肠无神经节细胞症患儿术后肛门直肠测压的应用研究

目的：探讨经肛门 Soave 巨结肠根治术后患儿排便功能及直肠肛管测压的应用价值。方法回顾性分析经术后病理检查证实的61例肠无神经节细胞症（Hirschsprung＇s disease,HD）患儿临床资料,均行经肛门 Soave 巨结肠根治术,其中腹腔镜辅助手术16例。术后平均随访1年（3个月至2年）,根据手术年龄分为婴儿组（0～1岁）及幼儿组（1岁以上）。对患儿术后大便控制能力、并发症情况及肛门直肠测压结果进行比较。结果婴儿组术后排便控制情况与幼儿组比较,差异无统计学意义（P ＞0.05）。肛门直肠测压检查显示术前直肠肛管抑制反射总阴性率为95.1％（58／61）,术后均未恢复;两组直肠静息压、肛管静息压比较,差异无统计学意义（P ＞0.05）。结论经肛门 Soave 巨结肠根治术治疗小儿肠无神经节细胞症,术后可获得良好的排便控制功能,可作为首选术式;肛门直肠测压的术前诊断价值较高,术后短期随访作用有限。     

经肛门Soave巨结肠根治术后排便功能的评价

目的 观察经肛门Soave巨结肠根治术后排便功能和结肠切端缩口缝合术的效果.方法 回顾性分析2003年10月至2008年10月130例经肛门Soave巨结肠根治术患儿的术后排便功能恢复情况. 结果 130例中98例行经肛门根治术,32例因长段型和直肠乙状结肠呈直筒状行腹腔镜协助经肛门根治术,其中15例因近端结肠切端扩张与肛门口径大小不符行结肠切端缩口缝合后再行肛门结肠吻合.130例术后电话和信件获访90例,远期并发症3例,其中污粪2例,便秘合并小肠结肠炎1例.对术后恢复时间达3年以上的56例患儿进行排便功能评分,评分为正常组有23例,优组31例,良组2例,无差组病例.行结肠切端缩口缝合术的15例患儿全部获访,排便功能评分正常组6例,优组9例,无并发症.结论 经肛门Soave巨结肠根治术后长期肛门排便功能恢复满意.扩张但功能良好的近端结肠切端管径大于肛门口径时,可行结肠切端缩口缝合术.结肠切端缩口缝合术疗效确切,可与腹腔镜技术协同成为经肛门巨结肠手术的辅助手段.     

腹腔镜辅助技术在先天性巨结肠手术中的应用价值

目的探讨腹腔镜辅助技术在不同类型先天性巨结肠手术中发挥的作用。方法159例先天性巨结肠患儿接受手术治疗。短段型25例，常见型114例，长段型20例。其中单纯经肛门Soave拖出手术32例；腹腔镜Soave-Georgeson手术70例；腹腔镜直肠肛管背侧纵切心形吻合术57例。主要观察手术过程、手术时间、住院费用、并发症、术后排便功能。结果在短段型和常见型患儿，经肛门Soave手术时间与腹腔镜Soave-Georgeson手术和腹腔镜直肠肛管背侧纵切心形吻合术时间相同，但肛门解剖时间前者比后两者明显长。腹腔镜组住院费用比经肛门Soave手术组高，术后并发症、排便优良率、直肠肛管反射恢复率、肛管静息差、肛管高压区长度均无明显差异。长段型患儿腹腔镜Soave-Georgeson手术和直肠肛管背侧纵切心形吻合术均明显比经肛门Soave手术时间长、住院费用高，但腹腔镜操作不可缺少。结论对于短段型和常见型巨结肠根治术，常规应用腹腔镜没有必要，但腹腔镜辅助经肛门拖出手术是更全面的技术，能显著缩短肛门解剖时间，游离更长的病变结肠，更容易判断无神经节细胞肠段范围，观察结肠肛门吻合后肠管是否扭转、腹腔出血等。     

