Introduction: Extended Hirschsprung’s disease (EHD) is a rare condition leading to intestinal failure (IF). Its impact in Latin America (LATAM) is unknown. The aim of this study is to review our experience and published evidence.

Methods: Case series. Inclusion criteria: patients < 18 ys. with EHD diagnosis, confirmed by full thickness biopsies during laparotomy, between 2009-2018. Residual intestinal length (RIL): measured from ligament of Treitz to enterostomy. Medical records and patients data base review, in addition to PubMed, Cochrane, Embase, Lilacs and Medline research, using “Hirschsprung’s disease”, “intestinal failure” and “total intestinal aganglionosis” as keywords, 1993-2018.

Results: N=5. Median age 42.2 m (r:4-108). Mean RIL: 54.6 cm (r:30-80). It took 3.2 surgical procedures (r:2-4) to perform a functional enterostomy. The distal aganglionic bowel was preserved in all cases. 5/5 with IF and mean parenteral nutrition (PN) dependance time of 46 months (r:10-114) . All received enteral nutrition by oral feeds and gastroclisis in 2 cases. 3 patients were listed for intestinal transplantation (ITx), 2 have already received an ITx. Follow up: 2.16 years (r: 0.75-4.25). 80% (4/5) overall survival on home PN, 1 death 9 months after ITx due to PTLD (off PN).

Literature review: 127 articles. No publications from LATAM. 120 excluded: 6 duplications, 114 do not fulfill inclusion criteria. 7 remaining articles, N 47: 0.49 mo.; mean 4.9 years follow up (r:2.67-7.3); 3.57 procedures (r:1.4-5.75) until reaching an accurate diagnosis; RIL: 44.7 cm (32.2-60); 7 had aganglionic bowel resection; 66% survival; causes of death: 3 after ITx, 1 listed for ITx, 11 due to PN complications. 18/47 patients received an ITx.

Discussion: EHD is an uncommon disorder leading to IF, and its prevalence in our continent is unknown. Our outcomes are similar to those published elsewhere. Home PN provides acceptable medium-term survival, although most patients will need an ITx in the long term.