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Background <p>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.</p> Case presentation <p>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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月15日

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  • Carla Maria Grimaldi,
  • Daniela D’Alessandro,
  • Martha Caterina Faraguna,
  • Andrea Boggio,
  • Giulia Caldara,
  • Silvia Barzaghi,
  • Roberta Pretese,
  • Viola Crescitelli,
  • Serena Gasperini

摘要

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.