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Open Access Case report

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

Simona Fecarotta1, Serena Ascione1, Giuseppe Montefusco1, Roberto Della Casa1, Paola Villari2, Alfonso Romano1, Ennio Del Giudice1, Generoso Andria1 and Giancarlo Parenti1*

Author Affiliations

1 Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, Naples, Italy

2 Dipartimento di Otorinolaringoiatria e Scienze Affini, Università di Napoli Federico II, Naples, Italy

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Italian Journal of Pediatrics 2013, 39:30  doi:10.1186/1824-7288-39-30

Published: 13 May 2013

Abstract

Aim

Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy for PD. Presently no data are available on the effects of ERT on dysphagia in PD patients. The aim of this work is to evaluate the course of this complication in a 6 years old boy affected by PD after treatment with ERT.

Methods

Dysphagia was assessed by Videofluoroscopic Swallowing Study (VFSS) at baseline, before the start of ERT and after 36 months of therapy. We used the Dysphagia Severity Rating Scale (DSS) to define the severity grade of dysphagia.

Results

VFSS performed at baseline revealed complete incoordination of oral stage swallowing which was classified as a grade 1 dysphagia according to DSS. After 36 months of treatment VFSS revealed normal swallowing, classified as grade 0 by DSS.

Conclusion

Our results suggest that ERT is effective in improving dysphagia. VFSS may be a useful tool to investigate and monitor swallowing disorders in patients affected by PD.

Keywords:
Glycogen storage disease type II; Deglutition disorders; Enzyme replacement therapy