Difference between revisions of "Talk:Gastrointestinal Tract - Abnormalities"
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--[[User:Z8600021|Mark Hill]] ([[User talk:Z8600021|talk]]) 08:54, 16 March 2019 (AEDT) Removed this section from page. Heart abnormality?
--[[User:Z8600021|Mark Hill]] ([[User talk:Z8600021|talk]]) 08:54, 16 March 2019 (AEDT) Removed this section from page. Heart abnormality?
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'''Search PubMed:''' [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&term=Situs+Inversus+Viscerum Situs Inversus Viscerum] | [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&term=Heterotaxia Heterotaxia]
'''Search PubMed:''' [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&term=Situs+Inversus+Viscerum Situs Inversus Viscerum] | [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&term=Heterotaxia Heterotaxia]
===Small Bowel Congenital Anomalies: a Review and Update===
===Small Bowel Congenital Anomalies: a Review and Update===
Revision as of 00:22, 2 June 2019
|About Discussion Pages|
Cite this page: Hill, M.A. (2021, February 28) Embryology Gastrointestinal Tract - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Gastrointestinal_Tract_-_Abnormalities
Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias.
Search PubMed: Pyloric Atresia
Search PubMed: Biliary Atresia
Small Intestine Atresia
Search PubMed: Small Intestine Atresia
Search PubMed: Anorectal Atresia
A narrowing of the lumen (esophageal stenosis, duodenal stenosis, pyloric stenosis)
Situs Inversus Viscerum
Situs inversus viscerum is a disturbance of the lateralisation of the liver may produce transposition of some or all of the foregut and its derivatives.
Also in situs inversus the anatomical relations of the duodenum, pancreas, bile ducts and portal veins may be reversed or disordered.
Heterotaxia is a term used to describe the rare congenital defect where the major visceral organs are distributed left-right abnormally within the chest and abdomen.
Ultrasound Q. 2016 Mar;32(1):15-24. doi: 10.1097/RUQ.0000000000000162. Prenatal Imaging of the Gastrointestinal Tract with Postnatal Imaging Correlation. Blask AN1, Fagen K. Author information Abstract Prenatal detection of a wide variety of anomalies and masses of the gastrointestinal tract is now possible. Prenatal imaging with ultrasonography and in selected cases magnetic resonance imaging provides invaluable information to the referring obstetrician, the maternal fetal medicine specialist, the neonatologist and pediatrician who will care for the child after birth, the surgeons and pediatric specialists who will repair or manage a prenatally detected anomaly, and of course to the parents, allowing them to prepare psychologically and financially for the specific interventions that may be needed for their child. Additional screening for associated anomalies can take place, route of delivery can be decided, and arrangements for delivery in an appropriate setting can be made. Prenatal detection also allows for consideration for pregnancy termination. This article will give a broad overview of anomalies of the gastrointestinal tract that can be detected prenatally and their imaging appearance postnatally.
PMID: 26086457 DOI: 10.1097/RUQ.0000000000000162
Small Bowel Congenital Anomalies: a Review and Update
Curr Gastroenterol Rep. 2016 Apr;18(4):16. doi: 10.1007/s11894-016-0490-4.
Morris G1, Kennedy A Jr2, Cochran W3.
Abstract The small intestine is a complex organ system that is vital to the life of the individual. There are a number of congenital anomalies that occur and present most commonly in infancy; however, some may not present until adulthood. Most congenital anomalies of the small intestine will present with obstructive symptoms while some may present with vomiting, abdominal pain, and/or gastrointestinal bleeding. Various radiologic procedures can aid in the diagnosis of these lesions that vary depending on the particular anomaly. Definitive therapy for these congenial anomalies is surgical, and in some cases, surgery needs to be performed urgently. The overall prognosis of congenital anomalies of the small intestine is very good and has improved with improved medical management and the advent of newer surgical modalities. The congenital anomalies of the small intestine reviewed in this article include malrotation, Meckel's diverticulum, duodenal web, duodenal atresia, jejunoileal atresia, and duplications. KEYWORDS: Congenital anomalies; Duodenal atresia; Duodenal web; Intestinal atresia; Jejunoileal atresia; Malrotation; Meckel’s diverticulum; Small bowel; Small bowel duplications; Small intestine PMID: 26951229 DOI: 10.1007/s11894-016-0490-4 [Indexed for MEDLINE]
Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele
Dis Model Mech. 2018 Oct 25;11(10). pii: dmm034611. doi: 10.1242/dmm.034611.
Takahashi M1, Tamura M2, Sato S1, Kawakami K3.
Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes Six4 and Six5 showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW. Six4-/-;Six5-/- fetuses exhibited a large omphalocele with protrusion of both the liver and intestine, or a small omphalocele with protrusion of the intestine, with complete penetrance. The umbilical ring of Six4-/-;Six5-/- embryos was shifted anteriorly and its lateral size was larger than that of normal embryos at the E11.5 stage, before the onset of myoblast migration into the PAW. The proliferation rates of surface ectodermal cells in the left and right PAW and somatic mesoderm-derived cells in the right PAW were lower in Six4-/-;Six5-/- embryos than those of wild-type embryos at E10.5. The transition from CECs of the PAW to rounded mesothelial progenitor cells was impaired and the inner coelomic surface of the PAW was relatively smooth in Six4-/-;Six5-/- embryos at E11.25. Furthermore, Six4 overexpression in CECs of the PAW promoted ingression of CECs. Taken together, our results suggest that Six4 and Six5 are required for growth and morphological change of the PAW, and the impairment of these processes is linked to the abnormal positioning and expansion of the umbilical ring, which results in omphalocele. KEYWORDS: Coelomic epithelial cells; Mesothelium; Mouse; Omphalocele; Primary body wall; Six4/Six5 PMID: 30237319 DOI: 10.1242/dmm.034611
Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions
J Matern Fetal Neonatal Med. 2018 Apr 12:1-6. doi: 10.1080/14767058.2018.1460350. [Epub ahead of print]
Orgul G1, Soyer T2, Yurdakok M3, Beksac MS1.
