Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-05-01 DOI:10.1016/j.nmd.2025.105361

Sarah Souvannanorath , Giovanni Umberto Borin , Rabah Redjoul , Dehbia Menouche , Elsa Poullot , Anissa Moktefi , Gianmarco Severa , Baptiste Periou , Sultan Bastu , François-Jerome Authier , Jean-Michel Goujon , Emmanuele Lechapt , Edoardo Malfatti

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Abstract

Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset acquired myopathy characterized by the presence of clusters of nemaline bodies (rods) inside atrophic muscle fibers, with mild to no inflammation. Graft-versus-host disease (GVHD) is a systemic disorder occurring after allogenic hematopoietic stem cell transplant (allo-HSCT) variably associated with immune-mediated neuromuscular complications such as myositis, peripheral neuropathy, and myasthenic syndromes.

A 49-year-old woman with an acute myeloid leukemia with translocation (6;9), and transcript DEK-NUP, was treated with chemotherapy and allo-HSCT. One month later, she developed a skin and digestive GVHD followed by the development of subacute progressive proximal muscular weakness. Serum CK were normal, and there was no MGUS. Muscle MRI showed oedema of paravertebral, pelvic girdle, and lower limbs muscle. Corticosteroids, IVIg, immunosuppressive, and anti-JAK treatments ameliorated the GVHD, but were ineffective on muscle weakness. A vastus lateralis muscle biopsy revealed clusters of rods in the majority of fibers and mild MHC-I expression in keeping with a SLONM. Plasma exchange therapy (PLEX) led to complete recovery of the muscle strength in several months.

In conclusion we report a case of SLONM discovered during a chronic GVHD that responded to prolonged PLEX therapy.

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在移植物抗宿主病期间发现的血浆交换反应的散发性迟发性线状肌病

散发性迟发性线状肌病（SLONM）是一种罕见的成人发病的获得性肌病，其特征是萎缩肌纤维内存在成团的线状体（杆状体），伴有轻度至无炎症。移植物抗宿主病（GVHD）是异体造血干细胞移植后发生的一种全身性疾病，与免疫介导的神经肌肉并发症（如肌炎、周围神经病变和肌无力综合征）不同程度地相关。一名49岁的女性患有急性髓系白血病易位（6;9），转录DEK-NUP，接受化疗和同种异体造血干细胞移植治疗。1个月后，患者出现皮肤和消化道GVHD，随后出现亚急性进行性近端肌无力。血清CK正常，无MGUS。肌肉MRI显示椎旁、骨盆带及下肢肌肉水肿。皮质类固醇、IVIg、免疫抑制和抗jak治疗可改善GVHD，但对肌肉无力无效。股外侧肌活检显示大部分纤维中有杆状细胞簇，轻度mhc - 1表达与SLONM一致。血浆交换疗法（PLEX）使肌肉力量在几个月内完全恢复。总之，我们报告一例SLONM在慢性GVHD中发现，对长期PLEX治疗有反应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.