Rare case report of anorectal malformation and intestinal atresia

IntroductionIntestinal malformations, such as intestinal atresia, malrotation, and anorectal malformation, are rare events, but concurrent intestinal atresia and anorectal malformation are rare in combination. These anomalies have similar in utero and perinatal symptoms, which can make the diagnosis of both defects prenatally challenging.Presentation of caseWe present a case of a male infant with a prenatal diagnosis of truncus arteriosus who on a 32-week routine prenatal ultrasound was suspected to have an intestinal malformation. On day of life one, the patient was taken to the operating room and found to have both type IIIa ileal atresia and anorectal malformation with normal bowel in between. A complete work up for vertebral defects, anorectal malformation, cardiac septal defects, esophageal atresia, renal anomalies, and radial limb defects (VACTERL) anomalies did not reveal additional anomalies.DiscussionIn this case, prenatal information supported intestinal obstruction, and the rare combination of both intestinal atresia and anorectal malformation proved surprising and interesting.ConclusionWe suggest providers be aware of the potential of multiple alimentary tract malformations to improve operative preparation and reduce the morbidity or mortality risk from repeat procedures when possible.     

分期全腔静脉-肺动脉连接术治疗复杂先天性心脏病

目的 总结分期全腔静脉.肺动脉连接术(TCPC)治疗复杂先天性心脏病的经验.方法 1998年6月至2008年3月,22例先天性心脏病复杂畸形患者接受分期TCPC.本组中单心室合并肺动脉狄窄9例,合并肺动脉闭锁3例;完全性大动脉转位,十字交叉心,肺动脉瓣狭窄1例;完全性房室通道,左心窒发育不良,肺动脉闭锁,房室瓣少-中量反流1例;完全性房室通道,动脉导管未闭,肺动脉狭窄,双向Glenn术后伴吻合口狭窄房室瓣大量反流1例;镜面右位心,功能性单心室,肺动脉闭锁,动脉导管未闭,体肺侧支,双侧双向Glenn术后2年,右下肺动-静脉瘘1例;三尖瓣闭锁并肺动脉狭窄4例;三尖瓣闭锁伴肺动脉闭锁,动脉导管未闭1例;镜面右位心,右心室双出口,窒间隔缺损,左心室发育小良,功能性单心房,肺动脉瓣狭窄,三尖瓣少量反流,粗大体肺侧支1例.第一期体肺分流术后,二期双向Glenn术5例,第一期单侧或双侧双向Glenn手术17例.行双向Glenn手术的年龄为(5.9±4.4)岁,Glenn术前肺动脉压为17～20 mm Hg(1 mm Hg=0.133 kPa);房室瓣膜关闭不全3例;一期手术前Nakata指数小于200 mm2/m2者4例.接受TCPC术平均年龄为(9.6±4.9)岁,与双向Glenn术间隔时间(3.7 ±1.2)年,术前经上腔静脉置管测得肺动脉压力均小于15 mm Hg.全组22例均采用心外管道TCPC,房窜瓣成形1例.结果 全组住院死亡1例,病死率为4.5%.死亡病例为单心室,肺动脉闭锁,第一期体肺分流术后,二期左肺动脉成形双向Glenn术后5年第三期行TCPC,术后左肺反复多次大出血死亡.余患者均顺利出院,术后中心静脉压12～18 mm Hg.出院前经皮测血氧饱和度为90%～96%,活动量明显增加,发绀及气促症状消失,心功能均为NYHA分级Ⅰ～Ⅱ级.结论 对于高危患者根据病情选择分期TCPC,可以使更多有高危因素不能行Fontan手术的患者得到救治的机会,扩大手术适应证,并取得满意疗效.     

Biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report

The authors present a case of biliary atresia splenic malformation (BASM) syndrome in a 34-week gestational age boy who died shortly after birth. Autopsy results showed polysplenia, short pancreas, extrahepatic biliary atresia, heterotaxy of liver, tracheoesophageal and duodenal atresia, right lung hypoplasia, cardiac defects with tetralogy of Fallot, axial skeletal defects, and minor genitourinary disorders. Additional histopathologic findings were congenital hepatic fibrosis and bronchopulmonary dysplasia. The authors consider that the abnormalities of this case are possibly a unique combination. Midline defects, which are the most notable features of the presented case, may be closely related to pathogenesis of BASM syndrome.     

Colon atresia,facial hemiaplasia,and anophthalmia: a case report

A case of a newborn with atresia of the transverse colon and right facial hemiaplasia, anophthalmia, and cerebral dysfunction is reported. Colon atresia is a rare cause of congenital bowel obstruction and often associated with other malformations such as abdominal wall defects, gastrointestinal, cardiac, urogenital, and musculosceletal lesions. Facial hemiaplasia may arise in frame of chromosomal defects or as a result of neurovascular compromise caused by congenital amniotic bands. However, the combination of colon atresia and facial hemiaplasia has not been reported before. J Pediatr Surg 37:1498-1500.     

VACTERL association: a new case with biotinidase deficiency and annular pancreas

VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported.     

Biliary atresia associated with hypoplastic left heart syndrome: a case report and review of the literature

Biliary atresia is a cholestatic disorder of infancy that is associated with other anatomic anomalies in approximately 20% of cases. These frequently are defects in situs determination and laterality, causing syndromes of heterotaxy and complex heart defects. The authors describe an infant with both biliary atresia and hypoplastic left heart syndrome (HLHS) in the absence of a laterality defect or evidence of any other morphologic defect. The presence of a hypoplastic left ventricle in a patient with biliary atresia has previously been reported only in the context of a heterotaxy syndrome. The coexistence of these 2 disorders raises etiologic considerations and represents a potential challenge for the surgical treatment of both conditions.     

Duodenal atresia associated with proximal jejunal perforations: a case report and review of the literature

Duodenal atresia is associated with Down’s syndrome, malrotation, and congenital cardiac defects. Idiopathic intestinal perforations in a newborn, which are not associated with necrotizing enterocolitis (NEC), have been described. The authors report on a full-term neonate who had multiple perforations of the proximal jejunum distal to duodenal atresia. To the best of the authors knowledge, the combination of idiopathic intestinal perforation and duodenal atresia has not been reported previously.     

Oesophageal atresia

Oesophageal atresia is a congenital abnormality in which a variable portion of the mid-oesophagus is not formed. This is usually associated with a distal tracheo-oesophageal fistula. Important associated structural anomalies include heart defects, duodenal atresia, anorectal malformations. The anatomy, diagnosis and management of this condition are described.     

Coronary sinus septal defect associated with tricuspid atresia

Coronary sinus septal defects are unusual congenital anomalies that may assume particular clinical importance in patients undergoing a modified Fontan procedure. Two of 10 patients with tricuspid atresia who underwent a modified Fontan procedure between January, 1984, and December, 1984, were noted to have coronary sinus septal defects in the early postoperative period. A pathologic review of 159 specimens of tricuspid atresia revealed coronary sinus septal defects in four. Although infrequent, coronary sinus septal defects may permit significant persistent right-to-left interatrial shunting after a modified Fontan procedure. Ideally, preoperative recognition allows for selective direct closure or closure of the coronary sinus orifice. Alternatively, routine baffling of the coronary sinus into the left atrium obviates this potential source of interatrial communication.     

Preduodenal portal vein, malrotation, and high jejunal atresia: a case report

Preduodenal portal vein (PDPV) is a rare congenital anomaly. In most patients, it is associated with other congenital defects including situs inversus, malrotation, and biliary atresia or occurs as part of the heterotaxia syndrome or polysplenia syndrome. We describe a newborn affected by high jejunal atresia, malrotation, and a complex cardiac anomaly, in whom PDPV was diagnosed at early relaparotomy because of stenosis of the jejunal anastomosis. Occurrence of PDPV with intestinal atresia has not been previously reported in the literature.     

