摘要目的 了解神经节细胞减少症引起新生儿肠梗阻的诊断与治疗.方法 回顾性分析在新生儿期发生肠梗阻的11例神经节细胞减少症患儿的临床表现、术前检查及诊疗经过,并对预后进行评价.结果 6例Ⅰ期巨结肠根治术患儿中,术前行钡灌肠X线检查,4例可见狭窄段及扩张段,5例24 h钡剂排空差;肛管直肠测压检查显示,5例出现直肠肛管抑制反射,但反射阈值高于正常;直肠黏膜活检乙酰胆碱酯酶阳性4例.5例造瘘患儿,3例行Ⅱ期根治术,2例行关瘘术.所有息儿均根据术后病检结果进行诊断.所有患儿术后没有出现伤口裂开、便秘复发及大便失禁情况.结论 神经节细胞减少症可以引起新生儿肠梗阻,病检是诊断本病的可靠方法.肠造瘘解除急性肠梗阻后,如果肠道功能恢复可直接关瘘;否则需行巨结肠根治术才能达到良好的治疗效果.

abstractsObjective To investigate the diagnostic and therapeutic methods for neonatal intesti-nal obstruction caused by hypoganglionosis. Methods A retrospective analysis of 11 cases with hy-poganglionosis identified by the pathological examination after operation, who suffered obstruction in the neonatal period, was carried out. The data included clinical presentations, barium enema, anorec-tal electromanometry and histochemical staining for acetylcholinesterase (ACHE). Results Out of 6 cases underwent primary radical operation, the narrow and distention segments were noted in 4 pa-tients by barium enema, and barium stagnation over 24 hours was observed in 5 patients; the electro-manometric examination showed recto-anal inhibition reflex (RAIR) appeared in 5 patients; 4 patients were positive in AChE histochemical staining of rectal mucosal biopsy. Out of 5 cases underwent en-terostomy in the neonatal period, 3 children underwent staged radical operation and 2 underwent isola-ted intestinal anastomosis. All cases were diagnosed by the pathological examination. All patients re-covered without wound dehiscence, intestinal fistula, constipation recurrence or fecal incontinence. Conclusions Neonatal intestinal obstruction can be caused by hypoganglionsis. Pathological examina-tion is a reliable method for the diagnosis of hypoganglionosis. Isolated intestinal anastomosis can he taken if intestinal peristalsis function recovers after intestinal obstruction is cured by enterostomy. Otherwise, resection of the pathological segment of bowels and colorectostomy is an effective treat-ment.