A Case of Applying a Palatal Lift Prosthesis to a Child with the Juvenile Form of Late-onset Pompe Disease with Dysarthria

Abstract

Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid α-glucosidase. There are two forms of the disease：infantile-onset Pompe disease (aged <1 year) and late-onset Pompe disease (>1 year of age through to adulthood). The present case was a patient with the juvenile form of late-onset Pompe disease. Enzyme replacement therapy (ERT) improved the disease symptoms except for lingual weakness, dysarthria and velopharyngeal insufficiency.

Therefore, we applied a palatal lift prosthesis (PLP) to the patient. It was necessary to reduce or eliminate the gag reflex by systematic desensitization to fit the PLP, which took 7 months to get accustomed to. At present, the gag reflex is absent and the prosthesis is used in daily life, and has clearly improved the patient’s articulations, particularly /p/ and /s/.

In conclusion, PLP is a useful tool to improve the outcomes in patients with Pompe disease with dysarthria under ERT. Further long-term studies are necessary to confirm the application of PLP in patients with Pompe disease with dysarthria under ERT.