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.