经肛巨结肠根治术后患儿的肛肠功能评价

目的：经肛门巨结肠一期根治术近期效果好,但术后患儿的肛肠功能目前尚不十分清楚。该文旨在评估患儿术后的排便模式,结肠和肛门括约肌功能。方法：对58例经肛门巨结肠根治术后半年以上儿童进行随访,随访时间为15.8 月 (6～24 月)。并进行排便功能问卷调查、钡灌肠、结肠传输时间和肛门直肠测压检查。33例正常儿童作为对照。结果：大多数随访患儿排便正常,无任何临床症状。４例出现稀便便频,9例污便,5例便秘,3例小肠结肠炎。钡灌肠结果显示大多数随访患儿结肠形态恢复良好。全部病例术后直肠肛管角（度）较对照组显著开大,有症状组较无症状组显著开大。58例随访患儿的平均全胃肠、左半结肠和右半结肠传输时间较术前显著缩短,与对照组相比差异无显著性意义。直肠肛管反射5例阳性。便秘组的肛管最大静息压和最大收缩压明显高于无症状组和对照组。污便组向量容积和对称指数较对照组显著降低。便秘组对称指数显著高于对照组。结论：经肛门巨结肠根治术后大多数患儿排便功能、结肠功能和括约肌功能良好。少数病例排便功能障碍可能与术后乙状结肠曲减少或消失、“新直肠”储便功能代偿不全和拖出结肠致直肠肛管角开大、肛门括约肌痉挛失弛缓有关。［中国当代儿科杂志,2007,9（3）：188-192］     

改良Soave术治疗婴儿和新生儿先天性巨结肠27例

目的总结改良Soave根治术治疗婴儿和新生儿先天性巨结肠的手术体会。方法对27例10d￣3个月的先天性巨结肠患儿行改良Soave根治术,其中14例常见型巨结肠经肛门直接拖出,4例因根治术前肠穿孔行结肠造瘘术。腹部不切开肠管亦不剥离肌鞘,而是转至会阴部操作,保留肌鞘后壁距齿状线0.5cm,前壁距齿状线2￣3cm。结果术后无内括约肌征候群及肌鞘感染,每月随访1次,无便秘、腹胀及失禁现象,大便控制良好。结论改良Soave根治术应用于小婴儿和新生儿先天性巨结肠,创伤小,恢复快,减轻了患儿痛苦,术后可获得良好的排便控制功能,近期疗效满意。     

先天性巨结肠术后直肠肛管向量测压的研究

目的：应用直肠肛管向量测压技术评估先天性巨结肠患儿术后肛门括约肌功能。方法：利用直肛管向量测压技术，对42例先天性巨结肠患儿术后及21例正常儿进行肛门括约肌功能的评估。结果：根据临床症状将患儿分为污便组、便秘组和排便功能良好组。巨结肠患儿术后肛管静息压力及向量容积均显著低于正常儿（P＜0．01），污便组的静息压力及向量容积明显低于排便功能良好组，对称指数无明显变化，14．3％恢复了直肠肛门抑制反射。结论：先天性巨结肠患儿术后肛管最大压力及向量容积下降。直肠肛管向量测压技术是评估先天性巨结肠患儿术后肛门括约肌功能较客观全面的方法。     

腹腔镜改良Soave巨结肠根治术后排便功能的随访

目的　评价腹腔镜改良Soave根治术后患儿排便控制情况。方法　自 1999年 5月～2 0 0 1年 9月 ,对 6 4例年龄为 10d～ 1岁的先天性巨结肠患儿行腹腔镜改良Soave巨结肠根治术。术后定期随访患儿 ,平均随访时间为 (2 3.8± 1)个月 ,对患儿大便控制能力、便秘及结肠炎的发生率进行评价。结果　获访 4 3例患儿。大便控制评分正常 (10分 ) 2 2例 ,好 (6～ 9分 ) 18例 ,欠佳 (1～ 5分 )3例 ;1例患儿 (2 .3% )有持续便秘 ;5例 (11.6 % )患儿曾出现结肠炎。结论　应用腹腔镜改良Soave巨结肠根治术治疗新生儿及小婴儿先天性巨结肠 ,术后可获得良好的排便控制功能。     