PURPOSE: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. MATERIALS AND METHODS: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations. GIT obstructions were divided into five groups according to the level of obstruction (A. esophagus, B. stomach and proximal duodenum, C. small intestine, D. large intestine, E. multiple obstructions). RESULTS: The prenatal detection rate among all cases was 60.7%. The associated structural malformation and aneuploidy rates were 21.4 and 5.4%, respectively. Twelve neonates died within the first day after birth due to various reasons. The remaining 43 babies underwent surgery at different times according to their clinical conditions. The mean time between birth and surgery was 4.5 days (range, 1-56 days). There were 12 postoperative deaths due to various complications, and one case died at 2 years of age. Overall, 31 of the 56 (55.4%) babies were alive during the follow-up period. The successful prenatal diagnosis rates were 57.2, 85.8, 75, 25, and 80% in groups A, B, C, D, and E, respectively. The median birth weight increased significantly in groups A through D (p = .04). However, there were no intergroup differences in the Apgar scores, associated abnormality rates, time to surgery, and number of babies operated. CONCLUSIONS: These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities. KEYWORDS: Congenital abnormalities; gastrointestinal tract; perinatal mortality; prenatal ultrasonography PMID: 29606013 DOI: 10.1080/14767058.2018.1460350
US of Gastrointestinal Tract Disease
Radiographics. 2015 Jan-Feb;35(1):50-68. doi: 10.1148/rg.351140003.
Muradali D1, Goldberg DR.
The potential use of ultrasonography (US) in evaluating gut disease has been underappreciated in most diagnostic imaging departments in North America. The impression that US has a questionable role in bowel assessment is related to the operator-dependent nature of the modality, the technical challenges of performing bowel US examinations, and the lack of familiarity of radiologists and technologists with the US appearances of normal and abnormal bowel. However, with development of technical experience by the sonographer and integration of a clinical focus at patient evaluation, US can become a powerful tool for bowel assessment. Unlike computed tomography and magnetic resonance imaging, it provides a widely available, noninvasive, inexpensive method for evaluating the gut without the use of ionizing radiation. These factors are of particular importance in young patients and those who require recurrent follow-up imaging. Because US is performed with real-time imaging, the modality also allows the sonographer to view and assess the motility properties of the bowel, a feature that has not been previously used to its full potential. Color Doppler US can yield useful information about mural vascularity in bowel disease when used in conjunction with gray-scale findings and clinical symptoms. Radiologists should be familiar with the static and dynamic US appearances of the normal and abnormal bowel, recognize features of various pathologic conditions, and understand potential errors at imaging interpretation. Online supplemental material is available for this article. (©)RSNA, 2015.
Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele
Early Hum Dev. 2015 Feb 9;91(3):187-193. doi: 10.1016/j.earlhumdev.2014.12.009. [Epub ahead of print]
Danzer E1, Gerdes M2, D'Agostino JA2, Bernbaum J2, Hoffman C2, Rintoul NE2, Herkert LM2, Flake AW2, Adzick NS2, Hedrick HL2.
OBJECTIVE: To examine patient-specific factors as potential predictors of neurodevelopmental (ND) outcome in children with giant omphalocele (GO). MATERIALS: Between 06/2005 and 07/2012, 31 consecutive GO survivors underwent ND assessment using the BSID-III at a median of 24months (range 6-35). ND delay was defined by a score of ≤84 in any composite score. Severe impairments were defined as a score of ≤69 in at least one domain. Correlations between ND outcome and patient-specific factors were analyzed by one-way ANOVA, chi-square, or logistic regression as appropriate. RESULTS: The mean cognitive score (86.8±16.8) was in the low average range. Mean language (83.2±21.1) and motor (81.5±16.2) scores were below average. Forty-six-percent scored within the average range for all scales. Mild deficits were found in 19%, and 35% had severe delays in at least one domain. Hypotonicity was present in 55%. Autism was suspected/confirmed in 13%. Predictors of lower ND scores were prolonged ventilator support (P<0.01), high-frequency oscillatory ventilation (P<0.01), tracheostomy placement (P<0.001), O2 supplementation at day of life 30 (P<0.02), pulmonary hypertension (P<0.02), delayed enteral feeding (P=0.01), need for feeding tube (P<0.001), GERD (P=0.05), abnormal BAER hearing screen (P<0.006), prolonged hospitalization (P=0.01), and failure to thrive (P=0.001). Autism was associated with delays in cognitive and language outcomes (P<0.03). Delayed staged closure (P=0.007), older age at final repair (P=0.03), and hypotonicity (P=0.02) were associated with motor dysfunction. CONCLUSIONS: Neurological impairments were present in more than half of GO survivors. Disease severity was associated with ND dysfunction. Autism and hypotonicity were often co-morbidities with ND delays and poor motor function. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved. KEYWORDS: Autism; Bayley Scales of Infant Development; Giant omphalocele; Neurodevelopmental outcome; Pulmonary hypoplasia
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
Indian J Hum Genet. 2014 Apr;20(2):195-8. doi: 10.4103/0971-6866.142906.
Mandrekar SR1, Amoncar S1, Banaulikar S2, Sawant V3, Pinto RG1.
OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors. KEYWORDS: Body stalk anomaly; OEIS complex (omphalocele, exstrophy of cloaca, imperforate anus and spinal defect); limb body wall complex
Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease
Int J Med Sci. 2014 Jan 20;11(3):262-7. doi: 10.7150/ijms.7287. eCollection 2014.
Wang LL, Gu H, Fan Y, Zhang Y, Wu D, Miao JN, Huang TC, Li H, Yuan ZW. Author information
BACKGROUND: In a subset of patients with Hirschsprung's disease (HSCR), gastrointestinal motor dysfunction persisted long after surgical correction. Gastrointestinal motility is achieved through the coordinated activity of the enteric nervous system, interstitial cells of Cajal, and smooth muscle (SMC) cells. Inhibition of four-and-a-half LIM protein-1 (Fhl1) expression by siRNA significantly decreases pulmonary artery SMCs migration and proliferation. Furthermore when up-expressing FHL1 in atrial myocytes, K (+) current density markedly increases, therefore changing myocytes' response to an electrical stimulus. However whether FHL1 in colon SMCs (the final effector organ) influences intestinal motility in HSCR patients has not been clarified. METHODS: FHL1 mRNA and protein expressions were analyzed in 32 HSCR colons and 4 normal colons. RESULTS: Smooth muscle layers were thicken and disorganized in HSCR. FHL1 was expressed in the ganglion cells of the myenteric plexus, submucosa, as well as in the longitudinal and circular muscle layer of the ganglionic colon. FHL1 mRNA relative expression level in aganglionic colons was 1.06 ± 0.49 (ganglionic colon relative expression level was 1) (P=0.44). FHL1 protein gray level relative to GAPDH in normal colons was 0.83 ± 0.09. FHL1 expression level in ganglionic colon (1.66 ± 0.30) or aganglionic colon (1.81 ± 0.35) was significantly higher than that in normal colons (P=0.045 and P=0.041, respectively). Meanwhile, we found FHL1 expression in aganglionic colon was slightly stronger than that in ganglionic colon (P=0.036). CONCLUSION: These data suggested that up-regulated FHL1 in smooth muscle in HSCR might be associated with intestinal wall remodeling in HSCR and might be one of the risk factors for gastrointestinal motor dysfunction. KEYWORDS: FHL1, Hirschsprung's disease, expression, prognosis, smooth muscle
Tissue interactions in neural crest cell development and disease
Science. 2013 Aug 23;341(6148):860-3. doi: 10.1126/science.1230717.