Congenital absence of the long head of the biceps brachii tendon as a VATER association

Absence of the long head of the biceps brachii tendon is rare (only 1 case reported). We believe that our article is the first to report this anomaly as associated with VATER complex (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial and renal anomalies).     

产前B型超声诊断并尽早手术治疗新生儿肠闭锁24例报告

目的探讨运用产前B型超声诊断以达到尽早手术治疗新生儿肠闭锁,提高治愈率。方法回顾性分析近4年共24例产前超声诊断的肠闭锁,产后及时外科干预、早期手术治疗,其中十二指肠闭锁5例,空回肠闭锁18例,结肠闭锁1例。结果24例均在出生后24h内行手术治疗,术后存活21例,占87．5％;19例术后随访6个月～2年,疗效满意。结论手术是治疗新生儿肠闭锁的唯一手段,产前明确诊断,产后及时外科干预尽早手术治疗,可减少并发症,提高治愈率。     

Differentiation of cholestatic jaundice in infants: Utility of diethyl-IDA

Time-activity curves of technetium-labeled diethyl-IDA were used to evaluate 31 patients in an effort to differentiate infants with cholestatic jaundice. Results can be obtained rapidly with minimal radiation exposure and no known secondary effects. The combination of diethyl-IDA time-activity curves and gamma glutamyl transferase activity was found to discriminate biliary atresia from neonatal hepatitis. The group with neonatal hepatitis was characterized by abnormal, yet lower, gamma glutamyl transferase activities and diethyl-IDA time-activity curves which peaked within 1 minute of injection, yet decayed in a manner similar to cardiac activity. The group with biliary atresia was characterized by elevated gamma glutamyl transferase activities, hepatic peaks at 8 minutes and markedly delayed decay. In that early operative intervention is associated with increased survival in biliary atresia, prompt differentiation should improve prognosis.     

First orthotopic liver transplantation in patient with biliary atresia and situs inversus in spain

Biliary atresia is the most common indication for liver transplantation in the pediatric age group. The Kasai portoenterostomy has become established as the primary treatment for biliary atresia. If portoenterostomy fails, death before 2 years of age is likely without liver transplantation. The most common multiple malformation syndrome associated with biliary atresia is polysplenia syndrome, which forms a constellation of defects of body symmetry, splenic development and vascular anomalies, including situs inversus, polysplenia and others. The situs inversus was formerly considered an absolute contraindication for liver transplantation. Recently however, several case reports have been published suggesting that neither situs inversus nor this particular subset of vascular abnormalities should be considered contraindications to liver transplantation. We present one case of liver transplantation performed in patient with biliary atresia, situs inversus and polysplenia. This is the first report described in Spain for a liver transplant in a child with biliary atresia plus situs inversus.     

Intestinal atresia and stenosis: analysis of survival in 120 cases

This report reviews the clinical presentation, operative management, and survival in 120 infants with intestinal atresia and stenosis treated from 1972 to 1984. Duodenal atresia occurred in 39 neonates and duodenal stenosis in 19. Thirty-two infants had severe associated anomalies. Operative management included duodenoduodenostomy in 47 infants, duodenotomy and web excision in four, and duodenojejunostomy in seven. Jejunoileal atresia occurred in 49 infants and stenosis in three. Six infants had cystic fibrosis and nine had gastroschisis. Operative therapy included wide proximal resection and end-to-end anastomosis in 18 infants, minimal resection with antimesenteric tapering enteroplasty and anastomosis in 14 neonates, and resection with temporary enterostomies in 20 infants. Twenty-nine infants (56%) required total parenteral nutrition. Colon atresia occurred in 11 infants and stenosis in one. Initial end-colostomy with subsequent resection and anastomosis was performed in 11 infants while one underwent a primary resection. The survival rate was 91% for duodenal defects, 87% for jejunoileal cases, and 100% for colonic anomalies. Death is currently caused by severe associated anomalies in infants with duodenal atresia and sepsis and total parenteral nutrition-related cholestasis with progressive liver failure in instances of jejunoileal atresia.     

Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum

Ten patients with multiple intestinal atresias were seen at Ste Justine Hospital from 1962–1971. Two of the seven patients with multiple atresia were unusual, presenting a rarely reported association of atresia of the duodenum, jejunum, and ileum.In addition, we recently treated three of five children with a special type of multiple atresia who came from the same area and born to three related French-Canadian families. These five cases of hereditary atresia involved the stomach, duodenum, jejunum, colon and rectum. Genetic investigation revealed common ancestors in these three families going back to the original settlers in 1654–1663. In addition, consanguinity was present in some of the more recent generations.It is proposed that when extensive multiple atresias occur a rare autosomal recessive gene is the responsible agent for this congenital birth defect. The etiology of such multiple septal atresia is difficult to place into any present theory of pathogenesis.     

Individualized management of colonic atresia

Atresia of the colon represents the least common cause of neonatal intestinal obstruction, comprising less than 10 percent of gastrointestinal atresias. Eleven patients underwent surgical repair of colonic atresia during a 5 year period. Five of the patients were premature. Two had associated gastroschisis and other congenital anomalies were present in three patients. Hypaque enema was utilized to diagnose intestinal atresia and laparotomy was then undertaken. Primary repair could be performed in four patients, one with type I and three with type 3 atresias. These four patients did well and were discharged within 13 days after operation. Three deaths occurred in patients with associated anomalies, yielding a mortality rate of 28 percent. Operative therapy of colonic atresia should be individualized, based on the condition of the patient at presentation and the presence of associated birth defects.     

Placental emboli from a fetus papyraceous

A syndrome in monozygotic twins that consists of a macerated twin fetus (fetus papyraceous) and a live-born twin with various anatomical defects has been described. The etiology is thought to be placental transfer of emboli or thromboplastic material through vascular shunts. Thromboplastic material precipitates disseminated intravascular coagulation (DIC) in the fetus, with a resultant hypercoagulable state due to relative fetal antithrombin III deficiency. Two cases of this syndrome will be discussed. The case of a live-born twin with intestinal atresia, who developed in utero with a fetus papyraceous, is reported. Emboli were demonstrated in vascular shunts of the diamniotic-monochorionic placenta. The hypothesis of intestinal atresia as a result of a vascular accident is reviewed. Another case involving a live-born twin with congenital skin defects, who developed in utero with a fetus papyraceous, is also reported. The skin defects were a congenital disruption from fetal DIC with resultant hypercoagulable state. Several other manifestations of the placental emboli syndrome will be discussed and the vascular etiology of the disruptions explained.     

Mechanical compression with secondary ischemia as a possible cause of atresias associated with omphalocele

We report 2 cases of omphalocele associated with intestinal atresia. In the context of this unusual sequence, we discuss the etiopathogenesis of intestinal atresias in association with tight abdominal wall defects.     

Aortic atresia: morphologic characteristics affecting survival and operative palliation

A quantitative anatomic study of 54 cardiac specimens with aortic atresia is related to surgical treatment of patients with aortic atresia and hypoplastic left heart syndrome. Coarctation of the aorta was present in 80% of patients with aortic atresia and should influence the extent of aortic arch reconstruction when present. Other associated cardiac defects were uncommon but, when present, may be contraindications to operative palliation because of added complexity of the operation. Anatomic abnormalities of the tricuspid or pulmonary valve were present in 7% of cases and could be important in the outcome of palliative procedures. Natural survival was related to thickness of the right ventricular wall so that selection of those infants with thicker and better functioning right ventricles may improve short-term and long-term operative results in aortic atresia.