Schwannomatosis of the Spinal Accessory Nerve: A Case Report.

IF 1.1 Q4 CLINICAL NEUROLOGY

Journal of Brachial Plexus and Peripheral Nerve Injury Pub Date : 2019-04-26 eCollection Date: 2019-01-01 DOI:10.1055/s-0039-1685457

Ramin A Morshed, Anthony T Lee, Young M Lee, Cynthia T Chin, Line Jacques

引用次数: 4

Abstract

Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previously reported in this disease context.

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脊髓副神经神经鞘瘤病1例报告。

神经鞘瘤病是一种独特的综合征，其特征是多发性周围神经神经鞘瘤，可以是散发性的或家族性的。影响下颅神经的病例并不多见。在这里，作者提出一个罕见的病例神经鞘瘤病影响左脊副神经。经遗传筛选，发现Sox 10基因的密码子p.R177处有帧内插入。NF1、NF2、LZTR1和SMARCB1没有明显的改变。该病例表现出一种罕见的神经鞘瘤病的临床表现，此外还有一种遗传畸变，以前没有在这种疾病背景下报道过。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Brachial Plexus and Peripheral Nerve Injury CLINICAL NEUROLOGY-

CiteScore

1.70

自引率

14.30%

发文量

审稿时长

12 weeks

期刊介绍： JBPPNI is an open access, peer-reviewed online journal that will encompass all aspects of basic and clinical research findings, in the area of brachial plexus and peripheral nerve injury. Injury in this context refers to congenital, inflammatory, traumatic, degenerative and neoplastic processes, including neurofibromatosis. Papers on diagnostic and imaging aspects of the peripheral nervous system are welcomed as well. The peripheral nervous system is unique in its complexity and scope of influence. There are areas of interest in the anatomy, physiology, metabolism, phylogeny, and limb growth tropism of peripheral nerves.