PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
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)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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.
Impact Factor
Scopus SNIP
Altmetric
0.000
0.000
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Case Report ; Dermatomyositis ; Inflammatory Myopathy ; Late Onset Pompe Disease
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 2214-3599
e-ISSN 2214-3602
Zeitschrift Journal of neuromuscular diseases
Verlag IOS Press
Verlagsort Amsterdam
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
DOI 10.1177/22143602251385048
PubMed ID 41124303
Erfassungsdatum 2025-10-23
[➜Korrektur melden]