Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1785059685022302208 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10273545 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT nandyanirban sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT tankisihatice sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT krøigardannebruun sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT dalagermaikenglud sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT hvidbjergmarieskov sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT schrøderhenrikdaa sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment AT obalizabella sporadiclateonsetnemalinemyopathywithconcurrentdermatologicalsymptomsrespondingtoimmunosuppressivetreatment |