Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

IF 3.2 3区医学 Q1 CLINICAL NEUROLOGY

Journal of the Peripheral Nervous System Pub Date : 2026-03-01 DOI:10.1111/jns.70115

Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou

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引用次数: 0

Abstract

Background and aims: CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H.

Case report: We report a 45-year-old woman with a history of long-standing diplopia. On examination, she had bilateral limitation of eye abduction, with double vision in all directions of gaze, particularly horizontally. She was unable to heel-walk, had mild lower limb distal weakness, decreased tendon reflexes with absent Achilles reflexes, reduced distal vibration sense, pes cavus, and hammertoes. A dominant family history was noted. Brain MRI revealed bilateral contrast enhancement and thickening of cranial nerves III through XII. Genetic testing with whole exome sequencing revealed a known, recurring, heterozygous, likely pathogenic missense variant in FBLN5 [c.1117C>T; p. (Arg373Cys)], consistent with a diagnosis of CMT1H.

Interpretation: This is the first reported case of FBLN5-related CMT1H with symptomatic cranial nerve involvement, expanding the known phenotypic spectrum of the disease.

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复发性FBLN5变异所致CMT1H颅神经受累伴复视的表现特征

背景和目的：CMT1H是一种罕见的，常染色体显性，脱髓鞘的CMT亚型，由FBLN5变异引起。CMT1H患者的症状性脑神经受累从未报道过。病例报告：我们报告一位45岁女性，有长期复视病史。检查时，患者双侧眼外展受限，所有凝视方向，尤其是水平方向双视。患者不能用脚跟行走，下肢远端轻度无力，跟腱反射减弱，无跟腱反射，远端振动感减弱，有足弓和锤状趾。有显性家族史。脑部MRI显示双侧脑神经III至XII增强及增厚。全外显子组测序的基因检测显示，FBLN5中存在一种已知的、复发的、杂合的、可能致病性错义变异[c.1117C>T；p. (Arg373Cys)]，符合CMT1H的诊断。解释：这是首次报道的fbln5相关CMT1H伴有症状性脑神经受累的病例，扩大了该疾病已知的表型谱。

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 the Peripheral Nervous System 医学-临床神经学

CiteScore

6.10

自引率

7.90%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.