Isolated levocardia: Prenatal diagnosis and management

Isolated levocardia (IL) is a rare condition of situs anomaly in which there is a normal left-sided heart (levocardia) with dextro position of the abdominal viscera. IL has been reported in children and adults with complex cardiac defects, whereas there are only few published reports regarding the prenatal diagnosis of IL. We report two prenatal cases of IL diagnosed by ultrasonography and magnetic resonance imaging (MRI). In both cases, fetal cardiac function remained within the normal range throughout pregnancy, and no treatment for the heart was required after birth. For the dextro position of abdominal viscera, one case was followed without any surgical procedure, but the other case required prophylactic operation due to malrotation of the small intestine. Although the prognosis of IL largely depends on the severity of associated cardiac anomaly, future bowel obstruction caused by intestinal malrotation may also be life-threatening. In this respect, prenatal diagnosis of IL is important, even when there is no associated cardiac structural anomaly. If IL is suspected in routine fetal ultrasonography, MRI may be recommended to obtain more detailed information on the anatomy of abdominal viscerae, and careful observation for bowel problems is required, especially after oral nutrition is started.     

Total absence of the small bowel in a premature neonate

We report here an interesting unique case of total loss of small bowel in the absence of associated malrotation or gastroschisis. Total loss of small bowel, acquired in utero in the absence of associated anomalies such as malrotation or gastroschisis, has not been previously reported. Several reports of congenital short bowel exist. However, this uncommon finding is typically associated with malrotation. Babies with this condition often present with functional intestinal obstruction. Several cases in which infarction of gastroschisis and autolysis of the bowel, followed by in utero resolution of the abdominal wall defect, have been reported as a cause of congenital absence of the small bowel. We present here the first report, to our knowledge, of an infant with total absence of the small bowel without gastroschisis or malrotation.     

Prenatal echocardiographic diagnosis of situs inversus totalis and transposition of the great arteries: a case report.

A case of situs inversus totalis and transposition of the great arteries (TGA) was diagnosed prenatally at 25 weeks' gestation. Postnatal echocardiographic examination confirmed the antenatal findings. This case underscores the importance of recognizing situs abnormalities during obstetric and fetal echocardiographic examination, as they are often associated with cardiac anomalies. Accurate prenatal diagnosis of structural heart defects is extremely important in family counselling and in planning obstetric and postnatal treatment.     

How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung's disease?

Imperforate anus (IA) and Hirschsprung's disease (HD) are the commonest causes of coloanal obstruction in the neonate. We prospectively studied 15,092 pregnancies over a 4-year period to determine the accuracy of prenatal sonography (US) in diagnosing these conditions. Based on location and appearance, 13 fetuses were thought to have colonic dilatation on prenatal US. Nine of these had dilated bowel located in the pelvis. Postnatally, 7 were normal and 2 had an IA. Four fetuses were thought to have dilated proximal colon based on the peripheral location of the bowel loops in the abdomen. All 4 had normal colons, but had small-bowel obstruction postnatally (3 meconium ileus, 1 malrotation). Neonatal or fetal pathologic follow-up was obtained for all pregnancies. Twenty-three fetuses without dilated colon on US had coloanal obstruction (20 IA, 3 HD). Other anomalies had been sonographically evident in 17 of these fetuses (all with IA).Overall sensitivity and positive predictive value for sonographically dilated colon in predicting IA or HD were very low in this series (8% and 15%, respectively). No cases of HD were diagnosed prenatally. The incidence of associated anomalies was high in fetuses with IA. Dilated bowel loops outside the pelvis represented small bowel rather than colon, even if they were peripheral in location. These data suggest that prenatal US is of limited value for either diagnosing or excluding IA and HD.     

Anomalies of intestinal rotation and fixation: consequences of late diagnosis beyond two years of age

