摘要
回顾性分析1例散发性包涵体肌炎(sporadic inclusion body myositis, sIBM)患者的临床表现、肌肉影像学、肌肉组织病理学与免疫病理学、超微结构及肌炎抗体谱等特点。患者,男,69岁,双下肢无力3年余,逐渐出现握力差、吞咽费力感;肌酸激酶轻度升高;EMG示肌源性损害;大腿肌肉MRI示双侧股外侧肌、股内侧肌及股中间肌脂肪浸润,股直肌、半膜肌及半腱肌相对保留;肌肉组化示中度炎症性肌病改变,伴镶边空泡及p62(Sequestosome-1)、TDP-43(TAR DNA binding protein-43)在胞内聚集;电镜下肌丝间可见中等量涡轮状髓样小体;肌炎抗体谱示cN1A(cytoplasmic 5'-nucleotidase 1A)抗体阳性。sIBM的起病年龄及肌群受累模式有其特殊性,但早期临床表现缺乏特异性,诊断困难,分子生物标记物有助于确诊及机制研究。
A retrospective analysis was performed to analyze clinical manifestations,muscle imaging,histopathology,immunopathology,ultrastructure,and myositis antibody spectrum in a patient with sporadic inclusion body myositis(sIBM).The patient,69-year-old male,presented with progressive weakness in the lower extremity,accompanied by decreased grip strength and mild difficulty in swallowing.Serum creatine kinase levels were mildly elevated;electromyography showed myogenic damage;thigh muscle MRI revealed fatty infiltration in the vastus lateralis,vastus medialis and vastus intermedius,with relatively preserved rectus femoris,semimembranosus and semitendinosus muscles.Muscle histopathology demonstrated moderate inflammatory myopathy with rimmed vacuoles and the intracellular deposition of p62(Sequestosome 1)and TDP-43(TAR DNA binding protein-43);Electron microscopy revealed a moderate number of turbinate-shaped myeloid bodies;Myositis antibody spectrum demonstrated positivity for anti-cN1A(cytoplasmic 5'-nucleotidase 1A)antibodies.sIBM demonstrated unique features in the age of onset and patterns of muscle group involvement.However,early clinical manifestations lacked specificity,making the diagnosis challenging.Molecular biomarkers played a crucial role in aiding accurate diagnosis and facilitating mechanistic study.
作者
林晓丹
陈龙
郑富泽
郑颖
曾明慧
林锋
林珉婷
王柠
王志强
LIN Xiaodan;CHEN Long;ZHENG Fuze;ZHENG Ying;ZENG Minghui;LIN Feng;LIN Minting;WANG Ning;WANG Zhiqiang(Department of Neurology and Institute of Neurol-ogy of First Affiliated Hospital,Institute of Neuroscience,and Fujian Key Laboratory of Molecular Neurology,Fujian Medi-cal University,Fuzhou 350005,China;Department of Neurology,National Regional Medical Center,Binhai Campus of the First Affiliated Hospital,Fujian Medical University,Fuzhou 350212,China)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2024年第2期114-118,共5页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金项目(编号:81974193)
福建省联合基金项目(编号:2020Y9016)
福建省卫生健康中青年科研重大项目(编号:2023ZQNZD004)
福建省自然科学基金项目(编号:2023J011905)。
