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BMC Pediatrics
Published in: BMC Pediatrics 1/2019

Open Access 01-12-2019 | Enterostomy | Case report

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

Authors: Fereshteh Salimi Jazi, Julia M. Chandler, Chad M. Thorson, Tiffany J. Sinclair, Florette K. Hazard, John A. Kerner, Sanjeev Dutta, James C.Y. Dunn, Stephanie D. Chao

Published in: BMC Pediatrics | Issue 1/2019

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Abstract

Background

Total colonic and small bowel aganglionosis (TCSA) occurs in less than 1% of all Hirschsprung’s disease patients. Currently, the mainstay of treatment is surgery. However, in patients with TCSA, functional outcomes are often poor. A characteristic transition zone in TCSA can be difficult to identify which may complicate surgery and may often require multiple operations.

Case presentation

We present the case of a male infant who was diagnosed with biopsy-proven total colonic aganglionosis with extensive small bowel involvement as a neonate. The patient was diverted at one month of age based on leveling biopsies at 10 cm from the Ligament of Treitz. At 7 months of age, during stoma revision for a prolapsed stoma, intra-operative peristalsis was observed in nearly the entire length of the previously aganglionic bowel, and subsequent biopsies demonstrated the appearance of mature ganglion cells in a previously aganglionic segment.

Conclusions

TCSA remains a major challenge for pediatric surgeons. Our case introduces new controversy to our understanding of aganglionosis. Our observations warrant further research into the possibility of post-natal ganglion maturation and encourage surgeons to consider a more conservative surgical approach.
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Metadata
Title
Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report
Authors
Fereshteh Salimi Jazi
Julia M. Chandler
Chad M. Thorson
Tiffany J. Sinclair
Florette K. Hazard
John A. Kerner
Sanjeev Dutta
James C.Y. Dunn
Stephanie D. Chao
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2019
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-019-1456-0

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