Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness

• Published in: Pediatrics (Evanston) Vol. 134; no. 1; p. e270
• Main Authors: Kim, Gun-Ha, Kim, Kyoung Min, Suh, Sang-Il, Ki, Chang-Seok, Eun, Baik-Lin
• Format: Journal Article
• Language: English
• Published: United States 01.07.2014
• Subjects: Acute Disease; Adolescent; Charcot-Marie-Tooth Disease - diagnosis; Demyelinating Diseases - diagnosis; Diagnosis, Differential; Encephalomyelitis - diagnosis; Humans; Male; encephalomyelitis, acute disseminated; connexin 32; Charcot-Marie-Tooth disease; peripheral nervous system diseases
• ISSN: 1098-4275
• DOI: 10.1542/peds.2012-3243

X-linked Charcot-Marie-Tooth disease (CMTX1) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Mutations in the connexin-32 gene (gap junction protein β1 [GJB1]) are responsible for CMTX1 disease. In this report, we describe a patient with CMTX1 disease presenting with recurrent attacks of transient and episodic acute demyelinating encephalomyelitis (ADEM)-like symptoms without previous signs of lower extremity weakness or foot deformities; the patient, as well as his asymptomatic mother, exhibited a novel GJB1 mutation (p.Met1Ile). Differential diagnosis of recurrent and transient ADEM-like illness, if unexplained, should include the possibility of CMTX1 disease.