Hirschprung disease

Hirschsprung disease is a developmental disorder of the enteric nervous system and is characterized by an absence of ganglion cells in the distal colon resulting in a functional obstruction. Congenital aganglionosis of the distal bowel defines Hirschsprung disease. Aganglionosis begins with the anus, which is always involved, and continues proximally for a variable distance. Both the myenteric (Auerbach) and submucosal (Meissner) plexus are absent, resulting in reduced bowel peristalsis and function. The precise mechanism underlying the development of Hirschsprung disease is unknown.

Most cases are now diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. This is especially so if the infant is neither premature nor born to a diabetic mother. The diagnosis should be considered until future development shows sustained normal bowel function. Infants affected with Hirschsprung disease may present with abdominal distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A family history of a similar condition is present in about 30% of cases. Rectal biopsy is obtained to confirm the diagnosis. Babies require surgical intervention when the diagnosis is made. A primary pull through procedure is possible in some cases. Otherwise, a colostomy is made and definitive repair is postponed until the infant is of adequate size and stability.

Early diagnosis and prompt surgical care are essential to prevent serious complications as enterocolitis which accounts for significant morbidity and mortality in patients with Hirschsprung disease.

Keywords : Hirschprung disease, aganglionosis, Auerbach and Meissner plexus