Congenital Bowel Obstruction Research Articles

Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate

AbstractCongenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated.We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD.Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.

Genetics of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in approximately 2-2.8 in 10,000 newborns. It is the commonest form of congenital bowel obstruction and is characterized by the absence of enteric ganglia in distal colon. Recent advances in genome-wide association analysis (GWAS) and next generation sequencing (NGS) studies have led to the discovery of a number of new HSCR candidate genes, thereby providing new insights into the genetic architecture and molecular mechanisms of the disease. Altogether, these findings indicated that genetic heterogeneity, variable penetrance and expressivity, and genetic interaction are the pervasive characteristics of HSCR genetics. In this review, we will provide an update on the genetic landscape of HSCR and discuss how the common and rare variants may act together to modulate the phenotypic manifestation. Translating the genetic findings to genetic risk prediction and to optimize clinical outcomes are undoubtedly the ultimate goals for genetic studies on HSCR. From this perspective, we will further discuss the major obstacles in the clinical translation of these latest genetic findings. Lastly, new measures to address these clinical challenges are suggested to advance precision medicine and to develop novel alternative therapies.

Intestinal Atresias.

Intestinal atresia is a form of congenital bowel obstruction that requires operative repair in the early neonatal period. Duodenal atresia and jejunoileal (JI) atresia are appropriately seen as distinct entities. Both can be suspected with fetal imaging, which can assist with prenatal counseling of families. Duodenal atresia is more commonly associated with comorbidities, whereas JI atresia is more often an isolated finding. Surgical repair is essential and is typically well tolerated. Although it may take time to achieve intestinal function postoperatively, these infants are usually able to tolerate full feeds after resolution of the ileus. Excellent short- and long-term outcomes for isolated duodenal atresia and JI atresia are expected.

Prenatal Detection of Congenital Duodenal Obstruction-Impact on Postnatal Care.

Background: Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenatal care, including surgery. The aim of this study was to investigate the rate and importance of prenatally diagnosed duodenal obstruction, comparing incomplete and complete duodenal obstruction. Methods: A retrospective, single-center study was performed using data from patients operated on for duodenal obstruction between 2004 and 2019. Prenatal ultrasound findings were obtained from maternal logbooks and directly from the investigating obstetricians. Postnatal data were obtained from electronic charts, including imaging, operative notes and follow-up. Results: A total of 33/64 parents of respective patients agreed to provide information on prenatal diagnostics. In total, 11/15 patients with complete duodenal obstruction and 0/18 patients with incomplete duodenal obstruction showed typical prenatal features. Prenatal diagnosis prompted immediate surgical treatment after birth. Conclusion: Prenatal diagnosis of congenital duodenal obstruction is only achievable in cases of complete congenital duodenal obstruction by sonographic detection of the pathognomonic double bubble sign. Patients with incomplete duodenal obstruction showed no sign of duodenal obstruction on prenatal scans and thus were diagnosed and treated later.

The colon membrane as a cause of large bowel obstruction in a child of 11-month old: a case report

Introduction. Colon atresia is a rare form of congenital bowel obstruction. In scientific literature, there are isolated publications devoted to colon atresia, and only some authors discuss the membranous form of atresia.Material and methods. The article describes a rare clinical case of an incomplete colon membrane in an infant. At the age of 11 months, the child developed symptoms of acute intestinal obstruction. Irrigography was performed; Hirschsprung’s disease was suspected. At the first stage, the child was taken a floor-by-floor biopsy of the colon, and an ileostomy was put. Visually, Hirschsprung’s disease seemed to be present; however, histological examination turned aside this diagnosis. Given this, the colon membrane was suspected. Partial resection of the altered part of the sigmoid colon was performed with good clinical effect. Histological examination revealed an incomplete serous-muscular membrane of the colon.Conclusion. Colon atresia is a rare disease that presents a serious problem for diagnosis and treatment. Preoperative morphological verification of the diagnosis is important, even in case when Hirschsprung’s disease seems obvious. Preoperative diagnostics is important because surgical tactics may be considerably different in colon local lesions.

