A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.
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面肩肱型肌营养不良症伴有周围神经病变和肌阵挛癫痫的“三重麻烦”病例。
DOI：
10.4103/0366-6999.240797
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发表时间：
2018-09-20
影响因子：
6.1
通讯作者：
Xu GR
中科院分区：
文献类型：
--
作者：
Lin XD;He JJ;Lin F;Chen HZ;Xu LQ;Hu W;Cai NQ;Lin MT;Wang N;Wang ZQ;Xu GR
面肩肱型肌营养不良症（FSHD）是一种以面部、肩胛带肌肉及下肢肌肉为主要表现的非对称性肌营养不良，但同时存在多种肌外表现或重叠综合征。在此，我们报告了一个“复杂疾病加”患者FSHD 1，伴随周围神经病变和肌阵挛性癫痫。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标准临床评估、特定辅助检查、组织学分析和分子分析。患者表现为轻度面部无力、肱骨多山征、肩胛翼、腓骨无力、垂足、高脚和肌阵挛性癫痫。此外，电生理检查显示严重的脱髓鞘和轴突损伤。肌肉和神经活检显示广泛的纤维II型分组萎缩和有髓神经纤维，显着减少与薄的有髓纤维和洋葱球的变化。脑电图的广义尖波和尖慢波复合波支持肌阵挛性癫痫的诊断。此外，分子检测证实了共分离的20-kb 4 q35-EcoRI片段和允许等位基因A，这对应于D4 Z4低甲基化状态的家庭。病人的母亲和兄弟都只有典型的FSHD，但没有重叠的综合征。然而，没有发现遗传性周围神经病和肌阵挛性癫痫突变的MLPA和WES。本研究描述了FSHD、周围神经病变和肌阵挛性癫痫的“内脏问题”，增加了重叠综合征的谱，有助于非典型表型的可靠诊断。它将为医疗保健和遗传咨询提供直接线索。
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.
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影响因子：
2.8
作者：
Ricci, Giulia;Scionti, Isabella;Ali, Greta;Volpi, Leda;Zampa, Virna;Fanin, Marina;Angelini, Corrado;Politano, Luisa;Tupler, Rossella;Siciliano, Gabriele
通讯作者：
Siciliano, Gabriele
影响因子：
9.9
作者：
Gaillard, Marie-Cecile;Roche, Stephane;Magdinier, Frederique
通讯作者：
Magdinier, Frederique
影响因子：
3.5
作者：
Lemmers, Richard J. L. F.;Goeman, Jelle J.;van der Maarel, Silvere M.
通讯作者：
van der Maarel, Silvere M.
影响因子：
5.1
作者：
Trevisan, C. P.;Pastorello, E.;Comacchio, F.
通讯作者：
Comacchio, F.
影响因子：
2.8
作者：
Korngut, Lawrence;Siu, Victoria M.;Campbell, Craig
通讯作者：
Campbell, Craig