Abstract
ObjectiveTo describe the case of an infant with Hirschsprung's disease presenting as total colonic aganglionosis, which, after surgical resection of the aganglionic segment persisted with irreversible functional intestinal obstruction; discuss the difficulties in managing this form of congenital aganglionosis and discuss a plausible pathogenetic mechanism for this case. Case descriptionThe diagnosis of Hirschsprung's disease presenting as total colonic aganglionosis was established in a two-month-old infant, after an episode of enterocolitis, hypovolemic shock and severe malnutrition. After colonic resection, the patient did not recover intestinal motor function that would allow enteral feeding. Postoperative examination of remnant ileum showed the presence of ganglionic plexus and a reduced number of interstitial cells of Cajal in the proximal bowel segments. At 12 months, the patient remains dependent on total parenteral nutrition. CommentsHirschsprung's disease presenting as total colonic aganglionosis has clinical and surgical characteristics that differentiate it from the classic forms, complicating the diagnosis and the clinical and surgical management. The postoperative course may be associated with permanent morbidity due to intestinal dysmotility. The numerical reduction or alteration of neural connections in the interstitial cells of Cajal may represent a possible physiopathological basis for the condition.
Highlights
Hirschsprung’s disease (HD) is the most prevalent cause of functional bowel obstruction in infants, with an incidence of 1:5000 live births.[1]
The anatomical location of the transition between the distal aganglionic segment and the proximal ganglionic segment allows for the classification of HD as follows: classic --when the aganglionic segment extends to the proximal sigmoid; with long segment --- when aganglionosis reaches the splenic flexure or the transverse colon; or total colonic aganglionosis (HDTCA) --- when the aganglionic segment extends from the anus up to at most 50cm proximal to the ileocecal valve
The classic form of HD is observed in 7---88.8% of cases; the long form, in 3.9---23.7%; and HDTCA, in up to 12.6% of patients.[5]
Summary
Hirschsprung’s disease (HD) is the most prevalent cause of functional bowel obstruction in infants, with an incidence of 1:5000 live births.[1].
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