title: Total colonic aganglionosis with skip lesions: report of a rare case and management.
abstract: We present an unusual case of total colonic aganglionosis with well-documented skip lesions and discuss our staged approach for diagnosis and surgical management. To date, there have been few reported cases of total colonic aganglionosis with skip areas. This type of presentation challenges the accepted theory regarding the etiology of colonic aganglionosis. Although skip lesions in Hirschsprung disease are extremely rare, their existence must be appreciated especially when a patient's clinical and pathologic findings do not support classic Hirschsprung disease. If not considered, additional areas of aganglionosis can be missed at initial presentation, leading to a delay in definitive treatment. This case illustrates how careful mapping of bowel via multiple biopsies can identify and thereby preserve intervening segments of bowel with normal ganglions cells to yield the maximal amount of bowel possible.
authors.affiliation: Rady Children's Hospital, San Diego, CA 92123, USA. scastle@chla.usc.edu
authors.forename: Shannon
authors.initials: S
authors.lastname: Castle
authors.forename: Ahmed
authors.initials: A
authors.lastname: Suliman
authors.forename: Katayoon
authors.initials: K
authors.lastname: Shayan
authors.forename: Karen
authors.initials: K
authors.lastname: Kling
authors.forename: Stephen
authors.initials: S
authors.lastname: Bickler
authors.forename: Barry
authors.initials: B
authors.lastname: Losasso
mesh_terms: D003082:Colectomy; D003125:Colostomy; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male