Which of the followings statement regarding Hirschprung’s disease are true?

a. Suction rectal biopsy is virtually always diagnostic if the specimen includes submucosa

d. Ninety percent or more of patients have an excellent or good functional result following reconstructive surgery

e. The important cause of mortality in contemporary practice is enterocolitis

The incidence of Hirschprung’s disease is about 1 per 5000 live births, with no racial predilection, but with a marked maleto-female (4:1) preponderance. Most cases are sporadic, but long-segment or total colonic aganglionosis and female gender are strongly associated with familial disease. Recent data suggest an association with the RET protooncogene. The genetic basis of Hirschprung’s disease is under active investigation and it appears that several genes including those located on chromosomes 10, 13, 22 and possibly others are involved. It is neither sex linked nor dominant. There is a rare association with the MEN syndromes, particularly medullary carcinoma of the thyroid.

The accuracy of suction rectal biopsy is 100% with a correctly done biopsy that includes submucosa and experienced pediatric pathology in several large series. This requires both a search for ganglion cells and evaluation of the axons of the myenteric neurons using either conventional staining techniques or histochemical staining for acetylcholinesterase.

Definitive operations for congenital aganglionosis all depend on resection or bypass of the distal aganglionic rectum with a low rectal anastomosis to normally innervated pulled-through proximal intestine. Selection among the several described operations depends more on a surgeon’s individual training and preference rather than upon demonstrable differences in outcome. Although the endorectal pull-through is one of the widely practiced and popular procedures, it is not demonstrably superior to the procedures described by Duhamel or Swenson (see text). Eighty to 90% or more of patients have excellent or normal bowel function following reconstructive surgery for Hirschprung’s disease when evaluated after 5 years, regardless of the procedure employed.

The primary remaining cause of mortality directly attributable to Hirschprung’s disease itself is enterocolitis. When it occurs, this is typically found in infants or neonates for whom the diagnosis has been delayed. Postoperative enterocolitis does occur, but it tends to be substantially less virulent. Undiagnosed neonatal Hirschprung’s enterocolitis can lead to death in 12 to 24 hours from overwhelming sepsis.