Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

Author:

Nandy Anirban,Tankisi Hatice,Krøigård Anne Bruun,Dalager Maiken Glud,Hvidbjerg Marie Skov,Schrøder Henrik Daa,Obál Izabella

Abstract

Abstract Background Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The putative mechanism is considered immune-related. Other manifestations aside from neuromuscular symptoms have not been described previously. Case presentation We present a case with atypical sporadic late onset nemaline myopathy (SLONM) of a non-HIV, non-MGUS subtype, where skin manifestations preceded neuromuscular symptoms, and a residual thymus with the histology of thymic follicular hyperplasia was detected during the diagnostic workup. Thorough dermatological investigations could not explain the skin presentations. Muscle biopsy revealed variation in fiber diameter, ragged-red and COX-negative fibers associated with discrete fibrosis. Electron microscopy detected atrophic muscle fibres with disorganization of the myofibrils, nemaline rods and abnormal mitochondria. Single-fiber EMG suggested signs of a neuromuscular transmission defect, EMG showed signs of myopathy. Analyses of antibodies associated with myasthenia gravis were negative. The patient showed improvement after intravenous immunoglobulin treatment regarding both the skin and the muscle symptoms. Conclusions Our case highlights the heterogeneity of SLONM with its varied spectrum of presentation. A unique combination of dermatological symptoms and SLONM could be seen with skin lesions as primary presenting symptoms. An association can be considered between the different manifestations, presumably based on immune etiology, where immunosuppressive therapy has been beneficial.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. eEF1α2 is required for actin cytoskeleton homeostasis in the aging muscle;Disease Models & Mechanisms;2024-08-29

2. Sporadic Late-Onset Nemaline Myopathy: Current Landscape;Current Neurology and Neuroscience Reports;2023-10-19

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