HIRSCHSPRUNG’S DISEASE

Hirschsprung’s disease is a developmental disorder of the enteric nervous system and is characterized by absence of ganglion cells in the distal colon resulting in a functional obstruction.

Congenital megacolon characterized by lack of ganglion cell/enteric nerves plexus (Auerbach’s and Meissner’s). Due to failure of neural crest cells migration.

Presents as chronic constipation early in life. Dilated portion of the colon proximal to the aganglionic segment, resulting in a “transition zone”. Involves rectum. Usually failure to pass meconium.

Risk ↑ with Down syndrome.

Most cases of Hirschsprung disease 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. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. Once the diagnosis is confirmed, the basic treatment is to remove the poorly functioning aganglionic bowel and to create an anastomosis to the distal rectum with the healthy innervated bowel (with or without an initial diversion).