Brown Bowel Syndrome Is a Rare and Commonly Missed Disease: A Case Report and Literature Review

Background. Brown bowel syndrome (BBS) is a rare gastrointestinal condition, and vitamin E deficiency has been considered to be a main contributor. However, vitamin E deficiency has been found in only a few patients throughout the published literature studies and its cutoff lab value for diagnosis is not entirely clarified. Case Presentation. A 56-year-old female patient with a history of congenital bowel obstruction (repaired at birth) presented with bloating, abdominal pain, and chronic diarrhea. Endoscopy identified unremarkable gastrointestinal mucosa except a few small polyps in the colon. A partial obstruction was detected by a small bowel follow-through series and then confirmed by CT scan. The resected small bowel was significantly dilated with a thickened brown wall and extensive serosal adhesion. Microscopic examination revealed unremarkable mucosa, but dense granular brown pigments were identified in the cytoplasm of the smooth muscle cells in the muscularis propria. These deposits resulted to be lipofuscin, and BBS was diagnosed. The patient was asymptomatic at 9-month follow-up after surgery without vitamin E supplement. Conclusion. Mitochondrial damage with lipofuscin deposition is at the root of BBS pathogenesis. Any etiology associated with mitochondrial damage can cause this disease, and vitamin E deficiency is just one of them. Dysmotility from extensive serosal adhesion could be a possible etiology for this patient. Due to overlapping symptoms, lipofuscin deposition primarily in the muscularis propria, and unclear serum value of vitamin E, this syndrome is often missed in routine clinical practice from the superficial biopsy. A transmural biopsy is necessary for a definite diagnosis.

The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia.

IntroductionDuodenal atresia (DA) is a congenital bowel obstruction requiring major surgery in the first week of life. Three morphological phenotypes are described, reflecting increasing degrees of obstruction and discontinuity of the duodenum. The cause of DA is not known. Tandler’s original “solid cord” hypothesis conflicts with recent biological evidence, and is unable to account for differing DA types. In humans, a genetic etiology is supported by the association between Trisomy 21 and DA, and reports of familial inheritance patterns. Interruption of FGF10/FGFR2b signaling is the best demonstrated genetic link to DA in mice, with 35–75% of homozygous knockout embryos developing DA.PurposeThis review examines the current evidence surrounding the etiology of DA. We focus on research regarding FGF10/FGFR2b signaling and its role in duodenal and other intestinal atresia. Further, we outline planned future research in this area, that we consider necessary to validate and better understand this murine model in order to successfully translate this research into clinical practice.ConclusionDetermining the etiology of DA in humans is a clinical and scientific imperative. Fgf10/Fgfr2b murine models represent current science’s best key to unlocking this mystery. However, further research is required to understand the complex role of FGF10/FGFR2b signaling in DA development. Such complexity is expected, given the lethality of their associated defects makes ubiquitous interruption of either Fgf10 or Fgfr2b genes an unlikely cause of DA in humans. Rather, local or tissue-specific mutation in Fgf10, Fgfr2b, or their downstream targets, is the hypothesized basis of DA etiology.

Случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца

Представлен случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца и высокой кишечной непроходимостью. Кариотип ребёнка: 47,XX,+der(22)t(11;22)(q11.2;q23). Приведен краткий обзор данных литературы о механизме возникновения перестройки, клинических проявлениях и генетическом консультировании при синдроме Эмануэль. We report on a case of Emanuel syndrome on a newborn girl with congenital heart defect and high bowel obstruction, karyotype: 47,XX,+der(22)t(11;22)(q11.2;q23)pat. The report contains brief review of information from literature about formation of such rearrangement, clinical implications, and genetic counseling for this syndrome.

Atresia intestinal: a propósito de un caso

El tracto intestinal fetal puede ser alterado por numerosos procesos patológicos, los hallazgos ecográficos típicos de la obstrucción intestinal son dilatación de las asas intestinales en el abdomen fetal proximal a la obstrucción. Aunque la dilatación del intestino grueso de vez en cuando se puede observar, la mayoría de los casos de dilatación del intestino se encuentran en el intestino delgado. El diagnóstico temprano es posible para algunos sitios proximales de obstrucción, como el duodenal y la atresia esofágica.
 De todas las atresias intestinales el 39% corresponde a las de yeyuno íleon y es la causa más común de obstrucción intestinal congénita y de todas estas solo en el 50 a 60% se dan hallazgos ecográficos El objetivo de este trabajo es presentar y discutir en forma crítica el diagnóstico, evaluación y evolución perinatal de un caso de atresia intestinal, así como su diagnóstico diferencial.

Correção Laparoscópica de Atresia Duodenal Associada a Pâncreas Anular

A atresia duodenal é a causa mais comum de obstrução intestinal congénita. Frequentemente associa-se a outras malformações, como o pâncreas anular. A abordagem laparoscópica, ainda que tecnicamente exigente, traz para o recém-nascido benefícios evidentes. Os autores reportam o caso de um recém-nascido com diagnóstico pré-natal de atresia duodenal proposto para laparoscopia, durante a qual foi constatada a existência de pâncreas anular, e realizada a duodeno-duodenostomia em diamante.
 Recebido: 04/06/2016 - Aceite: 06/06/2016

