Hirschsprung’s disease is a condition that involves the large intestines (colon) and interferes with the passage of normal bowel movements. It is a condition that is present at birth and results from absent nerve cells in either a portion or the entire part of the baby’s colon. Nerve cells are essential to the normal functioning of the colon as they are needed to keep food moving through the baby’s bowels. During fetal development groups of nerve cells (ganglia) form between the muscle layers along the length of the colon. In babies with Hirschsprung’s disease this process is interrupted, especially in the last segment of the colon, i.e. the rectum and sigmoid colon. As a consequence of this congenital abnormality, the newborn with Hirschsprung’s disease is unable to have normal bowel movements in the first few days of life.
Babies with Hirschsprung’s disease are likely to develop a serious infection of the intestines referred to as enterocolitis. This condition is caused by the backup of stool behind the paralyzed section of the colon lacking nerves. This immobile mass of stool is a fertile environment for bacteria to grow and as the stool mass enlarges it creates pressure on the blood vessels in the colon resulting in decreased blood flow to the tissues of the bowel. This may result in a breakdown of the bowel lining and cause the bowel to rupture and for stool to enter the peritoneal cavity. This complication is life threatening and is one of the true surgical emergencies seen in newborn infants.
Hirschsprung’s disease medical expert witness specialties include general surgery, pediatric surgery, infectious disease, pediatric infectious disease, (medical) genetics, pediatrics, critical care, and surgical critical care.