CAJ | 학술논문

目的总结儿童巨膀胱-小结肠-肠蠕动不良综合征的诊治体会.方法回顾性分析2012年6月至2014年6月首都医科大学附属北京儿童医院普外科收治的6例巨膀胱-小结肠-肠蠕动不良综合征患儿的临床资料,对其临床表现、影像学检查、诊治经过和预后情况进行分析.结果 6例患儿发病年龄均在1岁以内,表现为腹胀、便秘、呕吐症状,且无明显诱因及完全缓解方法.6例患儿均于胎龄24～28周可见胎儿腹腔内有一巨大囊性肿物(考虑膀胱),但羊水量不随膀胱内积水增多而减少.术前考虑为先天性巨结肠3例,术中发现乙状结肠及其远端直肠呈现明显的痉挛状态,肠壁苍白,近端结肠扩张、管壁增厚、水肿明显,弹性差,但肠管病理活检提示肠壁肌纤维增生变性,可见少量或正常的黏膜下及肌间神经节细胞.另3例因考虑消化道梗阻而行剖腹探查手术,术中证实1例为肠旋转不良,行Ladd's术,余者未见明确肠管反折、成角、粘连、纤维索带等因素导致的肠管梗阻,但肠管充气扩张,大量积液,肠管壁薄,减压后肠管呈现无应力状态,考虑为功能性肠梗阻,遂行回肠造瘘手术.术后均予以静脉营养支持治疗,以及红霉素、多潘立酮、新斯的明、中药中1种或多种药物联合治疗,患儿腹胀、便秘等症状未能得到完全缓解.术后1个月、3个月、6个月、1年、2年及3年随访结果提示,3例患儿仍存活,其中1例合并重度营养不良及多器官功能衰竭;另3例已死亡.结论巨膀胱-小结肠-肠蠕动不良综合征为一种临床易误诊误治的罕见疾病.常常误诊为肠梗阻或先天性巨结肠.本病患儿需要静脉营养维持治疗,但预后极差.目前认为唯一根治手段为肠移植.
목적 총결인동거방광-소결장-장연동불량종합정적진치체회.방법 회고성분석2012년6월지2014년6월수도의과대학부속북경인동의원보외과수치적6례거방광-소결장-장연동불량종합정환인적림상자료,대기림상표현、영상학검사、진치경과화예후정황진행분석.결과 6례환인발병년령균재1세이내,표현위복창、편비、구토증상,차무명현유인급완전완해방법.6례환인균우태령24～28주가견태인복강내유일거대낭성종물(고필방광),단양수량불수방광내적수증다이감소.술전고필위선천성거결장3례,술중발현을상결장급기원단직장정현명현적경련상태,장벽창백,근단결장확장、관벽증후、수종명현,탄성차,단장관병리활검제시장벽기섬유증생변성,가견소량혹정상적점막하급기간신경절세포.령3례인고필소화도경조이행부복탐사수술,술중증실1례위장선전불량,행Ladd's술,여자미견명학장관반절、성각、점련、섬유색대등인소도치적장관경조,단장관충기확장,대량적액,장관벽박,감압후장관정현무응력상태,고필위공능성장경조,수행회장조루수술.술후균여이정맥영양지지치료,이급홍매소、다반립동、신사적명、중약중1충혹다충약물연합치료,환인복창、편비등증상미능득도완전완해.술후1개월、3개월、6개월、1년、2년급3년수방결과제시,3례환인잉존활,기중1례합병중도영양불량급다기관공능쇠갈;령3례이사망.결론 거방광-소결장-장연동불량종합정위일충림상역오진오치적한견질병.상상오진위장경조혹선천성거결장.본병환인수요정맥영양유지치료,단예후겁차.목전인위유일근치수단위장이식.
Objective To explore the management strategies of megacystis-microcolon-intestinal hypoperistalsis syndrome in children.Methods Six cases of megacystis-microcolon-intestinal hypoperistalsis syndrome were recruited from Affiliated Beijing Children's Hospital, Capital Medical University from June 2012 to June 2014, the clinical features, radiological data, treatment options, pathological findings and prognosis were retrospectively analyzed.Results The diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome was confirmed by history, signs and exploratory laparotomy.Their onset age was all within 1 year.The major symptoms included abdominal distension, constipation and vomiting without specific predisposing factors or complete relieving method.On prenatal ultrasound, during 24-28 weeks' gestation, a giant bladder was visualized.There was a progressive and unexpected increase of amniotic fluid index.Three cases were diagnosed preoperatively as Hirschsprung's disease.Sigmoid colon and distal loops were spastic and intestinal wall was pale.Proximal colon expanded, thickened and became more edematous and less elastic.However, pathological examinations revealed that all neural and vascular structures appeared normal.And frozen biopsy revealed ganglion cells.The others underwent Soave surgery without frozen biopsy.The digestive tract obstruction was diagnosed for 3 cases.One case of congenital intestinal malrotation underwent Ladd's operation while the remainder showed no distinct intestinal obstruction.Inflated intestines with expansion and effusion were transformed into a stress-free state.Parenteral nutrition was offered along with erythromycin, domperidone and traditional Chinese medicine, etc.During the follow-ups, 2 cases required parenteral nutrition for sustaining life.One case had severe malnutrition with multi-organ failure.And 3 cases died from organ failure.Conclusions As a rare and frequently lethal disease, megacystis-microcolon-intestinal hypoperistalsis syndrome has a confusing spectrum of clinical presentations.It is often misdiagnosed as Hirschsprung's disease or intestinal obstruction.The prognosis remains worse despite daily parenteral nutrition.And the sole cure is intestinal transplantation.