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Keritam, O.* ; Haas, P.* ; Klotz, S.* ; Kastrati, K.* ; Krenn, M.* ; Wagner, M. ; Hasenoehrl, T.* ; Weng, R.* ; Zulehner, G.* ; Kasprian, G.* ; Regelsberger, G.* ; Kiener, H.* ; Gelpi, E.* ; Zimprich, F.* ; Cetin, H.* ; Scherer, T.* ; Jengojan, S.*

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

J. Neuromuscul. Dis., DOI: 10.1177/22143602251385048 (2025)
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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 type Article: Journal article
Document type Scientific Article
Keywords Case Report ; Dermatomyositis ; Inflammatory Myopathy ; Late Onset Pompe Disease
Language english
Publication Year 2025
HGF-reported in Year 2025
ISSN (print) / ISBN 2214-3599
e-ISSN 2214-3602
Journal Journal of neuromuscular diseases
Publisher IOS Press
Publishing Place Amsterdam
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
DOI 10.1177/22143602251385048
PubMed ID 41124303
Erfassungsdatum 2025-10-23
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