Hirschsprung's Disease: A Congenital Disorder of the Colon

The Danish doctor, Harald Hirschsprung was the first doctor to document and describe this congenital disorder of the colon in 1866. He discovered this illness when he conducted autopsies on two infants who had died due to engorged bellies. Dr. Hirshsprung presented the congenital disorder of the colon as a disease that causes dilation and hypertrophy (enlarged) of the colon. This disease, that causes bowel obstructions in infants, was named after this great physician; it is also called Congenital Aganglionic Megacolon.

Hirschsprung's disease in infants is characterized by the absence of ganglion cells (a type of nerve cells) in parts of the colon, which causes chronic constipation. Hirschsprung's disease in infants begins at the anal opening and often spreads upward to involve the entire colon; it is for this reason that the disease is also named aganglionic megacolon. Aganglionic megacolon means an enlarged colon without ganglion cells.

Symptoms of Hirschsprung's disease

Hirschsprung's disease is more prominent in male infants; about 75 percent of the cases have no ganglion cells in the sigmoid colon and rectum. Approximately 8 percent have no ganglion cells in the entire colon. Because this disorder is due to a genetic anomaly, the disease starts from birth. The first sign of Hirschsprung's disease in infants can be detected when there is delayed passage of meconium (first bowel excretion of the infant). Other features associated with congenital aganglionic megacolon include abdominal distention, crying with pain during excretion due to constipation; these signs and symptoms should be immediately brought to the attention of the attending physician for further diagnosis. There may also be persistent vomiting associated with the other symptoms.

Diagnosis and treatment for Hirschsprung's disease

The doctor will need to run tests to diagnose an infant with this disorder. The tests include a barium enema X-ray to visualize the condition of the colon. A rectal biopsy will confirm the absence of ganglion cells in the area. Because there will not be ganglion nerve cells in the affected area, it can result in overstimulation of ganglion nerves in another area of the colon, causing it to contract. The end result is one part of the colon is narrowed down from over excitement of the nerves, and the other part of the colon is enlarged.

Treatment for this condition involves surgical removal of the abnormality of the colon. The surgery involves 2 stages. The first stage will be to remove the affected part of the colon and then create a stoma (opening) through abdomen where the upper part of the bowels will empty into a bag that is attached to the abdomen. Later, after the baby's gut has healed from the first surgery, the second part of the surgery will be done. The functional pats of the upper and lower bowel will be reconnected and the colostomy stoma will be closed so that the bowels can move normally.

Conclusion

The exact gene that causes Hirschsprung's disease has not been identified. Medical professionals may have many different opinions. At one time, it was believed that 2 genes had been isolated to be the causative factor for the disease, but this was discredited. As early as 2001, scientists looking at gene mapping for identifying the causative genes for Hirschsprung's disease thought they had the answer, but to date there is no conclusive data on the genetic factors.

The known procedure of surgical correction is the only effective way to treat the disease since the underlying genetic anomaly hasn't been identified. If left untreated, Hirschsprung's disease could lead to complications such as entercolitis and serious infections of the small bowel. These complications could be fatal to the infant.

Sources:

Medicine Online

Medicine Net

Harald Hirschsprung