A rare case of Adult Hirschsprung's Disease treated with subtotal colectomy

Abstract

Hirschsprung disease (HSCR) is a congenital gastrointestinal disorder caused by enteric nervous system (ENS) developmental abnormalities, characterized by aganglionosis in the distal intestinal tract and subsequent functional obstruction. Adult-onset HSCR is extremely rare, with atypical symptoms, often leading to long-term misdiagnosis. This study reports the diagnosis and management of a 26-year-old male patient with adult HSCR who presented with chronic constipation lasting three to five years, recent symptom exacerbation, and severe malnutrition. Clinical evaluations, including abdominal computed tomography (CT), revealed extensive colonic dilatation from the cecum to the mid-sigmoid colon with massive fecal retention. Systematic differential diagnosis excluded common causes of chronic constipation, such as functional constipation (FC), irritable bowel syndrome with constipation (IBS-C), slow-transit constipation (STC), drug-induced constipation, hypothyroidism, and colorectal neoplasm. Due to the patient's critical condition with risks of progressive obstruction and perforation, open surgical exploration was prioritized over preoperative diagnostic tests like anorectal manometry and rectal suction biopsy—the gold standard for HSCR diagnosis (typically demonstrating aganglionosis with hypertrophic nerve trunks). A staged surgical approach was adopted, involving initial subtotal colectomy with end-ascending colostomy for decompression and intra-abdominal lavage, followed by intestinal reconstruction with end-to-end anastomosis six months later. The patient's preoperative body mass index (BMI) was 16.6 kg/m², indicating severe underweight, and this improved to 18.3 kg/m² before the second-stage surgery. Postoperative pathological examination of the resected specimen confirmed the presence of a narrowed aganglionic segment and a dilated ganglionic segment, validating the diagnosis of HSCR. The patient recovered uneventfully without short-term complications, achieving regular bowel function and stable nutritional status (BMI 18.1 kg/m²) during follow-up, with abdominal ultrasound confirming unobstructed anastomotic function. This case highlights the diagnostic and therapeutic challenges of adult HSCR with severe systemic and anatomical involvement, aiming to enhance clinicians' awareness of such complex presentations and reduce misdiagnosis and missed diagnosis.