Takahashi Y1, Sipp D, Enomoto H. Author information
The neural crest is a transient population of migratory cells in the embryo that gives rise to a wide variety of different cell types, including those of the peripheral nervous system. Dysfunction of neural crest cells (NCCs) is associated with multiple diseases, such as neuroblastoma and Hirschsprung disease. Recent studies have identified NCC behaviors during their migration and differentiation, with implications for their contributions to development and disease. Here, we describe how interactions between cells of the neural crest and lineages such as the vascular system, as well as those involving environmental signals and microbial pathogens, are critically important in determining the roles played by these cells.
Expression of dishevelled gene in Hirschsprung's disease
Int J Clin Exp Pathol. 2013 Aug 15;6(9):1791-8. eCollection 2013.
Chen D1, Mi J, Wu M, Wang W, Gao H. Author information
Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system and is characterized by an absence of enteric ganglion cells in terminal regions of the gut during development. Dishevelled (DVL) protein is a cytoplasmic protein which plays pivotal roles in the embryonic development. In this study, we explore the cause of HSCR by studying the expression of DVL-1 and DVL-3 genes and their proteins in the aganglionic segment and the ganglionic segment of colon in HSCR patients. MATERIALS AND METHODS: Specimen of aganglionic segment and ganglionic segment of colon in 50 cases of HSCR patients. Expression levels of mRNA and proteins of DVL-1 and DVL-3 were confirmed by quantitative real-time PCR (qRT-PCR), western blot and immunohistochemistry staining between the aganglionic segment and the ganglionic segment of colon in HSCR patients. RESULTS: The mRNA expression of DVL-1 and DVL-3 were 2.06 fold and 3.12 fold in the aganglionic segment colon tissues compared to the ganglionic segment, respectively. Similarly, the proteins expression of DVL-1 and DVL-3 were higher (39.71 ± 4.53 vs and 53.90 ± 6.79 vs) in the aganglionic segment colon tissues than in the ganglionic segment (15.01 ± 2.66 and 20.13 ± 3.63) by western blot. Besides, immunohistochemical staining showed that DVL-1 and DVL-3 have a significant increase in mucous and submucous layers from aganglionic colon segments compared with ganglionic segments. CONCLUSION: The study showed an association of DVL-1 and DVL-3 with HSCR, it may play an important role in the pathogenesis of HSCR. KEYWORDS: Hirschsprung’s disease, dishevelled-1 and dishevelled-3, expression, gene and protein
Nonrotation of intestine: a case report
J Clin Diagn Res. 2013 Nov;7(11):2575-6. doi: 10.7860/JCDR/2013/6177.3616. Epub 2013 Nov 10.
Appaji AC1, Kulkarni R2, Kadaba JS3. Author information
Nonrotation of intestine is a congenital abnormality of the midgut which is due to error in the process of rotation. Errors in the 2nd and 3rd stage of rotation can lead to series of abnormalities in the form of malrotation and reversed rotation. As a consequence, the relative position of other organs likes caecum, intestine, meckel's diverticulum changes. This can lead to missing diagnosis of common clinical conditions such as appendicitis. The incidence of nonrotation is 1:500. The congenital abnormality appears to be rare as this could be an incidental abnormality. The symptoms of nonrotation of intestine could be biliary vomiting, recurrent abdominal pain. This could be due to midgut volvulus and intestinal obstruction which happens as a consequence of nonrotation of the intestine. The investigations used for detection and confirmation are CT Imaging. Other associations of nonrotation of the intestine are peritoneal bands. Here we report a case of nonrotation of intestines. In the cadaver of age around 70 years, the small intestinal loops was situated in the right side of the abdominal cavity and large intestine looped on the left side of the abdominal cavity. This was also associated with aberrant position of the caecum and appendix. There were associated peritoneal bands extending from the ascending colon to the left side the abdominal wall. The bands had been removed to visualize the large intestinal loops. KEYWORDS: Intestinal obstruction, Nonrotation, Peritoneal bands, Volvulus
Characteristics and management of congenital esophageal stenosis: findings from a multicenter study
Orphanet J Rare Dis. 2013 Dec 1;8:186. doi: 10.1186/1750-1172-8-186.
Michaud L, Coutenier F, Podevin G, Bonnard A, Becmeur F, Khen-Dunlop N, Auber F, Maurel A, Gelas T, Dassonville M, Borderon C, Dabadie A, Weil D, Piolat C, Breton A, Djeddi D, Morali A, Bastiani F, Lamireau T, Gottrand F. Author information
BACKGROUND: Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES. METHODS: Medical records of all patients with CES included in the French Network on Esophageal Malformations and Congenital Diseases were reviewed retrospectively with regard to diagnosis, treatment, and outcome. RESULTS: Over 18 years, 61 patients (30 boys) had CES, and 29 (47%) of these patients also had EA. The mean age at diagnosis was 24 months (1 day to 14 years) and was younger in patients with CES and EA than in those with isolated CES (7 vs. 126 months, p < 0.05). Twenty-one of the 61 patients with CES had no clinical symptoms: in three patients, the findings were incidental, and in 18 of the 29 patients with associated EA, CES was diagnosed at the time of surgical repair of EA or during a postoperative systematic esophageal barium study. In the 40 other patients, at diagnosis, 50% presented with dysphasia, 40% with vomiting, 50% with food impaction, and 42% with respiratory symptoms. Diagnosis of CES was confirmed by esophageal barium study (56/61) and/or esophageal endoscopy (50/61). Sixteen patients had tracheobronchial remnants (TBR), 40 had fibromuscular stenosis (FMS), and five had membrane stenosis (MS). Thirty-four patients (56%) were treated by dilation only (13/34 remained asymptomatic at follow-up); 15 patients were treated by dilation but required later surgery because of failure (4/15 remained asymptomatic at follow-up); and nine patients had a primary surgical intervention (4/9 were asymptomatic at follow-up). Dilation was complicated by esophageal perforation in two patients (3.4%). At follow-up, dysphagia remained in 36% (21/58) of patients, but the incidence did not differ between the EA and the isolated CS groups (10/29 vs. 7/32, p = 0.27). CONCLUSIONS: CS diagnosis can be delayed when associated with EA. Dilation may be effective for treating patients with FMS and MS, but surgical repair is often required for those with TBR. Our results show clearly that, regardless of the therapeutic option, dysphagia occurs frequently, and patients with CES should be followed over the long term.