The malrotation and no well fixation anomalies of the digestive tract is also frequent in older child, young and adult, with characteristic and specific clinical presentation. Actually, the diagnostic and treatment seem to be late, after suffering prolonged symptoms and/or in emergency. We present nine cases of anomalies in the embryonic development of the digestive tract which were diagnosed and treated in infants or young, all above 2 years old. Eight cases were of more or less complete intestinal malrotation; one of them was a complete malrotation with an intrinsic duodenal stenosis associated (no bands of Ladd) and another one was a right paramesocolic hernia, always accompanied by malrotation. The association with other extra-digestive anomalies, especially urological, was 70%. The predominant symptom was intermittent abdominal pain (IAP)—80%—sometimes accompanied by vomiting (35%) and episodes of diarrhoea (25%). In all the cases, while the clinical background was early, diagnosis was late. Indeed, in 60% of the cases diagnosis was made intra-operatively in emergency surgical interventions. The imaging procedures employed were scanning and Doppler ultrasound, CT scan, and contrast gastrointestinal series (GIS). Up to 30% of errors in interpretation occurred, although they were eventually corrected with other tests. The most reliable diagnostic procedures were GIS and CT scan with contrast, although partial interpretation errors occurred with the latter procedure. Surgery was essential in 80% of the pre-operative cases, and in another two it was required as a preventative measure. Post-operatively, there was notable persistence of SBS in the cases of intestinal necrosis, and of other lesser symptoms in the rest. We conclude that: intestinal malrotations and malfixations are still being diagnosed very late, with serious systemic consequences such as intestinal obstructions or necroses, and prolonged clinical suffering. This could all be avoided if more attention were paid to the digestive symptoms associated with IAP, and to subocclusion or other abdominal phenomena (distension,...), together with, in the case of doubt about the findings with the previous procedures, the opportune imaging tests (e.g., abdominal Doppler ultrasound, CT scan with contrast, and barium GIS). Unlike other authors, we consider that the morbidity/mortality associated with cases of late diagnosis of these anomalies is high, and calls for earlier surgical treatment.     

Chronic intestinal pseudo-obstruction syndrome in infants and associated anomalies

The authors report 2 cases of functional intestinal pseudo-obstruction in infancy associated with intestinal and urologic anomalies. In the first case many intestinal obstructions occurred from the age of 3 weeks and the boy was operated on at 14 months of age. A short small bowel and an intestinal malrotation were found at surgery; the alimentary canal was completely aperistaltic, and an ileostomy was performed. Further operations were carried out, for obstruction due to adhesions, and lastly to perform another ileostomy. An antenatal diagnosis of megacystis had been made with ultrasonography. In the second case, the pseudo-obstruction syndrome occurred at the age of 1 month, due to a volvulus of the small bowel with malrotation. A second operation, one month later because of lack of intestinal transit showed an aperistaltic bowel and a colostomy was performed. The intestinal continuity was set up again at the age of 9 months and a fractional feeding was started. A megacystis was found during urologic investigations. Growth is correct for both children at 3 years of age. A review of the literature allowed to list the most frequent digestive or extradigestive anomalies associated with this syndrome.     

Hirschsprung's disease and asymptomatic malrotation: a rare association

Intestinal malrotation and Hirschsprung's disease may be associated with other congenital anomalies. However, the association of Hirschsprung's disease with intestinal malrotation has been recently pointed out and sporadic cases are reported in the literature. We describe a case of such an association in a baby with asymptomatic malrotation and emphasize the diagnostic implications.     

Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation

Intestinal malrotation is a developmental anomaly affecting the position and peritoneal attachments of the small and large intestines during fetal life. Most often the diagnosis is established in the first year of life on the basis of abdominal pain and bile-stained vomiting secondary to bowel obstruction. The antenatal diagnosis can be suggested by identification of the complications such as bowel dilatation, ascites or meconium peritonitis. We describe two cases of isolated antenatal gastric malposition without any other associated anomaly that were confirmed after birth to be due to intestinal malrotation. We suggest that such an antenatal finding should alert the paediatrician to close clinical follow-up and prompt the diagnosis and surgical treatment in case of abdominal pain and/or bilious vomiting.     

Intestinal obstruction in neonatal/pediatric surgery

Intestinal obstruction in the newborn infant and older child may be due to a variety of conditions, including atresia and stenosis, annular pancreas, malrotation, duplication cyst, meconium ileus, meconium plug syndrome and neonatal small left colon syndrome, Hirschsprung's disease, neoplasia, trauma, and other rarer causes. The mode of presentation can be acute or more chronic with systemic upset due to shock. Neonates, more so than older children, with unrecognized intestinal obstruction deteriorate rapidly, show an increase of associated morbidity and mortality and appropriate surgical treatment becomes more hazardous. Early diagnosis depends largely on the prompt detection of obstructive manifestations by the clinician and the subsequent accurate interpretation of radiographic findings and other investigations, leading to definitive treatment, which should always be preceded by appropriate resuscitation/preparation of the infant/child. Management of intestinal obstruction will almost always be surgical, apart from some notable exceptions and all are discussed in more detail. With the advent of pediatric and neonatal intensive care and multidisciplinary care, the morbidity and mortality of cases of intestinal obstruction reported in current series is generally extremely low and mainly determined by the coexistence of other major congenital anomalies (eg, cardiac), delays in diagnosis and treatment or coexisting medical conditions. Newer treatments and future developments may reduce the residual mortality in such cases as ultrashort-bowel syndrome.     

