Tracheal agenesis is a severe congenital disorder with often an emergency presentation. There is acomplete or partial absence of the trachea below the larynx, with the presence or absence of atracheoesophageal fistula. It is a rare differential diagnosis of postnatal respiratory distress and theobstetrician or neonatologist will regularly be surprised by this malformation. The etiology ofTracheal atresia is unknown, therapeutic options are limited thus making this condition a usuallyfatal disorder. In most cases, congenital anomalies of the heart, digestive tract or GUT are present.The main signs are respiratory distress and cyanosis, inability to vocalize and impossible trachealintubation. Isolated tracheal agenesis without any malformation is very rare. Here we report a caseof a preterm neonate born at 33 weeks gestation with tracheal agenesis with no other associatedmalformation. In most cases, the seldom deformation, tracheal agenesis does not get recognizedbefore the child is born.
Pelizaeus-Merzbacher Disease as a Rare Cause of Stridor in an Infant with Severe Reflux and Hypotonia
