Bowel Perforation in a Patient with Pheochromocytoma, Multiple Endocrine Neoplasia Type 2B and Diffuse Intestinal Ganglioneuromatosis: A Case Report

Pheochromocytoma and intestinal ganglioneuromatosis are rare entities, associated with Multiple Endocrine Neoplasia Type 2B (MEN2B), but rarely associated with colonic pseudo-obstruction and ischemia. We report a 52-year-old patient who presented with colonic perforation and was later found to have all 3 pathologies concurrently. An exploratory laparotomy revealed toxic megacolon with rectosigmoid perforation requiring a total abdominal colectomy. Diffuse intestinal ganglioneuromatosis with no malignancy was reported by histopathology. Perioperative challenges included severe acidosis (pH 6.9) and supraventricular tachycardia requiring electrical and chemical cardioversion. Despite this, the patient was successfully managed with minimal vasopressor support (likely due to endogenous catecholamine release from his pheochromocytoma). This case of gastrointestinal emergency underlines the need for early recognition of comorbidities associated with MEN2B, and the importance of multidisciplinary care. This is the first case report describing bowel perforation in the context of MEN2B, pheochromocytoma, and intestinal ganglioneuromatosis.