CHOANAL ATRESIA

 Occurence:

• Most cases of choanal atresia are sporadic, although familial cases suggest autosomal dominant or autosomal recessive modes of a single gene defect.   
• Persistence of  bucconasal membrane

Clinical features

Most cases of choanal atresia are sporadic, although familial cases suggest autosomal dominant or autosomal recessive modes of a single gene defect. Approximately one-half to two-thirds of patients with choanal atresia have associated malformations, which occur more frequently with bilateral atresia. The most common of these is the CHARGE syndrome:

• Coloboma of the eye
• Heart malformations
• Choanal Atresia
• Retarded growth, development, or both
• Genital hypoplasia
• Ear malformations, deafness, or both

• Bony – 90%; membranous – 10%
• Unilateral atresia is more common
• Bilateral atresia presents with respiratory obstruction (new born – a natural nose breather, does not breath from mouth)

In some cases, this may present as cyanosis while the baby is feeding because the oral air passages are blocked by the tongue.

The cyanosis may improve when the baby cries, as the oral airway is used at this time.

These babies may require airway resuscitation soon after birth.

 Diagnostic features

• Mucoid discharge in the nose
• Absence of air bubbles in the nasal discharge
• Failure to pass a catheter from nose to pharynx(posterior rhinoscopy)

Investigated using CT scan

Treatment :

•  McGovern’s technique – feeding nipple with a large hole
•  Definitive treatment – surgical correction at one and half years

Exam Question

Clinical symptoms:

Persistence of  bucconasal membrane associated with CHARGE syndrome: