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Case Reports
. 2025 Jul 15;51(1):231.
doi: 10.1186/s13052-025-02023-6.

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

Carla Maria Grimaldi  1   2 , Daniela D'Alessandro  3 , Martha Caterina Faraguna  1   2 , Andrea Boggio  3 , Giulia Caldara  3 , Silvia Barzaghi  2 , Roberta Pretese  2 , Viola Crescitelli  2 , Serena Gasperini  4
Affiliations
Case Reports

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

Carla Maria Grimaldi et al. Ital J Pediatr. .

Abstract

Background: 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.

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.

Conclusion: 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.

Keywords: Classic infantile Pompe disease; Hypernasality; Orthodontics; Pompe disease; Velopharyngeal incompetence.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: The legal guardians of the patient provided written consent for the scientific publication of photos, clinical and genetic information. Competing interests: The authors have no conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1
Left: before treatment (7 years old); Center: The Rapid Palatal Expander (RPE); Right: After treatment
See this image and copyright information in PMC

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