扩肛治疗在婴幼儿便秘及巨结肠根治术后的应用研究

目的评估扩肛治疗在婴幼儿便秘以及巨结肠根治术后处理中的疗效。方法对60例功能性便秘婴幼儿(为便秘治疗组)和60例经肛门巨结肠根治术后1个月的患儿(经肛门巨结肠根治术组)运用本院专利扩肛器分别行扩肛治疗,并进行排便功能问卷调查、结肠钡灌肠和肛门直肠测压检查,对扩肛前后肛肠功能进行综合评价。结果便秘治疗组60例经过扩肛治疗后,50例便秘消失(每日均排大便);8例便秘好转(偶有停止排便2~3 d,干预后恢复);2例无效;复查结肠钡灌排空延迟,RAIR阴性率、肛管蠕动波紊乱较扩肛前明显减少(P0.01)。经肛门巨结肠根治术(Soave)组60例于术后1个月行扩肛治疗,随访6个月后,42(70%)例排便次数逐渐减少至每日1~2次,复查钡灌排空延迟,RAIR阴性率、肛管蠕动波紊乱较扩肛前明显减少(P0.05)。结论扩肛治疗对于婴幼儿功能性便秘而言,可以建立反射,刺激便意;促进蠕动,缓解肛压;阻断肠神经元病变的继续发展。对于巨结肠根治术后患儿而言,可以扩开瘢痕,使排便通过无阻力;促进新建直肠顺应性恢复;促进直肠肛管抑制反射建立;促进蠕动,缓解肛压,减少肠炎发生,最终使肛管直肠排控便机制达到正常。     

儿童结肠冗长症的微创治疗

目的探讨腹腔镜技术在儿童结肠冗长症中的应用价值。方法选择2004年6月～2006年1月结肠冗长症患儿8例作为腹腔镜组,于腹腔镜下行根治术;选择2002年6月～2004年12月经开腹手术治疗的结肠冗长症患儿7例作为开腹手术组。比较两组疗效、手术时间、术后进食时间及住院时间等。结果腹腔镜组8例,均治愈,无并发症,无中转开腹病例,平均手术时间1.8±0.4h(1.4～2.1h);开腹手术组平均手术时间3.1±1.1h(2.5～4.1h);两组比较,P<0.05,差异有统计学意义。腹腔镜组肠鸣音恢复时间平均为术后1.1±0.3d(0.9～1.4d),有自主排便,恢复饮食;开腹手术组肠鸣音恢复时间平均为术后2.2±0.8d(1.8～3.1d),有自主排便,5～7d恢复饮食;两组比较,P<0.05,差异有统计学意义。腹腔镜组平均住院时间为5.4±1.2d(4～6d);开腹手术组平均住院时间为9.1±2.1d(8～11d);两组比较,P<0.05,差异有统计学意义。腹腔镜组随访3～6个月,患儿生长发育良好,无术前类似症状发生,无再住院及二次手术病例;开腹手术组有2例因不全性机械性肠梗阻再次住院,经保守治疗缓解。结论腹腔镜技术应用于儿童结肠冗长症根治术,疗效好,手术时间及住院时间缩短,术后肠道功能恢复优于开腹手术。     

