ArticleItalian journal of pediatrics2025
Results of orthodontic procedure in a patient with classic infantile Pompe disease.
Article in Italian journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPompe 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. CASE PRESENTATION: 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.
conclusionWhile 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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