How Doctors Diagnose Hirschsprung's Disease

Carol got scared after she had taken her four-year-old son to the pediatrician three times in a week for abdominal pain and distension. She finally insisted that the doctor admit the youngster to the hospital. The pediatric gastroenterologist who examined Matthew as an inpatient was able to diagnose Hirschsprung's disease.

Overview

Hirschsprung's disease is a congenital condition in which patients suffer painful blockages of the large intestine, or colon. Many children are diagnosed shortly after birth. However, others don't show symptoms until they're Matthew's age or older, according to MedlinePlus. Some aren't diagnosed until adulthood.

Hirschsprung's patients have a section of large intestine in which nerve cells are missing. These nerves are normally located between muscles layers in the bowel and send signals to propel food through the digestive tract. When they're absent, the bowel can't push food along its normal pathway. Around 25 percent of the intestinal blockages that occur in newborns are the result of this disorder.

The Mayo Clinic indicates that the condition has a genetic basis for at least some patients even though neither parent has it. Hirschsprung's occurs five times as often in boys than in girls. It strikes youngsters with Down syndrome 10 times more often than it does other children.

Often newborns with Hirschsprung's disease don't pass any stool within two days after birth. They're frequently fussy babies who suffer from constipation, gas, diarrhea, jaundice, poor feeding, vomiting, and/or inadequate weight gain. Older patients typically exhibit a distended abdomen and delayed growth due to problems with nutrient absorption. Infections in the large intestine are common. So are chronic constipation and anemia.

The only effective treatment for Hirschsprung's patients is surgery.

Diagnosis

Physicians use a number of techniques to diagnose Hirschsprung's disease:

Physical exam. During a physical exam, the doctor is sometimes able to feel loops of bowel in the patient's swollen abdomen. In some individuals, an exam shows a loss of muscle tone in the rectum.

X-rays. Abdominal X-rays can reveal backed-up stool in the large intestine. This shows up as less air than normal in the colon or as sections of the bowel that appear wider than they should be.

Barium enema. Medical personnel insert barium into the large intestine using an enema. The barium, a contrast agent, coats the lining of the gut so that the radiologist is able to visualize the colon and rectum. Sometimes air is added to the barium in order to provide better contrast. In some cases, doctors use diatrizoate instead of barium. The sections of the colon with missing nerve cells in patients with Hirschsprung's disease appear narrowed. X-rays the following day might show some barium still in the large intestine because the patient has been unable to expel it.

Manometry. This involves inflating a balloon inside the patient's rectum. If the anal muscle doesn't relax, the problem might be linked to Hirschsprung's. This procedure is appropriate only or older children or adults.

Biopsy. In this surgical procedure, the doctor removes a small piece of tissue from the large intestine. Examining it under a microscope should reveal the absence of nerve cells, a sign of the disorder. While this procedure requires anesthesia, use of rectal suction biopsy doesn't. With this technique, a doctor removes some cells from the mucosa of the large intestine with a suction tool so that cutting is unnecessary. However, if examination shows the presence of nerve cells, the patient will need to undergo a full-thickness surgical biopsy to diagnose or rule out Hirschsprung's disease. This type of biopsy evaluates tissue from deeper layers of the colon.

Prognosis

Individuals with this disorder typically face a long-term battle to achieve sufficient nutrition. Some youngsters require feeding tubes at various times. Children who have undergone surgery to treat the condition face a number of potential complications. Among them are enterocolitis, continuing constipation, and diarrhea from a shortened bowel.

The majority of children doctors diagnose as having Hirschsprung's disease live normal lives. Those who have a shortened colon after surgery often need to drink more fluids each day to compensate for the loss of intestinal surface.

Sources:

http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm

http://www.mayoclinic.com/health/hirschsprungs-disease/DS0082