腹腔镜辅助Soave巨结肠根治术的中长期随访报告

目的总结腹腔镜辅助Soave巨结肠根治术115例的中长期随访疗效,评价术后肛门功能及生活质量,探讨腹腔镜辅助Soave巨结肠根治术的经验与效果。方法回顾性分析本院2008—2013年收治的115例先天性巨结肠患儿临床资料,术前均予钡剂灌肠、直肠肛门测压和直肠黏膜活检确诊,术中应用4个Trocar,经腹腔探查找到移行和扩张的肠段;予多处浆肌层活检确定诊断和病变肠段范围,彻底游离病变肠管,经肛门直肠肌鞘内拖出切除,近端与肛门吻合。采取问卷调查方式评估患儿肛门功能、生长发育及生活质量评分。结果 115例获随访1.5~7年,平均(51.32±21.05)个月,其中1~3年41例,3~5年42例,5年32例,参照Heikkinen评分标准:术后3个月、1年、3年肛门排便优良率分别为69.1%(76/115)、91.3%(105/115)、92.4%(91/98);术后3个月、1年、3年肛门静息压力分别为(35.35±6.52)mmHg、(55.65±8.69)mmHg、(57.31±9.43)mmHg;与同年龄组肠套叠术后门诊复诊患儿肛门静息压力(60.11±8.69)mmHg比较,术后3个月肛门静息压力明显降低(t=12.926,P=0.000),术后第1年、第3年肛门静息压力与对照组比较无明显差异(t=1.851,P=0.07;t=1.117,P=0.270);术后1年钡剂结肠造影显示结肠痉挛、移行及扩张段消失,肛管直肠角正常,患儿均生长发育正常。结论腹腔镜辅助Soave巨结肠根治术治疗先天性巨结肠创伤小,操作简单,安全有效,术后肠功能恢复快,中长期随访肛门功能和生活质量良好。     

Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review

Although various surgical procedures have been described to treat Hirschsprung’s disease (HD), few studies have evaluated the long-term results of these children. The purpose of this study was to assess the long-term clinical outcome and bowel function of patients with HD. The hospital records of 259 consecutive patients with a confirmed histological diagnosis of HD during 1975–2003 were examined. Data was assessed for age at presentation, sex, clinical presentation, associated anomalies, level of aganglionosis, surgical procedures, complications and bowel function. Follow up was carried out by personal/telephone interviews with patients or their parents. Of the 259 patients with HD, 200 were males (77.2%) and 59 females (22.8%). Intestinal obstruction was the presenting feature in 147 patients (56.8%), intestinal perforation in 5 (1.9%), enterocolitis in 30 (11.6%) and constipation in 77 (29.7%). Thirty-nine patients (15.1%) had associated Down’s syndrome. Two hundred and nine patients (80.7%) had rectosigmoid disease, 31 (12%) had long segment disease and 19 (7.3%) had total colonic aganglionosis. Forty-three patients (16.6%) had preoperative enterocolitis. Primary colostomy was performed in 160 patients and a primary pull through in 90. Seven patients had a sphincteromyectomy for ultrashort HD. Two patients died prior to treatment. Various pull through procedures were performed in these patients. Postoperative complications included: pelvic abcess in 2, rectal stricture in 10, perianal excoriation in 7, anastomotic leak in 8, intestinal obstruction in 3, wound dehiscence in 1, stomal prolapse/stenosis in 5, rectovesical fistula in 2 and enterocolitis in 56. Five patients underwent a redo pull through and 46 required a post pull through sphincterectomy. At the time of follow-up, 27 were lost to follow-up, 9 died, 18 had permanent stomas and 4 were too young to assess bowel function. Of the remaining 194 patients, bowel function was normal in 132 (68%). Twenty patients (10.3%) had soiling and 42 (21.7%) had constipation requiring laxatives or enemas. There was no difference in bowel function in relation to type of pull through operation. Only 34% of patients with Down’s syndrome had normal continence. The majority of patients with HD continue to have disturbances of bowel function for many years before attaining normal continence.     

