Hirschsprung’s Disease

Abstract

Hirschsprung’s disease (HD) or “congenital megacolon” is a congenital developmental disorder characterized by the absence of ganglion cells in the distal intestine with variable proximal extension. HD affects approximately 1 / 5,000 live births and is more common in males (M: F = 4: 1). According to the proximal extension is possible to indentify different forms of HD: ultrashort, short segment or classical form, long segment and total colonic aganglia. Most children with HD (50-90%) are diagnosed in the neonatal period. Typically the infant with HD is born at term and present with failure to pass meconium.When there is a clinical suspicion of HD, diagnostic investigations to be performed include: radiologic evaluation (plain radiographs, barium enema), anorectal manometry, rectal full-thickness biopsy or serum-muscle and / or rectal biopsy by suction (Rectal Suction biopsy - RSB).There are numerous surgical techniques described for the treatment of HD. The most commonly performed, and therefore considered “the major pull-through procedures”, are: Swenson rectosigmoidectomy, Duhamel retrorectal transanal pull-through, Rehbein pull-through with anterior colorectal anastomosis, Soave rectosigmoidectomy with aseptic endorectal colon pull-through.Early postoperative complication is represented by colo-anal anastomosis dehiscence (3.2%) which, if not massive, is solvable conservatively. Late postoperative complications are HAEC and colo-anal anastomosis stenosis.On rare occasions the child may require a RedoPT procedure. Indication for RedoPT in the recent review was most commonly for a retained aganglionosis/transition zone pathology (RA/TZP; 71% overall ). Other indications included stricture/obstructing Duhamel pouch (19%), excessively tight cuff (8%), twisted-PT (4%). Operative approach can vary widely and is heavily dependent on type of complication, underlying pathology, previous surgical history as well as surgeon preference as to the type of repair. Complications are quite similar after redo-PT compared to primary PT in experienced hands but stooling outcomes are significantly worse compared to those after a primaryPT. Importantly, continence is still retained in the majority of children.