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

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...

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Autores principales: Nandy, Anirban, Tankisi, Hatice, Krøigård, Anne Bruun, Dalager, Maiken Glud, Hvidbjerg, Marie Skov, Schrøder, Henrik Daa, Obál, Izabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10273545/
https://www.ncbi.nlm.nih.gov/pubmed/37328820
http://dx.doi.org/10.1186/s12883-023-03283-7
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author Nandy, Anirban
Tankisi, Hatice
Krøigård, Anne Bruun
Dalager, Maiken Glud
Hvidbjerg, Marie Skov
Schrøder, Henrik Daa
Obál, Izabella
author_facet Nandy, Anirban
Tankisi, Hatice
Krøigård, Anne Bruun
Dalager, Maiken Glud
Hvidbjerg, Marie Skov
Schrøder, Henrik Daa
Obál, Izabella
author_sort Nandy, Anirban
collection PubMed
description 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.
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spelling pubmed-102735452023-06-17 Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment Nandy, Anirban Tankisi, Hatice Krøigård, Anne Bruun Dalager, Maiken Glud Hvidbjerg, Marie Skov Schrøder, Henrik Daa Obál, Izabella BMC Neurol Case Report 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. BioMed Central 2023-06-16 /pmc/articles/PMC10273545/ /pubmed/37328820 http://dx.doi.org/10.1186/s12883-023-03283-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Nandy, Anirban
Tankisi, Hatice
Krøigård, Anne Bruun
Dalager, Maiken Glud
Hvidbjerg, Marie Skov
Schrøder, Henrik Daa
Obál, Izabella
Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title_full Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title_fullStr Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title_full_unstemmed Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title_short Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
title_sort sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10273545/
https://www.ncbi.nlm.nih.gov/pubmed/37328820
http://dx.doi.org/10.1186/s12883-023-03283-7
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