Laparoscopic surgery in neonates and infants weighing less than 5 kg

BACKGROUND: Laparoscopic surgery in small infants is still an uncommon procedure in Japan. The present study was conducted to evaluate the advantages and disadvantages of laparoscopic surgery in neonates and infants weighing less than 5 kg. METHODS: Between July 1997 and November 1999, 54 infants underwent laparoscopic surgery. They were evaluated for length of operation, intra- and postoperative complications, changes in intra-operative body temperature, time to postoperative feeding, length of hospital stay and changes in serum levels of C-reactive protein (CRP), creatinine phosphokinase (CPK) and interleukin (IL)-6 on days 0, 1 and 4. These parameters in the laparoscopic pyloromyotomy (LP) and laparoscopic fundoplication groups were compared with those in the open pyloromyotomy (OP) and open fundoplication groups, respectively, which were performed during the same period. RESULTS: Three laparoscopy cases were converted to open procedures. One case of fundoplication had panperitonitis due to failed gastrostomy and required long-term parenteral nutrition. Time to postoperative feeding and length of hospital stay in the LP group were significantly shorter than in the OP group. In LP group, intra-operative body temperature did not markedly decrease during CO, pneumoperitoneum. Although serum levels of CRP, CPK and IL-6 were elevated in all groups on postoperative day 1, there were no significant differences between the groups. CONCLUSIONS: Better quality of life after laparoscopy is a significant advantage over conventional surgical procedures. This advantage not only outweighs the incidence of intra- and postoperative complications in small infants, but further emphasizes the need to improve laparoscopic techniques to avoid complications.     

结肠-直肠心形吻合术治疗先天性巨结肠远期疗效分析

目的：分析我院1992－2001年采用直肠肛管纵结肠－直肠心形吻合术治疗先天性巨结肠（HD）并获长期随访的136例远期疗效。方法：本组136例，其中新生儿40例，13例出现巨结肠危害。常见型96例，长段型18例，短段型22例，136例均实施Ⅰ期根治心形吻合术，术后随访18个月－10年，随访内容包括临床主观排便功能检查和客观排便功能测定等。结果：无手术死亡，21人近期并发小肠结肠炎（17．6％），远期随访排便正常127例，异常9例，便秘2例（1．5％），污粪7例（5．1％），直肠肛管测压84人次（84／136），直肠肛管抑制反复恢复46例，占54．8％（46／84），结论：直肠肛管纵切心形吻合术适用于各年龄组及绝大多数类型巨结肠的根治，无神经节细胞肠管长度以及根治时的年龄是影响远期肛门功能的重要因素。     

Classification and diagnostic criteria of variants of Hirschsprung’s disease

“Variants of Hirschsprung’s disease” are conditions that clinically resemble Hirschsprung’s disease (HD), despite the presence of ganglion cells in rectal suction biopsies. The diagnosis and management of these patients can be challenging. Specific histological, immunohistochemical and electron microscopic investigations are required to characterize this heterogeneous group of functional bowel disorders. Variants of HD include intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome. This review article systematically classifies variants of HD based on current diagnostic criteria with an additional focus on pathogenesis, epidemiology, clinical presentation, management and outcome.     

SOX10mRNA在先天性巨结肠肠壁中的表达

目的研究性别决定区Y基因相关高可变区基因10（SRY related high mobilitvgroup—BoX gene10，SOX10）在先天性巨结肠（Hirschsprung’s disease，HD）肠壁中的表达情况，以进一步了解HD在分子基础上的发病机制。方法分别取12例先天性巨结肠病例的手术标本狭窄段、移行段及扩张段，随机取12例非巨结肠手术病例（如结肠造瘘或关瘘手术）作为对照组，提取平滑肌组织总RNA，应用逆转录多聚酶链反应（RT-PCR）扩增目的基因和看家基因片段，观察病变段和正常段SOX10mRNA的表达，并与看家基因（B—actin）在病变段和正常段的表达比较，进行统计学分析。结果SOX10mRNA在HD患儿痉挛段呈低表达，在扩张段及正常对照组呈高表达。痉挛段SOX10mRNA的表达量与移行段、扩张段及正常对照组比较，差异均有统计学意义；而移行段、扩张段及对照组比较，差异无统计学意义。结论HD患儿结肠SOX10mRNA的异常分布显示SOXIO基因是出生后肠神经系统维持正常功能所必需的，SOX10mRNA表达减少可引起肠管痉挛，肠腔狭窄，造成肠功能障碍。     

