Introduction:
VACTERL association is linked to multiple congenital anomalies including vertebral anomalies (V); anal atresia or anogenital malformations (A); cardiac malformations (C), tracheoesophageal fistula (TE) with or without esophageal atresia; renal-urinary (R) and limb (L) anomalies.1 Although there is no consensus regarding specific diagnostic criteria for VACTERL association, most clinicians require at least two or three of the above features to be present1,2 with tracheoesophageal fistula (TEF) and anogenital malformations being the most common malformations.3,4 The term “association” is applied as there is no causative gene or environmental exposure linked to this disorder.
Tracheoesophageal fistula (TEF) occurs in 60-80% of children with VACTERL association.3,4 In rare cases VACTERL has been complicated by severe bronchial stenosis5,6 or unilateral pulmonary agenesis.7
We report a child who developed episodes of oxygen desaturation during sleep. He was known to have VACTERL association as well as spinal muscular atrophy (SMA) type II, a genetic disorder associated with biallelic SMN1 variants. While children with SMA can show progressive respiratory symptoms, he was very difficult to ventilate non-invasively despite high pressures.8 As he was a high-risk patient for flexible bronchoscopy with anesthesia, a CT chest with dynamic airway evaluation was done which showed bilateral bronchial stenosis.