Congenital segmental dilatation of the intestine: an in-depth review

Abstract

Objective

Congenital segmental dilatation of the intestine (CSDI) is a rare gastrointestinal condition. We conducted a scoping review through MEDLINE and Google Scholar, collecting data from 1959 through August 2020 to better understand this peculiar disease.

Methods

The clinical and pathological features of 150 patients were reviewed.

Results

The mean age was 25.9 days, and 61.3% of patients were male. An antenatal diagnosis was made in 15.3% of patients. Predominant symptoms included abdominal distension (83.9%) and vomiting (61.3%). Pallor and anemia were associated with ileal CSDI. The most common sites of the lesion were the ileum (56%) and colon (27.3%). Associated anomalies occurred in 57.3% of the patients, of which the most common included other abnormalities of the digestive system (69.8%), abdominal wall (19.8%), and cardiovascular system (11.6%). Resection and anastomosis was performed in 83.3% of patients. Postoperative complications occurred in 10%. Normal ganglion cells were commonly found (97.3%), while muscle layer hypertrophy and atrophy were found in 14.7% and 13.3% of the patients, respectively. Abnormal interstitial cells of Cajal were identified in four patients. Death occurred in 12.7% of patients. Demise was significantly associated with the duodenal location of CSDI (Mantel-Cox test, p = 0.002).

Conclusion

CSDI remains poorly understood, and mortality is associated chiefly with its duodenal location. Further research is needed, and biorepositories should be promptly set up to study this disease in the future better.

HIGHLIGHTS

• What is currently known about the topic? CSDI is a sporadic condition, which can represent a challenge for neonatologists.

• What new information is contained in this article? Pallor and anemia are found explicitly in ileal CSD, and the duodenal location of CSDI is associated with the highest mortality rate.

Keywords:

• Congenital segmental dilatation
• intestine
• review
• scoping review

Acknowledgments

The author FTAZ is grateful to to Else-Kröner-Fresenius-Stiftung, Holger-Poehlmann-Stiftung and the NGO Förderverein Uni Kinshasa e.V., fUNIKIN through the excellence scholarship program “Bourse d’Excellence Bringmann aux Universités Congolaises, BEBUC,” which funds his specialization in pediatric surgery.

This research has also been funded by the generosity of the Children’s Hospital of Innsbruck, the Children’s Hospital of Eastern Ontario, Ottawa, Ontario, and the Stollery Children’s Hospital Foundation and supporters of the Lois Hole Hospital for Women through the Women and Children’s Health Research Institute, Edmonton, Alberta). The funders had no role in study design, data collection, analysis, publication decision, or manuscript preparation.

We are also very grateful to the statistical services of our academic centers for proofing and confirming our data and results.

Disclosure statement

The authors have no conflicts of interest relevant to this article.

Data availability statement

Data derived from public domain resources: PubMed and Scopus.

The data that support the findings of this study are available in PubMed and Scopus at the URLs specific to the reference numbers listed in the bibliography.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.