胶质细胞源性神经营养因子、Cajal间质细胞和缝隙连接蛋白43在先天性巨结肠中的表达分布研究

摘要 目的 探讨胶质细胞源性神经营养因子（GDNF） mRNA、Cajal间质细胞（ICC）及缝隙连接蛋白43（Cx43）与先天性巨结肠(HD)发病的关系 。方法 依据纳入和排除标准选择2006年8月～2007年9月经病理诊断为HD的患儿，取手术切除结肠标本作为HD组，根据取材位置不同分为狭窄段（又分为短段型和常见型）、移行段和扩张段亚组。应用半定量RT PCR及免疫组化技术检测结肠组织GDNF mRNA水平和ICC、Cx43的分布，以肠套叠患儿手术结肠标本作为对照组。结果 研究期间HD组纳入42例，对照组纳入5例。①狭窄段亚组GDNF mRNA表达较扩张段亚组和对照组明显降低（P＜0.05）；扩张段亚组和对照组GDNF mRNA表达差异无统计学意义（P＞0.05）。狭窄段亚组中短段型较常见型GDNF mRNA表达低（P＜0.05）。② ICC在对照组和扩张段亚组主要分布于黏膜下丛和肌间丛，呈现连续性分布，相互连接形成网络状结构。ICC在狭窄段亚组结肠组织内的分布显著减少或消失，与对照组和扩张段亚组差异有极显著统计学意义（P＜0.001），肌间丛的网络状结构完全破坏，残存ICC形态异常；移行段亚组结肠组织内ICC的分布较对照组和扩张段亚组减少（P＜0.05），但较狭窄段亚组显著增加（P＜0.001），其形态部分接近正常，但肌间丛缺乏连续性分布，未能形成正常的网络状结构。③狭窄段亚组肠壁肌层内Cx43表达缺失，各层中几乎未见Cx43表达。移行段亚组肠壁环肌层与纵肌层交界处Cx43有中等强度表达。扩张段亚组肠壁环肌层与纵肌层交界处Cx43呈强阳性分布，黏膜下丛和肌间丛未见或少见Cx43表达。结论 GDNF mRNA表达异常、ICC分布减少和形态异常、Cx43表达缺失或减少和缝隙连接结构的破坏可能引起细胞间物质和电信号的传递障碍，而导致HD发病的原因之一。     

不同手术方法治疗肠旋转不良的疗效及对免疫功能的影响探讨

目的探讨不同手术方法治疗新生儿肠旋转不良的疗效以及对免疫功能的影响。方法对本院2010年1月到2011年12月收治的40例新生儿肠旋转不良患儿进行手术治疗,其中20例行开腹Ladd’s手术,20例行腹腔镜下Ladd’s手术;比较两组患儿手术前、手术后第1天、第5天血液中CD3^＋、CD4^＋、CD8^＋、B细胞、NK细胞和IgA、IgG、IgM、C3、C4hs—CRP水平,同时比较两组应激时间、术中出血量、肠功能恢复时间、术后住院时间及并发症等指标。结果两组患儿均痊愈出院,腹腔镜手术患儿在应激时间、出血量、肠功能恢复时间、住院时间方面比较,均优于开腹手术,差异有统计学意义;两组并发症的发生率比较,差异无统计学意义。术后第1天,两组患儿外周血CD3^＋、CD4^＋、CD8^＋活性较术前明显下降,差异有统计学意义（P〈0．05）;两组间比较,除NK细胞外（P〉0．05）,差异均有统计学意义（P〈0．05）。术后第5天,腹腔镜手术组恢复至接近术前水平（P〉0．05）,明显高于开腹组,差异有统计学意义（P〈0．05）。两组术后第1天与术前相比,免疫球蛋白IgA、IgG、IgM、C3、C4、hs-CRP比较,差异有统计学意义（P〈0．05）;两组间比较,差异有统计学意义（P〈0．05）,术后第5天,腹腔镜组恢复至接近正常水平。结论腹腔镜Ladd’s手术治疗肠旋转不良对机体干扰小,安全,创伤小,恢复快,具有一定可行性。     

