Hirschsprung’s disease is a disease affecting the nerve cells (Ganglion cells) of the large intestine (It sometimes also affects the nerve cells of the small intestine). These nerve cells control the muscles that help in the movement of the intestines (peristalsis) topush thefood/waste (or stool)from the small intestines through the large intestine to be finally excreted through the anus. During development, these nerve cells are formedin the intestines in forward fashion i.e. from the mouth to the anus. In babies with Hirschsprung’s disease, these nerve cells don’t grow past a certain part of the large intestine.And so,the muscles of that part can’t move food and stool forwardand become partly or fully blocked. The waste gets collected in the intestinebehind the blockage so it begins to grow larger than normal, while the abnormal intestine which is present after the blockage remains thin. This then leads toabdominal swelling and infection.
Most babies with Hirschsprung’s disease have symptoms in the first few weeks of life. However, in some cases only a short part of the intestine may be affected, so they may present later in life. Therefore each child’s symptoms and severity varies depending on the length of the involved intestinal segment.
Symptoms in new-borns may include:
Older Children who don’t show early symptoms may have:
A numberof tests are done to find out if the child has Hirschsprung’s disease or not. These tests include:
The treatment depends on the child’s symptoms, age and general health.Hirschsprung’s disease is treated with a surgery called as pull-through procedure which can be performed by open as well as laparoscopic technique.In this procedure the surgeon removes the abnormal part of the large intestine that lacks nerve cells and the normal proximal part (which has the nerve cells) is connected to the anal opening. Although, It can be done as a single stage procedure, insome cases it may require two stage procedure. A child who is very sick because ofHirschsprung’s disease may first need ostomy surgery (Stoma - opening of the intestine in the abdomen). This helps the child’s intestine to heal before the final pull-through surgery.
It is a major surgical procedure and complications caninclude loss of bowel control (leading to leaking of stools), constipation and infections.
A 6 month old male baby presented with complaints of abdominal distension, diarrhoea and vomiting. The baby had history of delayed passage of meconium since birth. The parents also complained that he had abdominal distension of an on and was not gaining weight. The baby was evaluated and was found to have enterocolitis (infection of the intestine). He was first treated with intravenous fluids and antibiotics, but had persistent abdominal distension. He was taken up for surgery and was found to have dilated large intestine and distal part of the large intestine (beyond the blockage) was thin. He was suspected to have Hirschsprung’s disease, so biopsy of the abnormal intestine was taken and a stoma surgery was done for the healing of the intestine. The biopsy confirmed the diagnosis and so the child underwent pull through procedure after 2 months.