PARTIAL CONGENITAL BOWEL OBSTRUCTION BY DUODENAL ATRESIA WINDSOCKS TYPE: CASE REPORT

<strong>Introduction</strong> Duodenal atresia Windsocks type is a rare condition of congenital bowel obstruction. Thanks to recent technological advancements of prenatal diagnosis it is possible to make a diagnosis of duodenal atresia with high degree of certainty through the radiological sign of “double bubble”, but up to date it is not yet possible to identify the type of duodenal atresia. We report the case of a patient with prenatal diagnosis of “double bubble”. The patient had no other concomitant malformations. <br /><strong>Case Report</strong> The patient came to our attention after prenatal ultrasound that showed a picture of double bubble. At the 27th week of gestation we performed fetal MRI that confirmed the US pattern of double bubble but it did not identify with certainty the type of duodenal atresia. At birth the patient underwent GI rx examination that showed a picture of partial duodenal obstruction compatible with the Windsocks type. On the following day, we performed endoscopy which showed the presence of duodenal membrane, so the patient underwent surgical treatment with a longitudinal duodenal incision in order to treat the wind-sock membrane. After one month a further Upper-GI rx examination showed a regular transit of the contrast. Four months after the first operation the patient underwent new surgical treatment for bowel obstruction by adhesions. The operation was successful and the patient had a complete recover.<br /><strong>Conclusions</strong> Patients with prenatal diagnosis of “double bubble” require a multidisciplinary approach for proper clinical management. Unfortunately it is not currently possible to identify with certainty by prenatal ultrasound the type of duodenal atresia, but in case of incomplete bowel occlusion , the possibility of an atresia Windsocks type should always be considered, especially for setting the right surgical approach.

İnatçı kusma ve malnütrisyonun ayırıcı tanısında duodenal web

Duodenal atresia and stenosis are a common cause of congenital bowel obstruction. Duodenal web is rare, and is a type of congenital duodenal obstruction that occurs by abnormal embryological foregut development. Children with duodenal web are frequently presented with persistent vomiting, abdominal distention and growth retardation. Barium passage graphy and endoscopy are helpful in the diagnosis. In this article, we report an infant with duodenal web who had been investigated because of persistent vomiting and growth retardation, and who was misdiagnosed as gastroesophageal reflux.

A Practical Approach to Emergencies in the Neonatal Period

All emergency departments should be prepared to care for a critically ill infant, including having the appropriate sized equipment. The most common diagnosis in admitted neonates include respiratory infections, sepsis, congenital heart disease, bowel obstruction, hypoglycemia and seizures. Febrile neonates are at high risk for sepsis and therefore need blood, urine and CSF testing. These patients should receive empiric antibiotic therapy in hospital. There are many life-threatening illness that can affect this population and is the responsibility of the emergency physician to assess the neonate, stabilize, narrow the differential diagnosis to the most likely and begin life-sustaining treatment. Very different types of illnesses can affect a child in the neonatal period and some can give us different clinical presentation. For example, the spectrum of congenital heart disease presenting in the newborn period and early infancy ranges from benign to catastrophic. Neonatal seizures may have subtle manifestations and require a different approach than seizures in older infants and children. This is a review of the more common but life threatening pathologic conditions in the neonate if not managed adequately.

Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation

Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination.

Colon agenesis with ileovesical fistula and anorectal malformation

Colonic agenesis is a rare cause of congenital bowel obstruction and is usually associated with other malformations such as abdominal wall defects or gastrointestinal, cardiac, urogenital, and musculoskeletal lesions. Although many uncommon types have been reported, ileovesical fistula (IVF) associated with total colonic agenesis (TCA) has not been reported in a newborn with anorectal malformation (ARM). This is the first report of a 1-day-old newborn with ARM, IVF, and TCA.

Infantile Fibrosarcoma in Neonate

Infantile fibrosarcoma is a rare malignant soft tissue tumor occurring especially in newborn and young children under 2 years. We experienced three cases of infantile fibrosarcoma presenting in the neonatal period. Case 1 presented with a multiseptated cystic mass on his left thigh at birth that was diagnosed as lymphangioma. After picibanil injection, we noted the size of the mass doubled and a solid lesion was prominent in the magnetic resonance image. Case 2 was found to have a reddish mass on his lower back mimicking hemangioma. Over 2 weeks, the mass grew rapidly with internal hemorrhaging. Case 3 was noted to have an encircling mass around the splenic flexure, which developed into congenital bowel obstruction. All of the tumors were resected completely, but microscopic resection margin was not clear in two patients. The two patients received adjuvant chemotherapy and all patients are well without evidence of recurrence. (J Korean Surg Soc 2010;79:S62-66)

Congenital ileal atresia presenting as a single cyst-like dilated bowel on prenatal sonography at late third trimester: two case reports

