Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness
- Authors
- Kim, Gun-Ha; Kim, Kyoung Min; Suh, Sang-il; Ki, Chang-Seok; Eun, Baik-Lin
- Issue Date
- 7월-2014
- Publisher
- AMER ACAD PEDIATRICS
- Keywords
- Charcot-Marie-Tooth disease; connexin 32; encephalomyelitis; acute disseminated; peripheral nervous system diseases
- Citation
- PEDIATRICS, v.134, no.1, pp.E270 - E273
- Indexed
- SCIE
SCOPUS
- Journal Title
- PEDIATRICS
- Volume
- 134
- Number
- 1
- Start Page
- E270
- End Page
- E273
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/98008
- DOI
- 10.1542/peds.2012-3243
- ISSN
- 0031-4005
- 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 beta 1 [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.
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