Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team

Treacher-Collins syndrome (TCS) is a rare anomaly involving the first and second pharyngeal arches, resulting in structural anomalies to the bones and soft tissue in the region of the face, including the ears and pharynx. Due to the peculiarities of the face and pharynx, this condition presents an interesting challenge to the pediatric anesthetist. Anorectal malformation (ARM) is one of the most common causes of neonatal intestinal obstruction requiring emergency surgery. To our knowledge, there is no known association between TCS and ARM, and no reports of both conditions occurring in the same patient. We present a case of TCS in a child with ARM, highlighting the challenges of surgical and anesthetic management in such neonates, particularly the need for securing the airway in a low-resource setting. A 2.3-kg, three-hour-old neonate with distinctive facial anomalies, including poorly developed external ears, telecanthus, a flat nasal bridge, a high-arched palate, and an absent anal opening, was diagnosed with a high ARM without fistula. A decision was made to pursue staged management of the ARM, with initial colostomy creation. However, surgery was delayed until the sixth day due to repeated failed attempts at intubation. This necessitated the use of general anesthesia delivered via facemask, given the limitations of the setting. This case highlights the challenges posed by mandibulofacial anomalies causing difficult intubation, as seen in TCS, which are further compounded by the need for emergency surgery in neonates. Additionally, we draw attention to the rare occurrence of ARM in a child with TCS.