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

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

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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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.

Original languageEnglish
Article number233
JournalBMC Neurology
Volume23
ISSN1471-2377
DOIs
Publication statusPublished - 16. Jun 2023

Keywords

  • Autoimmunity
  • Muscle disease
  • Nemaline
  • Skin manifestations
  • SLONM
  • Muscle, Skeletal/pathology
  • Myopathies, Nemaline/complications
  • Immunosuppressive Agents
  • Humans
  • Muscles/pathology
  • Myasthenia Gravis/complications
  • Immunoglobulins, Intravenous

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