腹腔镜与开放Kasai手术治疗Ⅲ型胆道闭锁中期疗效的对比

目的比较腹腔镜与开放Kasai手术治疗先天性胆道闭锁的中期疗效。方法回顾性分析2010年9月至2011年9月在本院行Kasai手术并获得随访的103例Ⅲ型胆道闭锁患儿,根据手术方式分为腹腔镜辅助Kasai手术组(LP组)和开腹Kasai手术组(OP组)。通过术后12~30个月肝生化ALT和TBil中位数的秩和检验,比较两组Kasai术后中期肝功能情况;应用Kaplan-Meier生存分析比较两组中期生存率;比较两组对二期自体肝移植手术及术后生存情况的影响。结果 103例Ⅲ型胆道闭锁患儿中,LP组55例,OP组48例;两组年龄分布、性别比例、术前肝功能(TBil、ALT、AST)中位数等均无统计学差异。术后12个月、18个月、24个月、30个月两组肝功能(TBil,ALT)恢复情况无统计学差异。Kasai术后LP组和OP组的自体肝生存率,1年生存率分别为78.2%和75%,2年生存率分别为66.9%和55.8%,3年生存率分别为66.9%和55.8%。Kasai术后实施肝移植11例(LP组4例,OP组7例),1例移植术后死亡。结论胆道闭锁患儿实施腹腔镜Kasai手术与开放Kasai手术后中期效果无明显差异。     

Hirschsprung disease: Paternal transmission to a son

Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.     

Prevalence of Hirschsprung’s disease in premature infants: a systematic review

Purpose

Intestinal dysmotility in preterm infants has often been attributed to immature enteric nervous system. It is frequently reported that Hirschsprung’s disease (HD) is rare in premature infants. The exact prevalence of HD in premature infants is not well documented. The classical signs of HD may often not be identified due to the complexity of symptoms of prematurity itself. This systematic review was designed to determine the prevalence and presentation of HD in premature infants.

Methods

A systematic review of the literature using the keywords “Hirschsprung’s disease”, “aganglionosis”, “congenital megacolon”, “premature” and “preterm” was performed. Resulting publications were reviewed for epidemiology and morbidity. Only infants born <37 weeks of gestation or described as preterm birth by the authors were included. Reference lists were screened for additional relevant studies.

Results

Twenty-six publications from 1964 to 2013 reported data on premature infants with HD. Out of a total number of 4,147 infants, prematurity was recorded in 257 cases, giving a prevalence rate of 6 % of preterm infants diagnosed with HD. During 1964–1999, reported prevalence of HD in premature infants ranged from 1.7 to 9.2 % (overall prevalence 5 %) and during 2000–2013 prevalence ranged from 4 to 19.4 % (overall prevalence 14 %). The prevalence of total colonic aganglionosis in premature infants was 13 % (15 out of 118 infants). Mean gestational age of preterm infants was 34.5 (±0.7) weeks and mean age at diagnosis ranged from 18.3 days to 3.9 months. Abdominal distension was observed in 80 % of preterm infants, delayed passage of meconium in 57 and 37 % of premature infants presented with bile-stained vomiting.

Conclusion

In recent years, higher prevalence of HD has been reported in premature infants compared to previous years. Hirschsprung’s disease should be considered in preterm infants presenting with features of intestinal obstruction.