Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness

Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials. Here we present a case of a 52-year-old male with paraparesis, elevated creatine kinase-levels, antibodies against the Mi-2 antigen and subtle skin lesions, leading to subsequent treatment for dermatomyositis. Beyond that, exome sequencing revealed biallelic variants in the gene encoding acid alpha-glucosidase with concordant reduced enzymatic activity in fibroblasts, indicating late onset Pompe disease. Subsequently performed magnetic resonance imaging revealed a pattern of involvement typical for LOPD, but histological workup from the vastus lateralis muscle was more indicative of an immune-mediated myopathy. After treatment for dermatomyositis and Pompe disease the patient showed an improvement in skin changes and a halt in muscular weakness. In conclusion, both entities could be seen in the patient. However, early and prolonged subclinical hyper-CK-emia hinted at Pompe disease as the primary entity.

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Publication Details

Journal
Journal of Neuromuscular Diseases
Published
2025-10-22
DOI
https://doi.org/10.1177/22143602251385048
Primary Topic
Inflammatory Myopathies and Dermatomyositis
Type
article
Field-Weighted Citation Impact
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article

Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness

Kastriot Kastrati, Philipp Haas, Sigrid Klotz, Suren Jengojan et al.
Journal of Neuromuscular Diseases
Inflammatory Myopathies and Dermatomyositis
article

Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness

Kastriot Kastrati, Philipp Haas, Sigrid Klotz, Suren Jengojan, Günther Regelsberger, Omar Keritam, Rosa Weng, Thomas Scherer, Gregor J. Kasprian, Ellen Gelpí, Hakan Çetin, Matias Wagner, Fritz Zimprich, Martin Krenn, Timothy Hasenoehrl, Gudrun Zulehner, Hans P. Kiener
article en

Abstract

Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials. Here we present a case of a 52-year-old male with paraparesis, elevated creatine kinase-levels, antibodies against the Mi-2 antigen and subtle skin lesions, leading to subsequent treatment for dermatomyositis. Beyond that, exome sequencing revealed biallelic variants in the gene encoding acid alpha-glucosidase with concordant reduced enzymatic activity in fibroblasts, indicating late onset Pompe disease. Subsequently performed magnetic resonance imaging revealed a pattern of involvement typical for LOPD, but histological workup from the vastus lateralis muscle was more indicative of an immune-mediated myopathy. After treatment for dermatomyositis and Pompe disease the patient showed an improvement in skin changes and a halt in muscular weakness. In conclusion, both entities could be seen in the patient. However, early and prolonged subclinical hyper-CK-emia hinted at Pompe disease as the primary entity.

Journal of Neuromuscular Diseases
Helmholtz Association of German Research Centres (DE), Helmholtz Zentrum München (DE), Technical University of Munich (DE), Medical University of Vienna (AT)
Openalex Percentile: Top 59%
Inflammatory Myopathies and Dermatomyositis
DOIOpen Access PDFOpenAlex
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