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A case with CMTX1 disease showing transient ischemic-attack-like episodes
Affiliations- Health Sciences University, Istanbul Fatih Sultan Mehmet Training and Research Hospital, Department of Neurology, Istanbul, Türkiye
- Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Türkiye
- Spastic Childrens’ Foundation of Turkey (TSCV), Neurology Consultant, Istanbul, Türkiye
- Istanbul University, Istanbul Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Türkiye
- Maltepe University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Istanbul, Türkiye
- Memorial University Hospital. Department of Neurology, Stroke Center, Istanbul, Türkiye
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Abstract
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed.
Abstract
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed.
Keywords
Transient ischemic-attack-like, Stroke-like, CMTX1, GJB1, Pes cavus
About this articleTitle
A case with CMTX1 disease showing transient ischemic-attack-like episodes
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
285-288
Published online
2017-11-09
Page views
219
Article views/downloads
355
DOI
10.1016/j.pjnns.2017.10.016
Bibliographic record
Neurol Neurochir Pol 2018;52(2):285-288.
Keywords
Transient ischemic-attack-like
Stroke-like
CMTX1
GJB1
Pes cavus
Authors
Zehra Aktan
Nihan Hande Akcakaya
Pinar Tekturk
Engin Deniz
Bahar Koyuncu
Zuhal Yapici
