儿童节段性结肠神经节细胞减少症的临床特点及诊治分析

Clinical characteristics,diagnosis and treatment of segmental colonic hypoganglionosis in children

目的总结儿童节段性结肠神经节细胞减少症的诊治经验及治疗效果,探讨适宜的手术方式。方法收集2017年1月至2021年10月首都医科大学附属北京儿童医院普外科手术治疗的4例节段性结肠神经节细胞减少症患儿的相关资料。其中,男2例,女2例,无胎便排出延迟,均于学龄期出现便秘、腹痛、腹胀及呕吐症状。1例患儿于当地医院进行部分横结肠切除术,但手术后症状仍未缓解;1例患儿因"肠梗阻"于当地医院进行回肠造瘘。4例患儿中有2例入院时存在营养不良。所有患儿手术前进行肛门直肠测压及下消化道造影,手术治疗的同时进行肠壁多点全层活检。手术方式为结肠次全切除术。取切除的肠管近端、痉挛段及远端组织,通过苏木精-伊红染色及钙视网膜蛋白免疫组织化学染色进行病理检查。结果术前检查可见所有患儿存在直肠肛门抑制反射。下消化道造影结果显示患儿结肠形态一致,充盈相及排出相均显示降结肠-乙状结肠管腔节段性狭窄,近端横结肠明显扩张,移行段位于脾曲,远端直肠形态正常。患儿的肠道排钡缓慢,24 h后复查X线仍可见钡剂残留于扩张的横结肠中。患儿均顺利完成手术,围手术期无并发症发生,术后一般情况良好并顺利出院。切除的肠道组织经病理学检查,结果显示降结肠-乙状结肠狭窄段肠道肌间及黏膜下神经丛稀疏,神经丛内神经节细胞明显减少或缺如,部分神经节细胞发育不良。随访时间分别为15个月,13个月,7个月及13个月,患儿术后便秘及腹痛症状消失,营养状况改善,体重由25.0 kg、25.5 kg、44.0 kg、20.0 kg分别增长至47.5 kg、31.5 kg、44.0 kg、22.0 kg。结论节段性结肠神经节细胞减少症患儿肠道病变范围的确认应结合下消化道造影检查所示的肠道形态、肠壁多点全层活检及病理检查结果,手术单纯切除病变段肠道即可获得满意的预后。

Objective To summarize the experiences of diagnosis,treatment and outcome of segmental colonic hypoganglionosis in children and to explore the appropriate surgical approaches.Methods The relevant clinical data were retrospectively reviewed for 4 children with segmental colonic hypoganglionosis operated from January 2017 to October 2021.There were 2 boys and 2 girls without a delay of meconium excretion.The predominant symptoms included constipation,abdominal pain,abdominal distension and vomiting at school age.One child underwent partial transverse colectomy at a local hospital but the symptoms remained unrelieved after surgery;one child underwent ileostomy elsewhere due to suspected"intestinal obstruction".Two had malnutrition at admission.Anorectal manometry and lower gastrointestinal radiography were performed pre-operation.And multi-point full-thickness biopsy of intestinal wall was performed.During subtotal colectomy,the proximal,spastia and distal tissue were harvested for pathological examination by hematoxylin-eosin and calretinin immunohistochemical stains.Results Preoperative examination revealed the presence of rectoanal inhibitory reflexes.Lower gastrointestinal radiography indicated that colonic shape was consistent.During filling and expulsion phases,lumen of descending colon-sigmoid colon was narrow,transverse colon became significantly dilated,transitional segment was located in splenic flexure and shape of distal rectum was normal.Intestinal barium excretion was slow and radiological reexamination 24 h later still showed barium remaining in dilated transverse colon.All operations were completed successfully and there was no occurrence of perioperative complication.The patients recovered well and discharged smoothly.Pathological examination of resected intestinal tissue indicated that intestinal intermuscular and submucosal plexuses in stenotic segment of descending colon-sigmoid colon were sparse,ganglion cells declined markedly or disappeared in plexus and some ganglion cells were hypoplastic.The follow-up time was 15,13,7 and 13 months respectively.Constipation and abdominal pain disappeared postoperatively.With an improvement of nutritional status,body weight increased from 25.0,25.5,44.0 and 20.0 kg to 47.5,31.5,44.0 and 22.0 kg respectively.Conclusions Confirmed extent of intestinal lesions in children with segmental colonic hypoganglionosis should be combined with the results of intestinal morphology,full-thickness multi-point biopsy and pathological examination.Satisfactory outcomes may be obtained by a simple resection of diseased intestinal segment.