夏科-马里-图思病1A型的非典型表现：一例报告

Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.

作者信息

Kulkarni Shilpa D, Sayed Rafat, Garg Meenal, Patil Varsha A

机构信息

Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

出版信息

Neuromuscul Disord. 2015 Nov;25(11):916-9. doi: 10.1016/j.nmd.2015.09.002. Epub 2015 Sep 7.

DOI:10.1016/j.nmd.2015.09.002

PMID:26432165

Abstract

Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.

摘要

夏科-马里-图思病（CMT）1A型是CMT病最常见的形式，其特征是外周髓鞘蛋白22（PMP22）基因重复。我们报告了一名经基因确诊为CMT1A型疾病的男孩，其临床症状累及舌下神经和舌咽神经，且存在不对称性，主要累及上肢。这些非典型特征拓宽了CMT1A型的临床谱，引发了关于PMP22基因相关疾病以及相似基因突变的不同临床表型的有趣观察。