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Laryngeal web with 22q11.2 deletion syndrome
Yasuhiro Abe1, Tomohiro Hirade1, Daisuke Koike1
1Department of Pediatrics, Shimane Prefectural Central Hospital, Shimane, Japan.
International Journal of Pediatrics & Adolescent Medicine
|September 12, 2022
Summary
This case report highlights a neonatal laryngeal web associated with 22q11.2 deletion syndrome. Early diagnosis and intervention are crucial for infants with airway stenosis and congenital heart defects.
Area of Science:
- Medical Genetics
- Pediatric Otolaryngology
- Neonatology
Background:
- Laryngeal web is a rare condition causing airway stenosis with variable symptoms.
- Congenital heart disease and craniofacial features are common in infants with laryngeal web.
Purpose of the Study:
- To report a neonatal case of laryngeal web co-occurring with 22q11.2 deletion syndrome.
- To emphasize the importance of considering 22q11.2 deletion syndrome in neonates with laryngeal web and comorbidities.
Main Methods:
- Case presentation of a neonate with laryngeal web, ventricular septal defect, and craniofacial features.
- Endoscopic web incision and cardiac surgery were performed.
Main Results:
- The infant presented with dysphonia and was diagnosed with laryngeal web and 22q11.2 deletion syndrome.
- 30% of laryngeal web patients have 22q11.2 deletion syndrome, a common cause of congenital heart disease.
Conclusions:
- Laryngeal web can be associated with 22q11.2 deletion syndrome.
- 22q11.2 deletion syndrome should be considered in the differential diagnosis of neonates with laryngeal web and congenital heart disease.
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