Type IV laryngo-tracheo-esophageal cleft with CPAM in a preterm twin- a case report

Laryngo-tracheo-esophageal cleft (LTEC) is a rare congenital anomaly caused by incomplete separation of the foregut. Type IV defects are exceptionally rare and typically carry high mortality and morbidity despite surgical interventions.

We report a preterm neonate born at 34 + 1 weeks' gestation from a monochorionic diamniotic twin pregnancy. Antenatal ultrasound detected a large microcystic congenital pulmonary airway malformation (CPAM) with mediastinal shift, absent gastric bubble, and suspected esophageal pouch. Immediately upon birth, bedside ultrasound identified the affected twin. Direct laryngoscopy and intubation revealed a common tracheoesophageal lumen; flexible bronchoscopy confirmed a Type IV LTEC with absent posterior tracheal wall extending to the carina and communicating with the oesophagus. Selective intubation of the right bronchus provided temporary ventilation. CT thorax demonstrated a wide anomalous aero-digestive tract, intrathoracic stomach, and large CPAM. Surgical repair was deemed very high risk and disproportionately burdensome due to a composite of factors: severity of the type 4 cleft, associated significant pulmonary and gastrointestinal anomalies, low birth weight, and being a high risk ECMO candidate. Following multidisciplinary counselling, care was redirected to palliation.

This case highlights limitations of fetal imaging, the importance of early bronchoscopy for airway evaluation and stabilization, and the role of palliative care when extensive surgical correction carries risks of significant harm and may not serve in the best interest of the patient.