title: 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: Departments of Pediatrics, and.
authors: Gun-Ha
authors: GH
authors: Kim
authors: Radiology, Korea University College of Medicine, Seoul, Korea; and.
authors: Kyoung Min
authors: KM
authors: Kim
authors: Radiology, Korea University College of Medicine, Seoul, Korea; and.
authors: Sang-Il
authors: SI
authors: Suh
authors: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Chang-Seok
authors: CS
authors: Ki
authors: Departments of Pediatrics, and bleun@korea.ac.kr.
authors: Baik-Lin
authors: BL
authors: Eun
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis*; D003711:Demyelinating Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004679:Encephalomyelitis / Q000175:diagnosis*; D006801:Humans; D008297:Male
keywords: Charcot-Marie-Tooth disease; connexin 32; encephalomyelitis, acute disseminated; peripheral nervous system diseases