A prospective observational study of associated anomalies in Hirschsprung's disease
Orphanet J Rare Dis. 2013 Nov 23;8(1):184. doi: 10.1186/1750-1172-8-184.
Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P, Ceccherini I, Mavilio D, Jasonni V, Tuo G, Derchi M, Marasini M, Magnano G, Granata C, Ghiggeri G, Priolo E, Sposetti L, Porcu A, Buffa P, Mattioli G. Source Department of Pediatric Surgery, Istituto Giannina Gaslini, Largo G, Gaslini, 5, 16100 Genoa, Italy. email@example.com.
BACKGROUND: Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm. METHODS: After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features. RESULTS: Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies. CONCLUSIONS: Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.
Disturbed balance between SOX2 and CDX2 in human vitelline duct anomalies and intestinal duplications
Virchows Arch. 2013 Apr 9. [Epub ahead of print]
Raghoebir L, Biermann K, Buscop-van Kempen M, Wijnen RM, Tibboel D, Smits R, Rottier RJ. Source Department of Pediatric Surgery, of the Erasmus MC, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.
Congenital gastric-type heteroplasia is common in intestinal duplications and anomalies, which originate from incomplete resorption of the omphalomesenteric duct during development. Two transcription factors determine the proximodistal specification of the gastrointestinal tract, SOX2, expressed exclusively in the proximal part of the primitive gut, and CDX2, expressed solely in the distal part. Aberrant expression of these factors may result in abnormal development and congenital abnormalities. Therefore, we analyzed the expression of SOX2 and CDX2 in a number of pediatric intestinal anomalies. We investigated the expression pattern of SOX2 and CDX2 in three congenital intestinal anomalies in which ectopic gastric tissue may be present, Meckel's diverticulum (N = 8), persistent ductus omphalomesentericus (N = 14), and intestinal duplications (N = 8). CDX2, but not SOX2, was detected in intestinal epithelial cells in tissue lacking gastric heteroplasia. In gastric-type heteroplasia, a reciprocal expression pattern existed between SOX2 and CDX2 in the gastric and intestinal tissues, respectively. Interestingly, patches of CDX2-positive cells were present within the gastric mucosa in a subset of Meckel's diverticula and intestinal duplications, suggesting that it is not the absence of CDX2, but rather the ectopic expression of SOX2 that leads to gastric tissue in the prospective intestinal tissue. This is in concordance with our previous mouse studies. Collectively, our data indicate that a fine balance between SOX2 and CDX2 expression in the gastrointestinal tract is essential for proper development and that ectopic expression of SOX2 may lead to malformations of the gut. PMID 23568430
Planar cell polarity genes control the connectivity of enteric neurons
J Clin Invest. 2013 Mar 8. pii: 66759. doi: 10.1172/JCI66759. [Epub ahead of print]
Sasselli V, Boesmans W, Berghe PV, Tissir F, Goffinet AM, Pachnis V. Abstract
A highly complex network of intrinsic enteric neurons is required for the digestive and homeostatic functions of the gut. Nevertheless, the genetic and molecular mechanisms that regulate their assembly into functional neuronal circuits are currently unknown. Here we report that the planar cell polarity (PCP) genes Celsr3 and Fzd3 are required during murine embryogenesis to specifically control the guidance and growth of enteric neuronal projections relative to the longitudinal and radial gut axes. Ablation of these genes disrupts the normal organization of nascent neuronal projections, leading to subtle changes of axonal tract configuration in the mature enteric nervous system (ENS), but profound abnormalities in gastrointestinal motility. Our data argue that PCP-dependent modules of connectivity established at early stages of enteric neurogenesis control gastrointestinal function in adult animals and provide the first evidence that developmental deficits in ENS wiring may contribute to the pathogenesis of idiopathic bowel disorders.
Development and developmental disorders of the enteric nervous system
Nat Rev Gastroenterol Hepatol. 2013 Jan;10(1):43-57. doi: 10.1038/nrgastro.2012.234. Epub 2012 Dec 11.
Obermayr F, Hotta R, Enomoto H, Young HM. Source Department of Pediatric Surgery, University Children's Hospital, University of Tübingen, Hoppe-Seyler Straße 3, Tübingen 72076, Germany.
The enteric nervous system (ENS) arises from neural crest-derived cells that migrate into and along the gut, leading to the formation of a complex network of neurons and glial cells that regulates motility, secretion and blood flow. This Review summarizes the progress made in the past 5 years in our understanding of ENS development, including the migratory pathways of neural crest-derived cells as they colonize the gut. The importance of interactions between neural crest-derived cells, between signalling pathways and between developmental processes (such as proliferation and migration) in ensuring the correct development of the ENS is also presented. The signalling pathways involved in ENS development that were determined using animal models are also described, as is the evidence for the involvement of the genes encoding these molecules in Hirschsprung disease-the best characterized paediatric enteric neuropathy. Finally, the aetiology and treatment of Hirschsprung disease in the clinic and the potential involvement of defects in ENS development in other paediatric motility disorders are outlined.
Muscle patterning in mouse and human abdominal wall development and omphalocele specimens of humans
Anat Rec (Hoboken). 2012 Dec;295(12):2129-40. doi: 10.1002/ar.22556. Epub 2012 Sep 14.
Nichol PF, Corliss RF, Yamada S, Shiota K, Saijoh Y. Source Department of Surgery, Section of Pediatric Surgery, University of Wisconsin SMPH, Madison, Wisconsin, USA.
Human omphalocele is a congenital defect of the abdominal wall in which the secondary abdominal wall structures (muscle and connective tissue) in an area centered around the umbilicus are replaced by a translucent membranous layer of tissue. Histological examination of omphalocele development and moreover the staging of normal human abdominal wall development has never been described. We hypothesized that omphalocele is the result of an arrest in the secondary abdominal wall development and predicted that we would observe delays in myoblast maturation and an arrest in secondary abdominal wall development. To look for evidence in support of our hypothesis, we performed a histological analysis of normal human abdominal wall development and compared this to mouse. We also conducted the first histological analysis of two human specimens with omphalocele. In these two omphalocele specimens, secondary abdominal wall development appears to have undergone an arrest around Carnegie Stage 19. In both specimens disruptions in the unidirectional orientation of myofibers were observed in the external and internal obliques, and rectus abdominis but not in the transversus abdominis. These latter findings support a model of normal abdominal wall development in which positional information instructs the orientation of myoblasts as they organize into individual muscle groups. Copyright © 2012 Wiley Periodicals, Inc.
