PC2170: Gastroschisis with Atypical Concurrent Rotational Airway Anomalies

Introduction: Gastroschisis is an increasingly common birth defect defined by the herniation of abdominal viscera through the abdominal wall without a membranous covering. This typically isolated birth defect has recently gained increasing interest in the medical community as the prevalence has significantly increased, recently reported in 2.6 to 5.1 per 10,000 live births. While the pathogenesis remains unknown, it has been linked to early failure of yolk sack structure incorporation. Here we present a case of neonatal gastroschisis with concomitant airway anomalies not previously described in literature.

Case Description: Our patient is a former preterm infant female born at 33+4 gestational age via caesarian section for poor biophysical profile and decreased fetal movement with prenatally diagnosed gastroschisis. Her delivery was complicated by poor respiratory effort and gastroschisis with herniation of stomach, small bowel, and fallopian tubes just right of midline. At delivery, she was intubated for apnea and underwent silo placement by pediatric surgery. Her gastroschisis was surgically repaired on day of life (DOL) two and she extubated shortly thereafter. Her NICU course was otherwise unremarkable with discharge on DOL 58. The infant was thriving prior to six months when she had two separate, close proximity, admissions to the pediatric ICU due to viral illnesses with rapid respiratory decompensation requiring non-invasive ventilatory support. While in the ICU she was noted to have biphasic stridor and significant coughing and choking with feeds concerning for aspiration. All oral feeds were discontinued and nasogastric tube feeds were initiated. Airway evaluation revealed severe tracheomalacia with 60% collapse and multi-level luminal narrowing with clockwise mal-alignment of her tracheal rings seen on bronchoscopy (Figure 1). A CT angiography of the chest further noted positional anomaly of her airway and esophagus which were aligned side by side (Figure 2), as well as possible complete cartilaginous ring at the level of the mid-trachea. Parenchymal disease was also present, consistent with ongoing occult airway aspiration. The infant went on to receive multidisciplinary care by the aerodigestive team, ultimately requiring surgical placement of a gastrostomy tube due to ongoing secondary airway aspiration.

Discussion: Gastroschisis is typically a self-isolated birth defect with co-occurring non-syndromic defects occurring in only 10-15% of cases. This novel concurrent anomaly of the airway raises the question whether the herniation of abdominal contents including the stomach led to a rotational defect of the trachea and esophagus which share an embryologic origin. The occurrence of this airway anomaly has significantly complicated the patient’s course as this predisposed our patient to respiratory compromise and chronic aspiration in the setting of her gastroesophageal reflux, a known sequelae of gastroschisis.

Conclusion: This case further highlights the importance of recognizing the possibility of concurrent congenital anomalies leading to complex clinical courses for gastroschisis patients.