eP645 - Colonic Atresia and Hirschsprung’s Disease in a Neonate: A Case Report

Purpose/Background: The purpose of the case report is to discuss the presentation and surgical management of the rare clinical entity of concomitant colonic atresia and Hirschsprung's disease. We hypothesize that proper management can decrease post-operative morbidity and improve long term gastrointestinal function of these patients.Methods/Interventions: A 2-day-old female was born at 38 weeks and 1 day with limited prenatal care. Maternal drug screen was positive for fentanyl and amphetamines along with reported THC and tobacco use. She was found to have colonic atresia on contrast enema after emesis and failure to pass meconium.Results/Outcomes: Abdominal exploration revealed a blind ending cecum with evidence of ischemia along with an atretic transverse colon. An ileocecectomy with end ileostomy and transverse colon mucous fistula creation were performed. After eventual ileostomy reversal, she struggled with intermittent oral intolerance and inconsistent bowel function. Re-exploration with ileostomy and gastrostomy tube placement was performed with additional biopsies revealing Hirschsprung’s disease.Conclusion/

Discussion: Colonic atresia, although a rare entity in isolation, can present a significant dilemma for surgeons. Prompt diagnosis of colonic atresia, which often leads to proximal obstruction, can have significant affects on patient morbidity and mortality. Further complicating care is the presence of concomitant pathology such as Hirschsprung’s disease - which is often diagnosed in a delayed fashion. One review showed the average age at diagnosis of Hirschsprung’s disease in patient’s with colonic atresia to be 8 months. Due to the delay in diagnosis, the most commonly cited reason for discovering Hirschsprung’s disease has been clinical deterioration in the form of anastomotic breakdown following a previous ileo-colonic or colo-colonic anastomosis. The potential for anastomotic leak, obstruction, or sepsis places these patients at significant risk of post-operative complications and need for re-operation. One factor that can predict the presence of Hirschsprung’s disease in these patients is abnormal or improper fixation of the colon distal to the atretic segment. Recommendations include biopsy of any abnormal or “malfixed” colonic segment at the time of surgery.

Our patient presented a unique diagnostic challenge as 1) maternal polysubstance use provided a known etiology for her colonic atresia and 2) biopsies of the distal colonic segment at the index operation showed the presence of ganglion cells. She also appeared to have normal fixation of the colonic segment distal to the atresia, suggesting Hirschprung’s disease may have been less likely. Fortunately, her hospital course was not complicated by clinical instability, but rather a lack of consistent bowel function and expected clinical progress, prompting eventual rectal suction biopsy and a formal diagnosis of Hirschsprung’s disease. This was managed by subsequent end ileostomy and gastrostomy tube placement with plans to determine eligibility for a definitive pull through operation at a later date.

Clinical suspicion for associated anomalies with colonic atresia, including Hirschsprung’s disease must remain high, particularly in the case of deviation from an anticipated post-operative course. We recommend a low threshold for biopsy or repeat biopsy to avoid diagnostic confusion and the potential for repeat operations in a population at risk for peri-operative morbidity and mortality and lifelong issues with intestinal transit.Figure 1Contrast enema obtained prior to the index operation showing contrast termination in the mid transverse colon