Skip segment Hirschsprung Disease: Unicentric experience with four cases and systematic literature review

Skip lesion aganglionosis is characterized by intestinal aganglionosis interrupted by portions of normally ganglionated bowel that is located in between segments of aganglionosis. Even though this is a well-known entity, only scattered cases have been reported so far. The aim of this manuscript is to present our series of patients and perform a systematic literature review, to offer a critical overview of possible management.

We hereby present a case series of 4 patients diagnosed during the last five years in our Centre in accordance to SCARE guidelines. A systematic review according to PRISMA guidelines was performed to better address this extremely rare surgical dilemma.

Our case-series included only patients with ultralong Hirschsprung, being 3 Total Colonic Aganglionosis and 1 Extended Aganglionosis. Detailed description of each case is reported. Systematic Literature Review included ended up with a total of 50 patients mostly suffering from ultralong Hirschsprung and whose diagnostic pathway proved to be heterogenous with diagnostic delays and misdiagnoses.

Based on this case series and on literature data, skip lesion aganglionosis should be referred to highly experienced referral centers and deserve a dedicated diagnostic and therapeutic management. The motility of ganglionated bowel distal to skip lesions proved to be impaired in our experience thus suggesting avoiding the use of this non-functioning bowel to restore continuity. The Authors propose a detailed algorithm to reduce misdiagnoses and avoid dangerous delays.