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

• Main Authors: Fereshteh Salimi Jazi (Author), Julia M. Chandler (Author), Chad M. Thorson (Author), Tiffany J. Sinclair (Author), Florette K. Hazard (Author), John A. Kerner (Author), Sanjeev Dutta (Author), James C.Y. Dunn (Author), Stephanie D. Chao (Author)
• Format: Book
• Published: BMC, 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s12887-019-1456-0; 1471-2431
• Keywords: Aganglionosis; Hirschsprung's disease; Total colonic aganglionosis; Total colonic and small bowel aganglionosis; Pediatrics; RJ1-570
• Source: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)

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.