神经节细胞减少症引起新生儿急性肠梗阻的诊治

The diagnosis and treatment of neonatal intestinal obstruction caused by hypoganglionosis

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24h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。所有患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。

Objective To investigate the diagnostic and therapeutic methods for neonatal intestinal obstruction caused by hypoganglionosis. Methods A retrospective analysis of 11 cases with hypoganglionosis identified by the pathological examination after operation, who suffered obstruction in the neonatal period, was carried out. The data included clinical presentations, barium enema, anorectal electromanometry and histoehemical staining for acetylcholinesterase （ACHE）. Results Out of 6 cases underwent primary radical operation, the narrow and distention segments were noted in 4 patients by barium enema, and barium stagnation over 24 hours was observed in 5 patients; the electromanometric examination showed recto-anal inhibition reflex （RAIR） appeared in 5 patients; 4 patients were positive in AChE histochemical staining of rectal rnucosal biopsy. Out of 5 cases underwent en- terostomy in the neonatal period, 3 children underwent staged radical operation and 2 underwent isolated intestinal anastomosis. All cases were diagnosed by the pathological examination. All patients recovered without wound dehiscence, intestinal fistula, constipation recurrence or fecal incontinence. Conclusions Neonatal intestinal obstruction can be caused by hypoganglionsis. Pathological examination is a reliable method for the diagnosis of hypoganglionosis. Isolated intestinal anastomosis can be 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 treatment.