Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
Chin Med J (Engl). 2018 Sep 20;131(18):2164-2171. doi: 10.4103/0366-6999.240797.
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.
Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.
The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.
The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.
面肩肱型肌营养不良症（FSHD）的特征是面肌、肩胛带肌和降上肢肌的非对称性肌肉缺失，但存在几种肌肉外表现或重叠综合征。在此，我们报告一例 FSHD1 患者，伴有周围神经病和肌阵挛性癫痫。
通过新的综合临床评估表、基于脉冲场凝胶电泳的 Southern 印迹、多重连接依赖性探针扩增（MLPA）、全外显子组测序（WES）和靶向甲基化测序，进行了标准临床评估、特殊辅助检查、组织学分析和分子分析。
患者表现为轻度面肌无力、肱骨多峰征、肩胛翼状、腓骨肌无力、足下垂、马蹄内翻足和肌阵挛性癫痫。此外，电生理学显示严重脱髓鞘和轴索损伤。肌肉和神经活检显示广泛的Ⅱ型纤维群组萎缩和有髓神经纤维明显减少，伴有细髓神经纤维和洋葱球样改变。脑电图显示广泛的尖锐和慢棘-慢复合波支持肌阵挛性癫痫的诊断。此外，分子检测显示 20kb 4q35-EcoRI 片段和允许性等位基因 A 共分离，与家族中 D4Z4 低甲基化状态相对应。患者的母亲和哥哥仅表现出典型的 FSHD，但缺乏重叠综合征。然而，MLPA 和 WES 未发现遗传性周围神经病和肌阵挛性癫痫的突变。
本研究描述了一例 FSHD、周围神经病和肌阵挛性癫痫的“三重麻烦”，增加了重叠综合征的谱，并有助于不典型表型的可信诊断。它为医疗保健和遗传咨询提供了直接线索。
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