散发性包涵体肌炎1例
A case report of sporadic inclusion body myositis
林晓丹 1陈龙 2郑富泽 2郑颖 2曾明慧 2林锋 3林珉婷 3王柠 3王志强3
作者信息
- 1. 福建医科大学附属第一医院神经内科、神经病学研究所,福建省分子神经病学重点实验室(福州 350005);福建医科大学附属闽东医院神经内科
- 2. 福建医科大学附属第一医院神经内科、神经病学研究所,福建省分子神经病学重点实验室(福州 350005)
- 3. 福建医科大学附属第一医院神经内科、神经病学研究所,福建省分子神经病学重点实验室(福州 350005);福建医科大学附属第一医院滨海院区国家区域医疗中心神经内科
- 折叠
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(Sequesto-some-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.
Abstract
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.
关键词
散发性包涵体肌炎/病理学/p62/TDP-43/cN1A抗体Key words
Sporadic inclusion body myositis/Pathology/p62/TDP-43/cN1A antibody引用本文复制引用
基金项目
国家自然科学基金(81974193)
福建省联合基金(2020Y9016)
福建省卫生健康中青年科研重大项目(2023ZQNZD004)
福建省自然科学基金(2023J011905)
出版年
2024
NETL
NSTL
维普
万方数据