The gastroschisis prognostic score: reliable outcome prediction in gastroschisis
J Pediatr Surg. 2012 Jun;47(6):1111-1117.
Cowan KN, Puligandla PS, Laberge JM, Skarsgard ED, Bouchard S, Yanchar N, Kim P, Lee S, McMillan D, von Dadelszen P; The Canadian Pediatric Surgery Network. Source Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada K1H 8L1.
BACKGROUND/PURPOSE: Disease-specific outcome predictors are required for gastroschisis. We derived and validated a gastroschisis prognostic score (GPS) based on bowel appearance after birth. METHODS: Visual scoring of bowel matting, necrosis, atresia, and perforation generated a novel gastroschisis bowel injury score recorded in a national database. Reweighting of score components by regression analysis led to assessments of model calibration and goodness of fit. The GPS was validated in subsequent cases. RESULTS: Records from 225 infants were used for model derivation. Only intestinal necrosis independently predicted mortality by regression analysis (odds ratio, 11.5; 95% confidence interval, 4.2-31.4). Model recalibration identified that a GPS of 4 or more predicted mortality in 75% of nonsurvivors and 99% of survivors (P = .0001). A GPS of 2 or more demonstrated significantly worse survival outcomes compared with scores of 0 or 1 (length of stay: P = .011, days to first enteral feed: P = .013, days on total parenteral nutrition: P = .006). Model validation with 184 new patients yielded continued high-quality discrimination of outcomes. The GPS demonstrated "near-perfect" interobserver reliability between 2 surgeons (κ ≥ 0.86). CONCLUSIONS: The GPS allows the accurate and reliable identification of high-risk groups for mortality and morbidity based on bowel appearance at birth. This information can drive discussions regarding family counseling, resource allocation, and new therapies for these patients. Copyright © 2012 Elsevier Inc. All rights reserved.
Orphanet J Rare Dis. 2011 Dec 7;6:81.
Leboulanger N, Garabédian EN. Source Paediatric Otolaryngology-Head and Neck surgery Department, UPMC-Paris VI University, Armand-Trousseau Children's Hospital, Paris, France. firstname.lastname@example.org
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
Gastroschisis: one year outcomes from national cohort study
BMJ 2011; 343 doi: 10.1136/bmj.d6749 (Published 15 November 2011)
Cite this as: BMJ 2011;343:bmj.d6749
Australian ABC story on Cluster statistics http://www.abc.net.au/news/stories/2011/05/14/3216786.htm
Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans
Clin Invest. 2011 Sep 1;121(9):3467-78. doi: 10.1172/JCI43737. Epub 2011 Aug 15.
Ngan ES, Garcia-Barceló MM, Yip BH, Poon HC, Lau ST, Kwok CK, Sat E, Sham MH, Wong KK, Wainwright BJ, Cherny SS, Hui CC, Sham PC, Lui VC, Tam PK.
Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR.
Gastrointestinal system malformations in children are associated with congenital heart defects
Anadolu Kardiyol Derg. 2011;11(2):146-9. doi: 10.5152/akd.2011.034. Epub 2011 Feb 23. Orün UA, Bilici M, Demirçeken FG, Tosun M, Ocal B, Cavuşoğlu YH, Erdoğan D, Senocak F, Karademir S. Source Clinic of Pediatric Cardiology, Department of Pediatric Cardiology, Faculty of Medicine, Fatih University, Ankara, Turkey. Abstract OBJECTIVE: To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM.
METHODS: Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data.
RESULTS: Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM.
CONCLUSION: We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.
PMID: 21342865 http://www.ncbi.nlm.nih.gov/pubmed/21342865
A case of congenital duodenal web causing duodenal stenosis in a down syndrome child: endoscopic resection with an insulated-tip knife
Gut Liver. 2011 Mar;5(1):105-9. Epub 2011 Mar 16.
Lee SS, Hwang ST, Jang NG, Tchah H, Choi DY, Kim HY, Ryoo E. Source Department of Pediatrics, Gachon University of Medicine and Science Graduate School of Medicine, Incheon, Korea.
Abstract A 35-month-old girl visited our hospital with repetitive vomiting and abdominal distention; this was especially aggravated after the introduction of solid and semisolid foods. At 5 months of age, the patient, who had Down's syndrome, had undergone surgery for ventricular septal defect, atrial septal defect, and patent ductus arteriosus, and had subsequently been frequently hospitalized for respiratory infections and other viral infectious diseases. After her admission, the abdominal distension improved with fasting and intravenous fl uid therapy. Radiograph from a small-bowel series revealed a thin fi lling defect with a dilated duodenal bulb in the distal region of the second portion of the duodenum, suggesting a duodenal web, and endoscopy revealed duodenal stenosis. We therefore performed endoscopic resection with an insulated-tip knife because of the history of prior operations, fasting problems after operations, and respiratory infections. Seven days later, scar formation was noted on the second portion of the duodenum, the scope passed well at the excision site, and no retained food material was noted on the follow-up endoscopy. After the procedure, the patient's abdominal distention and repetitive vomiting subsided, and she was discharged with the ability to eat eat an age-appropriate normal diet. There were no specifi c symptoms or other complications for 1 year after the procedure.
PMID: 21461083 http://www.ncbi.nlm.nih.gov/pubmed/21461083
Fig. 1 The findings of the gastrointestinal barium study. (A) A beak-like narrowing of the distal esophagus up to the gastroesophageal junction with mild passage disturbance, and a thin filling defect are noted on the distal region of the second portion of the duodenum. (B) Contrast is retained on the dilated stomach and duodenal bulb.
Fig. 3 Initial endoscopic findings. (A) A mucosal diaphragm is seen on the second portion of the duodenum, suggesting a duodenal web. (B) A mucosal diaphragm in the second portion of the duodenum shows a stenotic lumen.
The embryologic origin of ventral body wall defects
Semin Pediatr Surg. 2010 Aug;19(3):209-14. doi: 10.1053/j.sempedsurg.2010.03.006.
