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Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report

  • Angela Genge (a1) and Natasha Campbell (a2)

Abstract

Background: Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. Methods: In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Results: Twenty-seven patients provided blood samples for the DBS test. Four patients underwent subsequent genetic testing. Genetic analysis demonstrated that one patient tested positive for Pompe disease and one patient had one copy of a pathogenic variant. Conclusions: In conclusion, the ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening DBS in all patients presenting with a limb-girdle syndrome without a clear diagnosis.

Réévaluer l’utilité de la biopsie musculaire pour diagnostiquer la maladie de Pompe : Une étude confirmatoire. Contexte: Bien que la biopsie musculaire puisse confirmer un diagnostic de maladie de Pompe, des rapports parus antérieurement suggèrent qu’on ne peut exclure un tel diagnostic même en l’absence de résultats définitifs de biopsie. Méthodes: Dans cette étude, nous nous sommes penchés sur les cas de patients atteints de dystrophie musculaire des ceintures qui présentent des anomalies musculaires non spécifiques. Précisons qu’il s’agissait de patients chez lesquels des preuves de changements habituels en matière de déficit en maltase acide n’avaient pas été trouvées. On a alors procédé à un nouveau dépistage de la maladie de Pompe chez ces patients au moyen de l’analyse de gouttes de sang séché (« DBS » en anglais). Résultats: Vingt-sept patients ont fourni des échantillons sanguins pour cette analyse. Ultérieurement, quatre patients ont aussi fait l’objet de tests génétiques ayant montré que l’un d’entre eux était atteint de la maladie de Pompe tandis qu’un autre possédait une copie d’un variant pathogène. Conclusions: L’efficacité de la biopsie musculaire demeure limitée si l’on veut exclure catégoriquement qu’on ait affaire à la maladie de Pompe. L’analyse de gouttes de sang séché peut donc s’avérer utile pour tous les patients qui présentent une dystrophie musculaire des ceintures sans qu’un diagnostic clair n’ait toutefois été établi.

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Copyright

Corresponding author

Correspondence to: N. Campbell, Montreal Neurological Institute and Hospital, Clinical Research Unit, 3801 University Street, Suite 207, Montreal, QC, H3A 2B4, Canada. Email: natasha.campbell@mail.mcgill.ca

References

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