P-PN013. Charcot-Marie-Tooth with transient leukodystrophy: A case report

Abstract

Introduction . Charcot-Marie-Tooth (CMT), a chronic hereditary peripheral neuropathy, in some rare cases is associated with transient leukodystrophy, making its diagnosis difficult. Results . A 14-year-old boy, after playing football, had a sudden onset of crisis of stiff, numb jaw and tip of tongue, causing drooling, difficulty swallowing and speaking; this numbness spread to his arms. This crisis lasted for 1 to 2 hours; with the daily frequency of 2-3 attacks, at fixed hours. Sometimes he had incontinence. Diagnosed as having epilepsy, he was admitted. Symptoms self ameliorated 3 days later, then discharged. No symptoms recurrence during 4 months follow-up. Two years before admission, his feet were overturned while walking; he was unable to sit straight and had to raise his buttocks. Family history was unremarkable. Neurology examination: Normal sensory function, slight distal weakness of feet, absent tendon reflexes, no pyramid signs, no bladder sphincter disorder. He had pes cavus, and he said he had this deformity for 3 years. Laboratory tests and imaging diagnosis: Normal CBC, CRP, ionogram, glycemia, CPK, and CSF, chest X-ray, and cardiac ultrasound. Brain MRI showed high T2–weighted signal in splenium area of corpus callosum, in white matter behind bilateral centrum ovale, parietal, and occipital regions. These lesions improved on follow-up brain MRI performed 2 months later. Electrodiagnostic studies (EDx) highlighted sensorimotor polyneuropathy, with low SNAP and CMAP of upper and lower limbs. Needle test showed fibrillation, MUP polyphases. Gene panel (Diagsure) for typing CMT shows a homozygous missence mutation (c589 G>C, p.Ala197Pro) in the GJB1 gene of chromosome X. This mutation related to Charcot-Mare-Tooth, has not been reported in ClinVar. Conclusion . Based on history, clinical symptoms, EMG, and gene panel, this is a typical case of CMT1X causing peripheral symptoms and signs. Though transient central symptoms might cause confusion, typing of CMT1X supported transient leucodystrophy.