Intestinal obstruction caused by malrotation of the gut in atrial isomerism.

Five children with atrial isomerism developed intestinal obstruction caused by malrotation of the gut. Other than asplenia, the extracardiac anomalies in these syndromes are rarely regarded as important as the outcome after intestinal surgery is poor. As cardiac treatment improves, early investigation and intervention for intestinal symptoms becomes more important.     

A newborn with chylous ascites caused by intestinal malrotation associated with heterotaxia syndrome

Chylous ascites is a rare entity in infants. An uncommon cause of chylous ascites is intestinal malrotation. We report a case of a neonate with heterotaxia-polysplenia syndrome and intestinal malrotation who presented with chylous ascites and subsequently developed duodenal obstruction from midgut volvulus. He was successfully treated with peritoneal drainage, surgical intervention, and nutritional support. A brief overview of the association of chylous ascites, intestinal rotational anomalies and heterotaxia syndromes is discussed.     

Malrotation of the intestine and chronic volvulus as a cause of protein-losing enteropathy in infancy

Protein-losing enteropathy in children is caused by intestinal metabolic, inflammatory, or infectious processes, or by lymphatic obstruction (intestinal lymphangiectasia). In this report, a 17-month-old child is presented with protein-losing enteropathy due to intestinal malrotation and chronic midgut volvulus causing lymphatic obstruction and spillage of lymph in the intestine and the peritoneum. This report should alert the pediatrician that intestinal malrotation should be added to the wide list of possible causes of protein-losing enteropathy in children.     

Absence and retention of small bowel gas in infants with midgut volvulus: Mechanisms and significance

The radiographic pattern of high intestinal obstruction--gastric and duodenal distension with absence of small bowel gas (ASBG) or a completely gasless abdomen--may be present in infants with midgut volvulus. In most instances, ASBG is associated with viable small bowel. However, when associated with abdominal distension and tenderness ASBG usually reflects strangulated midgut volvulus and bowel necrosis. In some patients with midgut volvulus there is a radiographic pattern of low small bowel obstruction; this is generally associated with necrotic bowel. These seemingly opposite observations can be explained by reviewing the dynamics of gas absorption in normal bowel and in closed loop intestinal obstruction. Impaired blood supply can result in either gaslessness or gaseous distension under differing conditions. Key words: Infant, intestinal tract, intestinal gas, intestinal obstruction, intestinal volvulus, malrotation, gasless abdomen.     

Intestinal Ganglioneuroblastoma in a 22-Week Fetus

The clinical history and autopsy findings of a 22-week fetus with intestinal ganglioneuroblastoma, cardiac anomalies, omphalocele, and ileal atresia are presented. Ganglioneuroblastoma was confined to the large intestine and was not suspected prenatally despite ultrasonographic examination. Although enteric ganglia share neural crest lineage with other sites of congenital neuroblastoma, this is the first report of a primary intestinal ganglioneuroblastoma in a fetus or child. Various hypotheses are discussed to explain the coexistence of cardiac malformation and congenital neuroblastoma in this fetus and other cases in the literature. It is hypothesized that other malformations evident in this fetus were caused by the tumor, possibly as teratogenic effects of neuroblastoma-durived catecholamines during embryogenesis.     

Zespół Ladda rozpoznany u 15-letniego chłopca – opis przypadku

Congenital defects of gastrointestinal tract comprise about 5–6% of all defects. Intestinal malrotation is a rare but important cause of abdominal pain in children. The disease is usually diagnosed in the neonatal period and in infancy but is rare cases the diagnosis in childhood and in adult. In patients with intestinal malrotation Ladd's bands are the case of duodenum obstruction. The article describes the case of fifteen-years-old boy with malrotation and Ladd's bands. This atypical defect should be taken into consideration in differential diagnosis of gastrointestinal pathological symptoms in childhood.     

Four-vessel umbilical cord associated with multiple congenital anomalies: a case report and literature review

A case is described of a neonate with a four-vessel umbilical cord containing two arteries and two veins. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including a complete atrioventricular canal, an interrupted inferior vena cava, a double superior vena cava, a left ventricular hypoplasia, dextrocardia, situs ambiguous, and malrotation of the small bowel. The birth of an infant with a four-vessel cord mandates comprehensive work-up for associated anomalies. The literature is reviewed.     

