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

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.

journal_name

BMC Pediatr

journal_title

BMC pediatrics

authors

Salimi Jazi F,Chandler JM,Thorson CM,Sinclair TJ,Hazard FK,Kerner JA,Dutta S,Dunn JCY,Chao SD

doi

10.1186/s12887-019-1456-0

subject

Has Abstract

pub_date

2019-04-05 00:00:00

pages

93

issue

1

issn

1471-2431

pii

10.1186/s12887-019-1456-0

journal_volume

19

pub_type

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