ĐÁNH GIÁ KẾT QUẢ ĐIỀU TRỊ BỆNH TẾ BÀO HẠCH THẦN KINH RUỘT CHƯA TRƯỞNG THÀNH TẠI BỆNH VIỆN NHI ĐỒNG 1

Abstract

Background: Immature enteric ganglion cell disease (IEGCD) is a rare variant of Hirschsprung’s disease, characterized by delayed maturation of enteric ganglion cells in the Auerbach and Meissner plexuses. Due to limited research and ongoing debate, clinical management remains controversial, particularly regarding follow-up timing, abdominal X-ray (AXR) after 24- and 48-hour contrast enema, and the optimal time for temporary ileostomy (TI) closure. Objective: To investigate the clinical and paraclinical characteristics, pre- and postoperative complications, and determine the appropriate timing for TI closure in pediatric patients with IEGCD. Methods: A retrospective case series was conducted on all pediatric patients diagnosed with IEGCD and discharged from Children's Hospital 1 between July 2016 and June 2025. Results: Seventy-six cases were included. Clinical symptoms typically presented in the neonatal period, with abdominal distension (97.4%), vomiting (67.1%), and delayed meconium passage (82.9%). All patients underwent TI surgery, with intraoperative colonic biopsy performed in 98.7% of cases. Follow-up was scheduled at 7–11 months of age or earlier if stool was observed at the anus or TI complications occurred. Anal stool passage was assessed in 61.8% of cases, while AXR after 24-hour and 48-hour contrast enemas was performed in 82.9% and 51.3% respectively to evaluate contrast evacuation and guide TI closure. No mortality was reported. Conclusion: IEGCD presents early in neonates and is diagnosed via intraoperative biopsy. Early TI closure (7–11 months) is recommended when no complications are present, based on anal stool passage and contrast evacuation findings.