Suspicion diagnostic of Hirschsprung's disease in an adult intraoperatively: A case report.

Background: Hirschsprung disease, a developmental disorder affecting the neuronal ganglion cells in distal colon, is the leading cause of intestinal obstruction in newborns, predominantly males, although the diagnosis can be made lately in rare cases. We describe an adult Hirschsprung disease case found intraoperatively.

Case Description: He is a 20-year-old male patient with past medical history of epilepsy, psychomotor delay and recently a perineal perforating injury, admitted in the emergency room with initial diagnosis of peritonitis by perforated viscus with Frankel grad B spinal cord injury. Among his initial signs and symptoms were abdominal distension, rebound tenderness, decreased bowel sounds and diffuse pain. Laboratory tests revealed increased Hb, decreased white cells count and increased creatinine level. Initial management included: fluid resuscitation, analgesics, antibiotics and laxatives. After becoming hemodynamically unstable, the patient was introduced to the operating room where a highly dilated rectum with areas of necrosis at the base was discovered after access to the abdominal cavity. While doing the intervention, the patient experienced 3 cardiac arrests following by successful ressucitation and blood transfusion; leading to the decision to delay the definitive closure using the Bottega technique. The surgical course was unfavorable as the patient died around 4 hour post-surgery.

Conclusion: Hirschsprung disease in adult, due to its rarity and its overlapping features with many other conditions that can affect the GI system, can be misdiagnosed or discovered lately. A thorough evaluation by an appropriate specialist is essential for adequate diagnosis and management.