Results of orthodontic procedure in a patient with classic infantile Pompe disease

TL;DR

Orthodontic treatment improved speech and swallowing in a child with Pompe disease, highlighting the benefits of early orthodontic care for such patients.

Contribution

Demonstrates that orthodontic intervention can improve functional outcomes in children with Pompe disease despite orofacial muscle weakness.

Findings

Rapid maxillary expansion improved speech intelligibility and swallowing in a 7-year-old with Pompe disease.

Early orthodontic care can enhance quality of life in patients with residual orofacial muscle weakness.

Variability in orofacial characteristics suggests the need for individualized orthodontic approaches in Pompe disease.

Abstract

Pompe Disease is a rare lysosomal storage disorder. Although enzyme replacement therapy (ERT) has significantly extended the lifespan and improved motor function in these patients, residual orofacial muscle weakness remains as a considerable burden by affecting speech and swallowing.

A 7-year-old girl with classic infantile Pompe disease presented with speech and swallowing difficulties. Hypernasality made intelligibility difficult. Orthodontic evaluation revealed mild anterior open bite, atypical swallowing patterns, and maxillary transverse deficiency. Radiographic assessments confirmed a Skeletal Class I relationship and the absence of all third molars. Rapid maxillary expansion was performed to correct this condition. Post-treatment, the patient showed significant improvements in speech and swallowing.

While developing a standardized technique may not be feasible at present due to the variations in orofacial characteristics among children with Pompe Disease, incorporating orthodontic care early in its management can significantly improve functional and quality-of-life outcomes for these patients.

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