• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of clinical neuromuscular disease >Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis
【24h】

Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis

机译：Charcot-Marie-Tooth疾病4J和多发性硬化症

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

To the Editor: Charcot-Marie-Tooth disease type 4J (CMT4J) is a demyelinating polyneuropathy caused by biallelic mutations in the FIG4 gene. Clinical features include mild motor symptoms during childhood and progressive asymmetric proximal and distal weakness and atrophy with minimal sensory symptoms during teenage years or adulthood. Electrophysiological findings often mimic acquired demyelinating neuropathies. We describe the first reported case of genetically confirmed CMT4J and multiple sclerosis (MS) presenting in a 17-year-old boy. Patient presented at age 11 years with acute onset of left face and extremity numbness and weakness without encephalopathy. Magnetic resonance imaging of the brain showed FLAIR/T2 signal abnormalities in the white matter, brainstem, and cervical cord. Cerebrospinal fluid revealed 26 unique oli-goclonal bands and increased IgG index. He was given high dose intravenous steroids followed by an oral steroid taper. There was overall symptom improvement with residual left upper extremity weakness. He fulfilled the 2017 McDonald Criteria for MS and was started on glatiramer acetate. Despite initiation of the glatiramer acetate, he continued to have new clinically silent lesions on imaging. Monthly pulse oral dexamethasone was added at 13 years of age with stabilization of lesions for 1 year. After stopping monthly steroids, patient developed left optic neuritis. Magnetic resonance imaging confirmed new silent supratentorial lesions. Escalation of treatment with interferon beta-la stabilized the symptoms for 1.5 years. Patient had recurrence of left optic neuritis at the age of 15 years. On follow-up examinations, he was noted to have progressively worsening left upper extremity weakness and atrophy that was unusual for MS. He was switched to fingolimod at the age of 17 years due to further cervical demyelinating lesions. An extensive work-up was performed to evaluate for alternate diagnoses. Examination revealed pes cavus, asymmetric left upper and lower extremity proximal and distal weakness, right lower extremity distal weakness, left biceps, deltoid, and infraspinatus atrophy, absent patellar reflexes, and distal sensory abnormalities. Nerve conduction studies showed demyelinating sensorimotor polyneuropathy. Electromyography revealed active and chronic denervation of the weak left upper extremity muscles. Thickening with increased short T1 inversion recovery and contrast enhancement of bilateral brachial plexus was noted. Comprehensive etiologi-cal evaluation for acquired neuropathies was unrevealing. Whole exome sequencing identified a homozygous pathogenic variant (c.122T>C; p.Ile4lThr) in FIG4.
机译：对于编辑：Charcot-Marie-Doother疾病类型4J（CMT4J）是由图4基因的双胞胎突变引起的脱髓鞘发生的多变病变。临床特征包括儿童时期的轻度电机症状和渐近的不对称近端和远端弱点和萎缩，在青少年或成年期间具有最小的感觉症状。电生理学发现往往是模仿脱髓鞘神经病。我们描述了在17岁男孩中呈现的转基因CMT4J和多发性硬化（MS）的第一个报告的案例。患者在11年内呈现，左侧急性发作和肢体麻木和无脑病的弱点。脑的磁共振成像显示白质，脑干和颈帘线的Flair / T2信号异常。脑脊液揭示了26个独特的Oli-Goclonal带和增加的IgG指数。他给了高剂量静脉类固醇，然后是口腔类固醇锥度。剩余左上肢体弱点总体症状改善。他满足了MS的2017年麦当劳标准，并开始于Glatiramer醋酸盐。尽管启动了Glativeramer醋酸盐，但他继续在成像上具有新的临床沉默病变。 13岁以13岁添加每月脉冲口服地塞米松，稳定病变1年。在停止月度类固醇后，患者发育了左视神经炎。磁共振成像证实了新的静音超级病变。干扰素β-LA治疗的升级稳定症状1.5岁。患者在15岁时左视神经炎复发。关于后续考试，他被指出逐渐恶化左上肢弱点和萎缩的萎缩。由于进一步的颈椎脱髓鞘病变，他于17岁时切换到佛教司。进行了广泛的处理，以评估替代诊断。检查揭示了PES CAVUS，不对称左上末端和下肢近端和远端弱点，右下末端远端弱点，左二头肌，三合一，侵入性萎缩，不存在髌骨反射，远端感觉异常。神经传导研究显示脱髓鞘传感器多变病变。肌电学术揭示了弱左上肢肌肉的活性和慢性丧生。增厚随着短的T1反转恢复和双侧臂丛的逆转恢复和对比度增强。综合的预测神经病评估是缺乏效果。整体exome测序鉴定了图1中的纯合的致病变体（C.122T> C; P.ILE4LTHR）。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号