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.
Skip Nav Destination
Article navigation
July 2014
Case Report|
July 01 2014
Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness
Gun-Ha Kim, MD;
Gun-Ha Kim, MD
aDepartments of Pediatrics, and
Search for other works by this author on:
Kyoung Min Kim, MD;
Kyoung Min Kim, MD
bRadiology, Korea University College of Medicine, Seoul, Korea; and
Search for other works by this author on:
Sang-il Suh, MD;
Sang-il Suh, MD
bRadiology, Korea University College of Medicine, Seoul, Korea; and
Search for other works by this author on:
Chang-Seok Ki, MD;
Chang-Seok Ki, MD
cDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for other works by this author on:
Baik-Lin Eun, MD
aDepartments of Pediatrics, and
Address correspondence to Baik-Lin Eun, MD, PhD, Department of Pediatrics, Korea University Guro Hospital, 97 Gurodong-gil, Guro-gu, Seoul 152-703, Korea. E-mail: bleun@korea.ac.kr
Search for other works by this author on:
Address correspondence to Baik-Lin Eun, MD, PhD, Department of Pediatrics, Korea University Guro Hospital, 97 Gurodong-gil, Guro-gu, Seoul 152-703, Korea. E-mail: bleun@korea.ac.kr
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2014) 134 (1): e270–e273.
Article history
Accepted:
December 04 2013
Citation
Gun-Ha Kim, Kyoung Min Kim, Sang-il Suh, Chang-Seok Ki, Baik-Lin Eun; Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness. Pediatrics July 2014; 134 (1): e270–e273. 10.1542/peds.2012-3243
Download citation file:
Sign in
Don't already have an account? Register
Pay-Per-View Access
$25.00
I would love to get any new information you have on this patient as far as how the progression of symptoms has gone. My son had 2 similar events and we just found out that he has the genetic condition as well.