Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome

J Neonatal Perinatal Med. 2021;14(1):67-74. doi: 10.3233/NPM-200450.

Abstract

Background: Bilateral choanal atresia in patients with CHARGE syndrome becomes symptomatic immediately after birth. A prompt diagnosis, the implementation of sufficient preliminary measures, and the delivery of surgical therapy are crucial. This article is intended to assist in terms of diagnostics and a therapy recommendation.

Methods: We performed a retrospective study using the medical records of all newborns in the University Hospital in Bonn, diagnosed with bilateral choanal atresia and CHARGE syndrome and underwent surgery at the Department of Otorhinolaryngology, Head and Neck Surgery.

Results: A total of 21 patients have been treated with a unilateral or bilateral choanal atresia. 14 patients were primarily treated with transnasal endoscopy or underwent transnasal endoscopic surgery as a follow-up intervention (73.68%). Nine patients had a syndromal appearance, which was considered a definite diagnosis in six patients (five with CHARGE syndrome). All five patients with CHARGE syndrome received transnasal endoscopic treatment and a stent was inserted.

Discussion: Bilateral choanal atresia can be a life-threatening situation requiring acute measures. The therapeutic trend goes towards transnasal endoscopic resection. Primary intervention should be: minimally invasive, one-stage surgery, functional, and associated with low complication rates. Patency can be increased by saline irrigations, topical corticosteroids, endoscopic controls, and regular dilatation. The insertion of stents is controversially discussed but can be useful in syndromal patients. However, adjuvant therapy with a stent and mitomycin C is increasingly being abandoned. A significantly higher recurrence rate must be expected in association with CHARGE syndrome. Stenting should be considered on an individual basis. Continuous training and support of the parents are obligatory.

Keywords: CHARGE syndrome; choanal atresia bilateral; dyspnoea children; nasal stents; newborn.

MeSH terms

  • CHARGE Syndrome / complications
  • CHARGE Syndrome / diagnosis*
  • CHARGE Syndrome / physiopathology
  • CHARGE Syndrome / surgery*
  • Choanal Atresia / complications
  • Choanal Atresia / diagnosis*
  • Choanal Atresia / physiopathology
  • Choanal Atresia / surgery*
  • Endoscopy / methods
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Recovery of Function
  • Stents*
  • Treatment Outcome