大龄儿童肠旋转不良11例诊治分析

目的：探讨大龄儿童肠旋转不良的临床特点及诊治措施。方法回顾性分析2002年1月至2012年1月我们收治的11例大龄儿童肠旋转不良患儿的临床资料。结果11例患儿中,男性6例,女性5例,年龄在2～14岁,中位年龄6岁。11例大龄儿童占先天性肠旋转不良需手术治疗病例总数的5.7％（11／193）。临床表现：反复呕吐7例,腹痛6例,5例既往有反复腹痛病史。11例均行立位 X 线腹部平片检查,4例显示不同程度肠梗阻,7例无阳性表现。消化道造影检查10例,其中钡餐灌肠9例,上消化道造影（经鼻胃管注入碘水）1例,均诊断为先天性肠旋转不良。3例急腹症病例行 CT检查,其中1例平扫误诊为肠套叠;2例 CT 增强扫描确诊为先天性肠旋转不良。11例均行 Ladd’s 术,术后均恢复顺利,痊愈出院,术后随访2～4年未见再次扭转及营养不良病例。结论大龄儿童肠旋转不良临床表现不典型,主要为反复呕吐和腹痛。消化道造影是确诊的重要手段,合并急腹症时行增强CT 扫描有助于明确诊断。腹腔镜下 Ladd’s 术有望成为治疗肠旋转不良的重要方式。     

新生儿肠旋转不良并中肠扭转的微创手术治疗

目的探讨腹腔镜下微创手术治疗新生儿先天性肠旋转不良并中肠扭转的方法及疗效。方法回顾性分析本院2012年1月至2015年10月经腹腔镜手术治疗的96例新生儿先天性肠旋转不良并中肠扭转患儿临床资料,其中男性65例,女性31例,入院年龄1~28 d,平均(11±8.2)d;体重1.9~4.2 kg,平均(3.1±0.5)kg。均以呕吐人院,出生后有胆汁性呕吐;6例有便血,无腹胀及腹膜炎体征。90例消化道造影检查显示十二指肠降部或水平部不全梗阻,其中74例空肠起始部位于脊柱右侧,6例便血患者未行消化道造影检查。96例彩色多普勒超声检查发现肠系膜血管呈漩涡症。结果 96例为肠旋转不良,92例合并中肠扭转,旋转360°~900°;6例术前有血便者存在肠系膜水肿,其中3例有乳糜腹,均无血运障碍。手术时间32~112 min,平均(59±18)min。1例肠系膜血管损伤,中转开腹止血,术中出血30 mL;2例结肠系膜撕裂行修补术;术后1~3 d进食。96例术后随访3~48个月,2例术后1个月出现呕吐,消化道造影检查显示十二指肠梗阻,再次手术发现为肠扭转并肠粘连,均在腹腔镜下再次完成手术。结论新生儿肠旋转不良并中肠扭转实为肠系膜顺时针方向旋转所致,腹腔镜下采用适当的复位方法能够缩短手术时间,降低手术难度,腹腔镜下手术治疗新生儿肠旋转不良并中肠扭转是安全有效的。     

An unusual cause of rectal bleeding and intestinal obstruction in a child with peripheral vascular malformations

Vascular malformations of the small bowel are rare yet important causes of abdominal pain and rectal bleeding in children. This report describes a 6-year-old girl with a known history of musculoskeletal vascular anomalies who presented with recurrent abdominal pain and rectal bleeding after seemingly minor trauma. A diagnosis of enteric vascular malformation was established, and the patient was treated by a combined laparoscopic and open approach. This case highlights the fact that in the child with known vascular anomalies who presents with sudden gastrointestinal bleeding and intestinal obstruction, the diagnosis of gastrointestinal vascular anomaly should be suspected, and exploratory laparoscopy should be considered. The current management of enteric vascular anomalies is reviewed, and the differences between vascular malformations and hemangiomas are analyzed.     

Simultaneous correction of duodenal atresia due to annular pancreas and malrotation by laparoscopy.

We report the case of a 3450 g newborn girl with prenatally diagnosed duodenal obstruction. At operation, duodenal atresia due to annular pancreas and intestinal, partially volvulated malrotation became apparent. Surgical correction was completely laparoscopic with 3-mm instruments. The operation consisted of reduction of the volvulated bowel loops, division of obstructing bands, and creation of a side-to-side duodenoduodenostomy. The technique, described in detail, proved to be feasible. No postoperative complication occurred and the girl is doing well 4 months postoperatively.