bilateral centrum semiovale, corticospinal tracts, splenium of the corpus callosum, and the right cerebellar peduncle on DWI and FLAIR sequences. d Follow-up imaging inDecember 2011 demonstrates resolution of lesions in the right cerebellar peduncle, bilateral centrum semiovale, and splenium of corpus callosum, with a residual small area of FLAIR hyperintensity in the left cerebellar peduncle. e Presentation in November 2014 with dysarthria, left-sided weakness, and dysesthesia demonstrating restricted diffusion and FLAIR hyperintensity in the right greater than left corona radiata and left genu of the corpus callosum. The previously visualized signal in the left cerebellar peduncle has resolved.