Sadler TW. Source Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. email@example.com
Ventral body wall defects include ectopia cordis, bladder exstrophy, and the abdominal wall malformations gastroschisis and omphalocele. The etiology of ectopia cordis, gastroschisis, and bladder exstrophy is not known, but they may be linked to abnormalities in the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall. These folds form in the fourth week (postfertilization) of development as a combination of the parietal layer of lateral plate mesoderm and overlying ectoderm and must move ventrally to meet in the midline. There are differential rates of cell proliferation in the folds and asymmetries in their movement that may be involved in teratogenic effects of toxic factors. Also, the fusion process between the folds is complex, involving cell-to-cell adhesion, cell migration, and cell reorganization and all of these phenomena may be targets for disruption, leading to malformations. In this regard, closure of the ventral body wall is likened to neural tube closure and involves similar processes. It also encompasses a similar time frame during development, such that most neural tube and ventral body wall defects have their origins during the fourth week of development. Omphalocele is a separate entity whose etiology is known. This defect is attributed to a failure of gut loops to return to the body cavity after their normal physiological herniation into the umbilical cord from the 6th to 10th week of development. Thus, the origin of this defect is completely different from that of the ventral body wall malformations. Copyright 2010 Elsevier Inc. All rights reserved.
Review of genetic factors in intestinal malrotation
Pediatr Surg Int. 2010 Aug;26(8):769-81. Epub 2010 Jun 13.
Martin V, Shaw-Smith C. Source Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal dominant, autosomal recessive, X-linked and chromosomal forms of the disorder are represented. Most occur in syndromic form, that is to say, in association with other malformations. In many instances, recognition of a specific syndrome is possible, one of several examples discussed being the recently described association of intestinal malrotation with alveolar capillary dysplasia, due to mutations in the forkhead box transcription factor FOXF1. New advances in sequencing technology mean that the identification of the genes mutated in these disorders is more accessible than ever, and paediatric surgeons are encouraged to refer to their colleagues in clinical genetics where a genetic aetiology seems likely.
PMID: 20549505 http://www.ncbi.nlm.nih.gov/pubmed/20549505
This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
Management of jejunoileal atresias: an experience at eastern Nepal
BMC Surg. 2010 Nov 26;10:35.
Shakya VC, Agrawal CS, Shrestha P, Poudel P, Khaniya S, Adhikary S. Source Department of Surgery, B, P, Koirala Institute of Health Sciences, Dharan, Nepal. firstname.lastname@example.org
BACKGROUND: Intestinal atresia is a common cause of neonatal intestinal obstruction, and management of this disease in limited setup of a developing country is very difficult.
METHODS: This study is a retrospective study of patients with jejunoileal atresias and their postoperative outcome in a teaching hospital in eastern Nepal over a 5-year period.
RESULTS: There were 28 children (19 boys and 9 girls). 11 children (39.28%) had jejunal atresia and 17 (60.71%) had ileal atresia. Eight (28.5%) patients died, 6 were jejunal atresia (54.5%) and 2 were ileal atresia (11.7%). The most common cause of death was sepsis which occurred in 7 out of 8 cases (87.5%). The risk factors for mortality identified were leucopenia, neutropenia, delay in surgery, location of atresia and type of atresia. Jejunal atresia tended to have a higher mortality than ileal atresia, and severe types of atresia (type IIIb and IV) were more often associated with mortality than other types of atresia. The significant differences between jejunal and ileal atresia were the increased duration between presentation and surgery, longer postoperative and total hospital stay, presence of more severe atresias and an increased risk of mortality in case of jejunal atresias.
CONCLUSION: The prognosis for this disease have definitely changed in the last few decades in developed countries but in our environment, problems like late presentation and diagnosis, lack of availability of good neonatal intensive care units and parenteral nutritional support still prevail.
PMID: 21108847 http://www.ncbi.nlm.nih.gov/pubmed/21108847
Anomalous opening of the common bile duct into the duodenal bulb: endoscopic treatment
BMC Gastroenterol. 2007 Jul 5;7:26.
Disibeyaz S, Parlak E, Cicek B, Cengiz C, Kuran SO, Oguz D, Güzel H, Sahin B. Source Department of Gastroenterology, Turkiye Yüksek Ihtisas Hospital, Sihhiye, Ankara, Turkey. email@example.com Abstract BACKGROUND: Anomalous biliary opening especially the presence of the ampulla of Vater in the duodenal bulb is a very rare phenomenon. We report clinical implications, laboratory and ERCP findings and also therapeutic approaches in 53 cases.
METHODS: The data were collected from the records of 12.158 ERCP. The diagnosis was established as an anomalous opening of the common bile duct (CBD) into the duodenal bulb when there is an orifice observed in the bulb with the absence of a papillary structure at its normal localization and when the CBD is visualized by cholangiography through this orifice without evidence of any other opening.
RESULTS: A total of 53 cases were recruited. There was an obvious male preponderance (M/F: 49/4). Demographic data and ERCP findings were available for all, but clinical characteristics and laboratory findings could be obtained from 39 patients with full records. Thirty-seven of 39 cases had abdominal pain (95%) and 23 of them (59%) had cholangitis as well. Elevated AP and GGT were found in 97.4% (52/53). History of cholecystectomy was present in 64% of the cases, recurrent cholangitis in 26% and duodenal ulcer in 45%. Normal papilla was not observed in any of the patients and a cleft-like opening was evident instead. The CBD was hook shaped at the distal part that opens to the duodenal bulb. Pancreatic duct (PD) was opening separately into the bulb in all the cases when it was possible to visualize. Dilated CBD in ERCP was evident in 94% and the CBD stone was demonstrated in 51%. PD was dilated in four of 12 (33%) cases. None of them has a history of pancreatitis. Endoscopically, Papillary Balloon Dilatation instead of Sphincterotomy carried out in 19 of 27 patients (70%) with choledocholithiazis. Remaining eight patients had undergone surgery (30%). Clinical symptoms were resolved with medical treatment in 16(32%) patients with dilated CBD but no stone. Perforation and bleeding were occurred only in two patients, which stones extracted with sphincterotomy (each complication in 1 patient).
CONCLUSION: The opening of the CBD into the duodenal bulb is a rare event that may be associated with biliary and gastric/duodenal diseases. To date, surgical treatment has been preferred. In our experience, sphincterotomy has a high risk since it may lead to bleeding and perforation by virtue of the fact that a true papillary structure is absent. However, we performed balloon dilatation of the orifice successfully without any serious complication and suggest this as a safe therapeutic modality.
PMID: 17610747 http://www.ncbi.nlm.nih.gov/pubmed/17610747
Classification of non-syndromic anorectal malformations (ARM)
|Imperforated anus without fistula|
|Complex and unusual defects|
|Cloaca with short common channel (< 3 cm)|
|Cloaca with long common channel (> 3 cm)|
|Imperforated anus without fistula|
|Complex and unusual defects
||Cloacal extrophy, covered cloacal extra|
|Associated to presacral mass|
Levitt and Peña Orphanet Journal of Rare Diseases 2007 2:33 doi:10.1186/1750-1172-2-33
Duodenal stenosis, a new finding on congenital rubella syndrome: case description and literature review
J Infect. 2006 Nov;53(5):e207-10. Epub 2006 Mar 20.
