Navigating Diagnostic Challenges of Intestinal Atresia. Case Report

Introduction Intestinal atresia represents a range of congenital malformations resulting in a blockage in the intestine, occurring in about 1 in 5000 - 14000 live births, and only 12% are cases of ileal atresia [1]. This case shows challenges that arise in diagnosing ileal atresia. Case Presentation A 1-day-old male newborn presented with vomiting and not passing stool since birth. An initial X-ray showed enlarged intestinal lumens (small intestine 1.2 cm, ascending colon 2.3 cm), with a laterogram indicating several fluid-air surfaces. An enema resulted in “meconium” discharge. Persistent symptoms raised suspicions of intestinal obstruction. An oral water-soluble contrast X-ray revealed only stomach filling before vomiting, delaying diagnosis. Repeated X-rays showed air-filled small intestines and dilated loops. A retrograde contrast enema allowed the contrast to fill the colon. After investigations, small bowel atresia was suspected and emergency laparotomy was performed. During laparotomy, complete atresia was found about 30 cm from the ileocecal angle. The procedure involved resection of the overstretched proximal section (10 cm) and the distal part (4 cm), followed by end-to-end primary anastomosis. The diagnosis was ileal atresia (type IIIA), the patient was discharged with follow-up care instructions. Discussion The main differential diagnoses for ileal atresia are internal hernia, Hirschsprung disease, and meconium ileus [2]. Despite its challenges, X-ray with contrast remains the main diagnostic approach. Surgery is required to treat ileal atresia. The survival rate of patients with this congenital malformation has significantly improved over time [3]. Conclusions This case emphasizes the necessity for accurate diagnostic methods and the challenges of diagnosing ileal atresia.