Colonic Atresia: Association with Other Anomalies

El-Asmar, Khaled M.; Abdel-Latif, Mohammed; El-Kassaby, Abdel Wahab; Soliman, Mohamed H.; El-Behery, Mosad M

doi:10.21699/jns.v5i4.422

Cited by 45 publications

(28 citation statements)

References 26 publications

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“…CA may be an isolated anomaly or associated with other congenital anomalies association with malrotation, anorectal malformation, gastroschisis, HD, limb malformation, and choledochal cyst has been reported. [ 1 2 3 4 5 14 15 16 19 ] In our study, we found association with malrotation in 3 cases, HD in 2 cases, unilateral cleft lip in 1, and cardiac anomaly 2 patient and Meckels diverticulum in 1 patient. Presence of anomalies alters overall mortality.…”

Section: Discussionsupporting

confidence: 59%

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Demographic study and management of colonic atresia: Single-center experience with review of literature

Saha

Ghosh

et al. 2018

J Indian Assoc Pediatr Surg

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Context and Aim:The aim of this study is to highlight the rarity of this disorder and its associated anomalies and our objective was to review our experience in the management of colonic atresia (CA) with respect to staged surgery versus one-step procedure for a better outcome of the disease.Settings and Design:A randomized, controlled, single-center study conducted over a period of 4 years from October 2013 to 2017.Subjects and Methods:Nine cases were operated for CA of which three underwent primary anastomosis and six underwent initial colostomy followed by definitive surgery. Age, sex, body weight, clinical presentation, type of atresia, site, time interval of operation, associated anomalies, initial procedure, postoperative complications, final procedure, biopsy, hospital stay, and outcome were noted.Statistical Analysis Used:Microsoft Excel was used for statistical analysis.Results:Out of 9 patients, 6 were males and 3 were females, 7 patients survived and 2 patients died (mortality 22.2%), of which one patient with primary anastomosis had leak and sepsis and one patient with primary anastomosis had associated Hirschsprung's disease (HD). Mean time gap for operation was 12.8 h and mean hospital stay was 3.5 days for initial colostomy and 21 days for primary anastomosis. Wound dehiscence occurred in 4 patients. Malrotation was found in 3 patients, HD in 2 patients, cardiac anomaly in 2, Meckel's diverticulum in 1, and cleft lip in 1 patient. Type IIIa atresia was found in in 6 patients, Type I in 2, and Type II in 1 patient. The most common site was transverse colon (n = 5).Conclusion:Diagnosis and management of CA is a challenge. Early presentation and diagnosis should be prompt. Staged procedure with initial colostomy followed by definitive procedure is the preferred choice. Associated anomaly HD must be ruled out.

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Section: Discussionsupporting

confidence: 59%

“…Primary colo-colic anastomosis for atresia in the right colon and diverting colostomy for the left colon has been suggested by many studies earlier. [ 1 3 4 5 16 17 18 19 20 21 22 23 24 ] Dalla Vecchia et al . reported null mortality in 21 CA and in 3 out of 21 with primary one-stage anastomosis approach to CA.…”

Section: Discussionmentioning

confidence: 99%

Demographic study and management of colonic atresia: Single-center experience with review of literature

Saha

Ghosh

et al. 2018

J Indian Assoc Pediatr Surg

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“…The most common of the combined malformation is gastroschisis. Intestinal malrotation is less common as the combined malformation [14,15].…”

Section: Discussionmentioning

confidence: 99%

Congenital multiple colonic atresias with intestinal malrotation: a case report

et al. 2020

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Background: Congenital intestinal atresia develops in 1 in 1500 to 20,000 births. Colonic atresia, which accounts for 1.8-15% of intestinal atresia cases, is accompanied by other gastrointestinal atresias such as small intestinal atresia, gastroschisis, imperforate anus, and intestinal malformation in 47-80%. Although a report shows that patients with multiple colonic atresias are 8.9% of those with colonic atresia. Case presentation: A male infant did not have the first bowel movement within 36 h of birth and had abdominal distention/vomiting. Radiography showed significant dilation of the intestinal tract. A contrast enema examination at 3 days of age showed a microcolon and disruption in the descending colon. We performed an emergency decompressive loop enterostomy in the distended segment. At the age of 7 months, imaging from the stoma showed disruption of the contrast medium in the intestinal tract at the right lower abdomen, and the continuity of the intestinal tract was not clarified. Intestinal malrotation was found during the second surgery, and the enterostomy was located in the ileum proximal to Bauhin's valve. Continuity of the intestinal serosal surface was maintained. However, multiple membranous obstructions (three atresias and one stenosis) were observed in the distal segment of the bowel, which was penetrated by intraluminal advancement of a urethral catheter. Therefore, he was diagnosed with multiple colonic atresias. The intestinal tract was longitudinally incised, and membranectomy and mucosal/lateral suture were performed. Conclusions: It is important for neonates with intestinal atresia to evaluate and prepare for distal patency of the colon before radical anastomosis. In addition, anomalies associated with colon atresia should also be assessed.

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“…The prevalence of colonic atresia is estimated at 1 in 20,000 (Mirza, Iqbal, & Ijaz, ) to 1 in 66,000 live births (Davenport, Bianchi, Doig, & Gough, ). Approximately one‐half of children with colonic atresia have additional defects (El‐Asmar, Abdel‐Latif, El‐Kassaby, Soliman, & El‐Behery, ; Etensel et al, ). If isolated colonic atresia is identified and treated early, the prognosis is good with an overall mortality of <26%; however, mortality increases considerably if there is a delay in treatment beyond 3 days (Etensel et al, ).…”

Section: Methods Optimizationmentioning

confidence: 99%

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Jenkins

Almli

Pangilinan

et al. 2019

Birth Defects Research

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Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case-control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a birth defect or a liveborn child without a birth defect between 1997 and 2011.They were invited to complete a telephone interview to collect pregnancy exposure data and were mailed buccal cell collection kits to collect specimens from themselves, their child (if living), and their child's father. Over 23,000 families representing more than 30 major structural birth defects provided DNA specimens. Methods: To evaluate their utility for exome sequencing (ES), specimens from 20 children with colonic atresia were studied. Evaluations were conducted on specimens collected using cytobrushes stored and transported in open versus closed packaging, on native genomic DNA (gDNA) versus whole genome amplified (WGA) products and on a library preparation protocol adapted to low amounts of DNA. Results: The DNA extracted from brushes in open packaging yielded higher quality sequence data than DNA from brushes in closed packaging. Quality metrics of sequenced gDNA were consistently higher than metrics from corresponding WGA products and were consistently high when using a low input protocol.Conclusions: This proof-of-principle study established conditions under which ES can be applied to NBDPS specimens. Successful sequencing of exomes from well-characterized NBDPS families indicated that this unique collection can be used to investigate the roles of genetic variation and gene-environment interaction effects in birth defect etiologies, providing a valuable resource for birth defect researchers. K E Y W O R D Sbirth defects, gene-environment interaction, genetics, intestinal atresia, sequence analysis

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Colonic Atresia: Association with Other Anomalies

Abstract: Background: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies.

Cited by 45 publications

References 26 publications

Demographic study and management of colonic atresia: Single-center experience with review of literature

Demographic study and management of colonic atresia: Single-center experience with review of literature

Congenital multiple colonic atresias with intestinal malrotation: a case report

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

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