VACTERL-associated bilateral bronchial stenosis with concomitant spinal
muscular atrophy
Abstract
VACTERL association is linked to multiple congenital anomalies including
tracheoesophageal fistula. In rare cases, VACTERL has been complicated
by other airway malformations including severe bronchial stenosis or
unilateral pulmonary agenesis. We report a child who developed episodes
of oxygen desaturation during sleep associated with high pressure
support requirements to maintain ventilation. He was known to have
VACTERL association as well as spinal muscular atrophy (SMA) type II, a
genetic neuromuscular disorder. Children with SMA can show progressive
respiratory symptoms, including intercostal muscle weakness and
accompanying paradoxical abdominal breathing with sparing of diaphragm
function. Our patient was very difficult to ventilate non-invasively
despite high pressures. CT chest with dynamic airway evaluation showed
bilateral bronchial stenosis. High inspiratory pressures with
non-invasive ventilation as seen in our case are required to overcome
stenotic airways but are not expected in neuromuscular respiratory
failure.