Diamanti A, Pietrobattista A, Bevivino E, De Angelis P, Calce A, Dall'Oglio L, Gambarara M. Source Children's Hospital, Gastroenterology and Nutrition Unit, Piazza S. Onofrio 4, Rome, Italy. firstname.lastname@example.org
Abstract Congenital rubella syndrome (CRS) continues to represent a public healthcare problem although an effective vaccination program. Gastrointestinal involvement is rather infrequent and the association of CRS with duodenal stenosis has been never reported. In this study a case of CRS with duodenal diaphragm is reported and the gastrointestinal diseases described in association with CRS are reviewed. A 10-month-old child affected by CRS with congenital hearth disease, perceptive deafness and microcephaly, was admitted because of vomiting and failure to thrive. An upper endoscopy demonstrated dilated proximal duodenum and a perforated diaphragm in the second segment of the duodenum. Endoscopic membranectomy was therefore performed. Two months later the patient was submitted to a further endoscopic evaluation that showed a partial diaphragm persistence and a second excision was performed. Follow-up one year after the first treatment showed good clinical conditions, reasonable physical growth and disappearance of vomiting. In conclusion we report the first case of CRS in association with duodenal stenosis. Duodenal stenosis in the absence of other intestinal localizations may be due to rubella capacity of infecting only small numbers of fetal cells but we cannot exclude that the duodenal stenosis in our patient be only a casual association.
PMID: 16546260 http://www.ncbi.nlm.nih.gov/pubmed/16546260
Cassart M, Massez A, Lingier P, Absil AS, Donner C, Avni F. Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation. Pediatr Radiol. 2006 Feb 8;:1-3
Strouse PJ. Animal models of implantation. Reproduction. 2004 Dec;128(6):679-95. Disorders of intestinal rotation and fixation ("malrotation"). Pediatr Radiol. 2004 Nov;34(11):837-51.
Occlusion and subsequent re-canalization in early duodenal development of human embryos: integrated organogenesis and histogenesis through a possible epithelial-mesenchymal interaction
Anat Embryol (Berl). 2002 Jan;205(1):53-65.
Matsumoto A, Hashimoto K, Yoshioka T, Otani H. Source Departments of Anatomy and Surgery, Shimane Medical University, 89-1 Enya-cho, Izumo, Shimane 693-8501, Japan.
Histogenesis of the duodenum, especially changes in the epithelium in relation to temporal occlusion and re-canalization of the lumen, was investigated by light microscopy together with morphometric analysis, as well as by scanning and transmission electron microscopy of 133 externally normal human embryos ranging from Carnegie stage 12 to 23. A series of morphogenetic events passed the duodenum in a cranio-caudal (proximo-distal) wave like fashion during the period examined. They included: (1) a decrease in the caliber and area of the lumen, (2) 'occlusion' of the lumen, (3) vacuole formation, (4) 're-canalization' and villi formation. The only exemption to this rule was that, in the upper part of the duodenum, the lumen was not obliterated in the embryos examined. Morphometric analyses revealed that both the area of the epithelium and the number of epithelial cells decreased during the 'occlusion' phase. This result suggests that, unlike the classical view, epithelial cell proliferation does not play an important role in occluding the lumen, but the predominant morphogenetic event during this phase is convergence of the epithelial cells to elongate the duodenum. Apoptosis, contrary to some classical views, decreased during the 're-canalization' phase, and it appeared to be involved in the formation of the small lumens in the epithelial 'plug' and in villi formation, but not in enlarging the secondary lumens. The secondary small lumens in the occluded lumen were frequently formed near the border between the central 'plug' and peripheral basal cells on the basement membrane. This and other findings of concentric differentiation in both the epithelial and mesenchymal layers suggested a possible control mechanism by the epithelium-mesenchymal interaction on human duodenal morphogenesis and histogenesis. The present electron microscopic observations also provided details on the mechanisms involved in the enlargement of the secondary lumen and differentiation of villi. The implications of these findings to duodenal anomalies are also discussed.
Intestinal atresia and stenosis: a 25-year experience with 277 cases
Arch Surg. 1998 May;133(5):490-6; discussion 496-7.
Dalla Vecchia LK, Grosfeld JL, West KW, Rescorla FJ, Scherer LR, Engum SA. Source Department of Pediatric Surgery, James Whitcomb Riley Hospital for Children, Indiana University Medical Center, Indianapolis 46202, USA. Abstract OBJECTIVE: To evaluate the causes, clinical presentation, diagnosis, operative management, postoperative care, and outcome in infants with intestinal atresia.
DESIGN: Retrospective case series.
SETTING: Pediatric tertiary care teaching hospital.
PATIENTS: A population-based sample of 277 neonates with intestinal atresia and stenosis treated from July 1, 1972, through April 30, 1997. The level of obstruction was duodenal in 138 infants, jejunoileal in 128, and colonic in 21. Of the 277 neonates, 10 had obstruction in more than 1 site. Duodenal atresia was associated with prematurity (46%), maternal polyhydramnios (33%), Down syndrome (24%), annular pancreas (33%), and malrotation (28%). Jejunoileal atresia was associated with intrauterine volvulus, (27%), gastroschisis (16%), and meconium ileus (11.7%).
INTERVENTIONS: Patients with duodenal obstruction were treated by duodenoduodenostomy in 119 (86%), of 138 patients duodenotomy with web excision in 9 (7%), and duodenojejunostomy in 7 (5%) A duodenostomy tube was placed in 3 critically ill neonates. Patients with jejunoileal atresia were treated with resection in 97 (76%) of 128 patients (anastomosis, 45 [46%]; tapering enteroplasty, 23 [24%]; or temporary ostomy, 29 [30%]), ostomy alone in 25 (20%), web excision in 5 (4%), and the Bianchi procedure in 1 (0.8%). Patients with colon atresia were managed with initial ostomy and delayed anastomosis in 18 (86%) of 21 patients and resection with primary anastomosis in 3 (14%). Short-bowel syndrome was noted in 32 neonates.
MAIN OUTCOME MEASURES: Morbidity and early and late mortality.
RESULTS: Operative mortality for neonates with duodenal atresia was 4%, with jejunoileal atresia, 0.8%, and with colonic atresia, 0%. The long-term survival rate for children with duodenal atresia was 86%; with jejunoileal atresia, 84%; and with colon atresia, 100%. The Bianchi procedure (1 patient, 0.8%) and growth hormone, glutamine, and modified diet (4 patients, 1%) reduced total parenteral nutrition dependence.