Description of case(s): Congenital bowel obstruction produces distension of proximal bowel loops. The number of distended bowel loops depends on the site of obstruction. We report two cases of ileal atresia that appeared as a single bubble-like dilatation of small bowel on late third-trimester prenatal sonography. The gestational age was 36 weeks at first diagnosis. Mid-trimester sonographies showed no abnormality. No case showed polyhydramnios. The diameter of distended bowel loops was 20 mm in two cases. After birth, small bowel distension was progressed. One baby had colon study before operation, which showed microcolon. Exploratory laparotomy revealed distal ileal atresia in both cases. There was no evidence of intestinal malrotation or volvulus.Proof of diagnosis: We performed an operation with pathologic examination.Relevance: We found fetal anomaly and ultrasound intestinal obstruction. Description of case(s): Congenital bowel obstruction produces distension of proximal bowel loops. The number of distended bowel loops depends on the site of obstruction. We report two cases of ileal atresia that appeared as a single bubble-like dilatation of small bowel on late third-trimester prenatal sonography. The gestational age was 36 weeks at first diagnosis. Mid-trimester sonographies showed no abnormality. No case showed polyhydramnios. The diameter of distended bowel loops was 20 mm in two cases. After birth, small bowel distension was progressed. One baby had colon study before operation, which showed microcolon. Exploratory laparotomy revealed distal ileal atresia in both cases. There was no evidence of intestinal malrotation or volvulus. Proof of diagnosis: We performed an operation with pathologic examination. Relevance: We found fetal anomaly and ultrasound intestinal obstruction.

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. Copyright 2002, Elsevier Science (USA). All rights reserved.

Swallowing dysfunction in infants less than 1 year of age.

Gastroesophageal reflux (GER) occurs frequently in infants and children and is implicated as a trigger for reactive airways disease. While evaluating patients for GER by upper gastrointestinal studies (UGI), we frequently noticed laryngeal penetration or tracheal aspiration in infants < 1 year of age. We conducted this prospective study to assess the incidence of swallowing dysfunction in infants with vomiting or respiratory symptoms. Between February 1994 and August 1997, 1,003 UGI in infants < 1 year of age were performed by two experienced pediatric radiologists. Fluoroscopy of swallowing using an appropriate image intensifier was observed as part of the UGI in all patients. In addition to evaluating premature infants, former premature infants, and infants with underlying conditions such as bronchopulmonary dysplasia (BPD), congenital heart disease (CHD), esophageal atresia and/or tracheoesophageal fistula (EA), and neurologic disorders, we assessed swallowing in 472 full-term infants in the general population who had respiratory symptoms or suspected GER, but no other apparent abnormalities. Swallowing was not assessed in patients with congenital bowel obstruction. The presence of normal swallowing or swallowing dysfunction was recorded immediately following the study. Chest radiographs obtained on the same day as the UGI were evaluated in the study. Forty-four videotaped modified barium-swallow studies (MBSS) were obtained in 25 general-population infants and reviewed frame-by-frame to determine the length of time that barium could be visualized in the subglottic trachea. The incidence of swallowing dysfunction is significant in premature and former premature infants, those with BPD, CHD, EA, various syndromes, and neurologic abnormality. In the general population of full-term infants referred for evaluation of vomiting or respiratory symptoms, 63 (13.4 % of 472) had swallowing dysfunction. Forty-four had tracheal aspiration (TA) and 19 had laryngeal penetration (LP). Gastroesophageal reflux was found in 79.5 % with TA and in 68.4 % with LP. The MBSS confirmed swallowing dysfunction in all patients shown to have vocal cord penetration or tracheal aspiration by UGI. Careful evaluation of swallowing during an UGI can identify swallowing dysfunction in full-term infants who have respiratory problems, as well as in infants with an abnormality that predisposes the patient to aspiration. Episodes of tracheal aspiration may be fleeting and overlooked if swallowing is not assessed carefully. An MBSS can confirm the observation of swallowing dysfunction found during an UGI and assist in planning appropriate dietary therapy that minimizes the likelihood of tracheal aspiration during feeding.

Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease.

Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Mice that carry null alleles for RET or for its ligand, glial cell line-derived neurotrophic factor (GDNF), both exhibit complete intestinal aganglionosis and renal defects. Recently, the Src homology 2 (SH2) domain-containing protein Grb10 has been shown to interact with RET in vitro and in vivo, early in development. We have confirmed the map location of GRB10 on human chromosome 7, isolated human BACs containing the gene, elucidated its genomic structure, isolated a highly polymorphic microsatellite marker adjacent to exon 14 and scanned the gene for mutations in a large panel of HSCR patients. No evidence of linkage was detected in HSCR kindreds and no mutations were found in patients. These data suggest that while GRB10 may be important for signal transduction in developing embryos, it does not play an obvious role in HSCR.