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

Abstract

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.

• Authors: Gun-Ha Kim, Kyoung Min Kim, Sang-Il Suh, Chang-Seok Ki, Baik-Lin Eun
• Journal: Pediatrics (Pediatrics) Vol. 134 Issue 1 Pg. e270-3 (Jul 2014) ISSN: 1098-4275 [Electronic] United States
• PMID: 24958582 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 by the American Academy of Pediatrics.

Topics

• Acute Disease
• Adolescent
• Charcot-Marie-Tooth Disease (diagnosis)
• Demyelinating Diseases (diagnosis)
• Diagnosis, Differential
• Encephalomyelitis (diagnosis)
• Humans
• Male