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

Simona Fecarotta, Serena Ascione, Giuseppe Montefusco

    Italian Journal of Pediatrics
    |May 15, 2013
    PubMed

    Insights

    Enzyme replacement therapy (ERT) improved dysphagia in a Pompe disease patient. Videofluoroscopic Swallowing Study confirmed normal swallowing after 36 months of ERT.

    Area of Science:

    • Biochemistry
    • Neurology
    • Genetics

    Background:

    • Pompe disease (PD) is a rare metabolic myopathy caused by alpha-glucosidase deficiency.
    • Dysphagia is a common complication in PD, significantly impacting patient quality of life.
    • Enzyme replacement therapy (ERT) with alglucosidase alfa is the standard treatment for PD, but its effect on dysphagia is unknown.

    Observation:

    • A 6-year-old boy with PD presented with severe oral stage dysphagia (Grade 1).
    • The patient received ERT with alglucosidase alfa for 36 months.
    • Videofluoroscopic Swallowing Study (VFSS) was used to assess swallowing function at baseline and after treatment.

    Findings:

    • Baseline VFSS revealed complete incoordination of oral swallowing, graded as DSS Grade 1.
    • After 36 months of ERT, VFSS showed normal swallowing function, graded as DSS Grade 0.
    • ERT demonstrated a significant positive impact on swallowing ability in this PD patient.

    Implications:

    • ERT may be an effective treatment for dysphagia in Pompe disease patients.
    • VFSS is a valuable diagnostic and monitoring tool for swallowing disorders in PD.
    • Further research is warranted to confirm these findings in a larger cohort.
    Abstract

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