Human immunodeficiency virus-associated nemaline myopathy: a case report and literature review
10.3760/cma.j.cn113694-20211130-00847
- VernacularTitle:人类免疫缺陷病毒相关的杆状体肌病1例报告并文献复习
- Author:
Wurong LI
1
;
Yawen ZHAO
;
Yiming ZHENG
;
Lingchao MENG
;
Wei ZHANG
;
Zhaoxia WANG
;
Yuming HUANG
;
Yun YUAN
Author Information
1. 首都医科大学附属北京地坛医院神经中心，北京 100015
- Keywords:
Myopathy, nemaline;
HIV;
Biopsy;
Inflammatory myopathy
- From:
Chinese Journal of Neurology
2022;55(6):605-611
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.
