AlBassam Bassam N, Al-Shammari Ahmad A, AlQahtani Saleh A, Hassan Elham
Department of Pediatrics, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Department of Paediatrics, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia.
Front Pediatr. 2022 May 20;10:907179. doi: 10.3389/fped.2022.907179. eCollection 2022.
Jejunoileal atresia (JIA) is one of the common etiologies of intestinal obtrusion in neonates. However, cases of concomitant ileal atresia and Hirschsprung disease (HD) rarely occur. We report the case of a male infant who had JIA concomitantly with HD that was re-anastomosed. The patient underwent an exploratory laparotomy to resect the dilated terminal ileum. Subsequently, owing to a significantly dilated proximal bowel, he underwent a second exploratory laparotomy. However, he continued to have feeding intolerance postoperatively. He had colonic aganglionosis and was diagnosed with HD. A third laparotomy was then performed. Additionally, he had recurrent episodes of gram-negative bacteremia, especially , despite receiving antibiotics and antifungal, and there were no identifiable underlying genetic or immunological causes. Finally, the patient had recurrent episodes of hypoglycemia, central hypothyroidism, and multiple organ failure and died at the age of 7 months. The concomitant ileal atresia and HD was thought to be due to a common intrauterine vascular accident, together with loss of bowel, thereby acting as a barrier for the caudal migration of neuromeric cells and leading to colonic aganglionosis. In this case, ileal atresia was associated with colonic aganglionosis, central hypothyroidism, and persistent bacteremia, which is a unique finding. In cases of JIA, persistent poor bowel function after surgical correction of concomitant HD should be considered.
空肠回肠闭锁（JIA）是新生儿肠梗阻的常见病因之一。然而，回肠闭锁合并先天性巨结肠（HD）的病例很少见。我们报告了一例同时患有JIA和HD且接受了再次吻合术的男婴病例。该患者接受了剖腹探查术以切除扩张的回肠末端。随后，由于近端肠管明显扩张，他又接受了第二次剖腹探查术。然而，术后他仍存在喂养不耐受的情况。他被诊断为结肠无神经节症和HD。于是进行了第三次剖腹探查术。此外，尽管接受了抗生素和抗真菌治疗，他仍反复发生革兰氏阴性菌血症，尤其是没有可识别的潜在遗传或免疫原因。最后，该患者反复出现低血糖、中枢性甲状腺功能减退和多器官功能衰竭，并于7个月大时死亡。回肠闭锁与HD并存被认为是由于共同的宫内血管意外，以及肠管缺失，从而成为神经节细胞向尾端迁移的障碍，导致结肠无神经节症。在本病例中，回肠闭锁与结肠无神经节症、中枢性甲状腺功能减退和持续性菌血症相关，这是一个独特的发现。对于JIA病例，应考虑在同时合并HD的手术矫正后肠道功能持续不良的情况。