CONCLUSIONS: Cardiac anomalies (with duodenal atresia) and ultrashort-bowel syndrome (<40 cm) requiring long-term total parenteral nutrition, which can be complicated by liver disease (with jejunoileal atresia), are the major causes of morbidity and mortality in these patients. Use of growth factors to enhance adaptation and advances in small bowel transplantation may improve long-term outcomes.
Duodenal atresia was associated with prematurity (46%), maternal polyhydramnios (33%), Down syndrome (24%), annular pancreas (33%), and malrotation (28%).
Jejunoileal atresia was associated with intrauterine volvulus, (27%), gastroschisis (16%), and meconium ileus (11.7%).
Classification of jejunoileal atresia (Gray and Skandalakis)
type I atresia - mucosal web
type II atresia - fibrous cord
type III atresia - complete separation type IIIa (mesenteric gap defect), type IIIb ("apple peel")
type IV atresia - multiple atresias
Gray SW, Skandalakis JE. Embryology for Surgeons. Philadelphia, Pa: WB Saunders Co; 1972:147-148. Modified
Martin LW, Zerella JT. Jejunoileal atresia: a proposed classification. J Pediatr Surg. 1976;11:399-403. http://www.ncbi.nlm.nih.gov/pubmed/957064
Grosfeld JL, Ballantine TVN, Shoemaker R. Operative management of intestinal atresia and stenosis based on pathologic findings. J Pediatr Surg. 1979;14:368-375. http://www.ncbi.nlm.nih.gov/pubmed/480102
The 2 major theories regarding the etiology of intestinal atresia are Tandler's concept (Tandler J. Zur Entwicklungsgeschichte des Menschlichen Duodenum in Fruhen Embryonalstadien. Morphol Jahrb. 1900;29:187-216) of a lack of revacuolization of the solid cord stage of intestinal development and the classic study by Louw and Barnard (Louw JH, Barnard CN. Congenital intestinal atresia: observations on its origin. Lancet. 1955;2:1065-1067) suggesting that a late intrauterine mesenteric vascular accident is the cause of most jejunoileal and colonic atresias.
duodenal atresia revacuolization is the probable cause for most cases
jejunoileal atresias occur as a result of intestinal volvulus, intussusception, internal hernia, or strangulation in a tight gastroschisis or omphalocele defect.
PMID: 9605910 http://www.ncbi.nlm.nih.gov/pubmed/9605910
Duplications of the alimentary tract. Clinical characteristics, preferred treatment, and associated malformations
Ann Surg. 1988 Aug;208(2):184-9.
Ildstad ST, Tollerud DJ, Weiss RG, Ryan DP, McGowan MA, Martin LW. Source Department of Pediatric Surgery, Children's Hospital Medical Center, Cincinnati, OH 45229. Abstract Duplications of the alimentary tract are unusual congenital anomalies that frequently present a diagnostic as well as therapeutic challenge to the surgeon. Because these lesions occur so infrequently, they are often not suspected until encountered intraoperatively. Due to the complicated anatomy and common blood supply shared between the duplication and associated native bowel, appropriate management requires a familiarity with the anatomy and clinical characteristics of this entity. To better define the range of patient characteristics, clinical presentation, and preferred therapy, 20 enteric duplications were reviewed in 17 patients treated at the Children's Hospital Medical Center from 1956 to 1986. Ages of patients ranged from 1 day to 11 years; 60% were less than 2 years of age at initial presentation. Seven duplications in six patients involved alimentary tract structures of foregut derivation (esophagus, stomach, and Parts I and II of duodenum), with a predominance of girls (4 of 6). Most of these patients (67%) presented with moderate to severe acute respiratory distress and a mass present on chest radiograph. In 67% of the patients, the correct diagnosis was established before operation. None required emergency operative intervention. By contrast, 13 duplications in 11 patients were of midgut or hindgut derivation (Parts III and IV of the duodenum, jejunum, ileum, and colon). In this group of patients, 62% of the duplications involved the cecum, 23% involved the ileum, and 16%, the jejunum. Seventy-eight per cent of the patients were boys. The most common symptoms were nausea and vomiting, and the most common sign was a palpable abdominal mass. Emergency operative intervention was required of eight of 11 patients with duplications involving the small bowel and colon. Three patients presented with an intussusception, four with signs and symptoms consistent with acute appendicitis, one with a small bowel obstruction, and two with gastrointestinal hemorrhage due to the presence of ectopic gastric mucosa within the duplication. It was found that two important points must be considered in regard to the management of enteric duplications: (1) the common blood supply shared between the duplication and native bowel must be carefully protected to avoid undue sacrifice of normal bowel, and (2) the presence of heterotopic gastric mucosa in 35% of patients negates internal drainage.(ABSTRACT TRUNCATED AT 400 WORDS)
PMID: 3401062 http://www.ncbi.nlm.nih.gov/pubmed/3401062
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1493602/figure/F5/ small intestine duplication image
Congenital defects of the abdominal wall
Surg Gynecol Obstet. 1981 Jun;152(6):805-8.
Klein MD, Hertzler JH. Abstract We reviewed a 22 year experience with 138 newborn infants with congenital evisceration through defects of the abdominal wall. Omphalocele is a large defect which always has a sac, in which the rectus muscles insert laterally on the costal margins and which usually has associated anomalies. Cord hernia is a small defect which always has a sac, in which the rectus muscles insert at the xiphoid and which commonly has associated anomalies. Gastroschisis is a small defect which never has a sac, in which the rectus muscles insert at the xiphoid and has few associated anomalies, though prematurity is frequent. We hypothesize that gastroschisis develops because the umbilical coelom fails to form, which forces the elongating midgut to rupture into the amniotic cavity. This differs from the embryogenesis of omphalocele, which is failure of closure of a primary body fold, and from that of cord hernia, which is failure of the midgut to return from the umbilical coelom. The number of infants in this series who survived after surgical repair of an omphalocele was 31 of 51 patients; of a cord hernia, 22 of 28 patients, and of gastroschisis, 40 of 59 patients. Factors contributing to mortality were associated anomalies, low birthweight and surgical closure under excessive tension. PMID: 6454267 [Indexed for MEDLINE]
- Michaud L, Coutenier F, Podevin G, Bonnard A, Becmeur F, Khen-Dunlop N, Auber F, Maurel A, Gelas T, Dassonville M, Borderon C, Dabadie A, Weil D, Piolat C, Breton A, Djeddi D, Morali A, Bastiani F, Lamireau T & Gottrand F. (2013). Characteristics and management of congenital esophageal stenosis: findings from a multicenter study. Orphanet J Rare Dis , 8, 186. PMID: 24289834 DOI.