Brief overview
- What is Hirschsprung’s disease?: Congenital malformation of the lowest segment of the colon.
- Prognosis: Prognosis is good with timely treatment and regular checkups.
- Symptoms: Nausea, vomiting, bloated abdomen, delayed or absent passing of the first stool in the newborn (“puerperal vomiting”), constipation, intestinal obstruction, abdominal pain
- Causes: Absence of nerve cells in the last section of the large intestine.
- Diagnosis: typical symptoms, physical examination, x-ray, ultrasound, rectal pressure measurement, biopsy, genetic testing.
- Treatment: In most cases, surgery is necessary.
- Prevention: Hirschsprung’s disease is a congenital disease, prevention is not possible.
What is Hirschsprung’s disease?
In MH patients, peristalsis is disturbed because of the missing nerve cells. The site where the nerves are missing is permanently narrowed (functional stenosis). Depending on how large the affected section of intestine is, the intestinal contents are not transported further or only in very small quantities.
If the bowel does not empty completely, more and more stool accumulates. In the stool-filled, distended section of the intestine, inflammation (enterocolitis) may develop, and in the worst case, intestinal obstruction. If left untreated, this eventually leads to sepsis or to a life-threatening bacterial overgrowth of the colon (toxic megacolon).
Frequency
Hirschsprung’s disease is a rare disease. About one in 5,000 children is born with it every year. Boys are affected about four times more often than girls.
What is the life expectancy of MH patients?
Symptoms
Which symptoms occur depends on the size of the affected intestinal segment and how many nerve cells are missing. In most cases, the typical symptoms occur in the first days of life.
Typical symptoms in babies are:
If the meconium does not clear after the second day, Hirschsprung’s disease may be present. In newborns, a conspicuously thick and distended abdomen may also indicate MH.
Typical symptoms in children are:
- Hard or paste-like, doughy (pasty) stool, occasionally also liquid
- Constant constipation, bowel movements only every two to three days
- Defecation only possible with aids (enema, insertion of finger or thermometer)
- Stool smells very unpleasant
- Abdominal pain
- Vomiting
- Refusal to eat
- Poor general condition
Causes and risk factors
Causes
The reason for the lack of nerve cells is a disturbed embryonic development between the fourth and twelfth week of pregnancy. How this occurs has not been completely clarified. Doctors assume that various factors play a role:
- Reduced blood flow to the embryo
- Viral infections in the womb
- Maturation disorder
Risk factors
Diagnosis
In most cases, the first symptoms appear in infancy. The first contact person when MH is suspected is the pediatrician. The medical history and the typical symptoms provide the first indications of Hirschsprung’s disease. Further examinations by the pediatrician confirm the diagnosis:
Ultrasound examination: An examination of the abdomen using ultrasound enables the physician to detect distension or severe filling of the intestine with stool. In addition, he can see whether the intestine is moving (intestinal peristalsis).
Tissue removal from the intestinal wall (biopsy): From the sixth week of life, a colonoscopy with simultaneous tissue removal (biopsy) is possible. For this, the doctor takes a tissue sample from the intestinal wall and examines it under the microscope and with special tests to determine whether nerve cells are present. The diagnosis is definite if no (or too few) nerve cells are present in the intestinal wall.
Molecular genetic diagnostics: About one third of MH patients are simultaneously affected by trisomy 21 (or other rare chromosomal defects). These can be detected using molecular genetic methods (blood tests), but not the gene changes that trigger MH. These have not yet been fully investigated.
Treatment
Immediate surgery with good general condition
MH patients are usually operated on soon to avoid complications such as bowel obstruction. During the operation, the surgeon removes the affected section of bowel and thus also the obstruction, so that normal bowel movements are possible again. The surgeon performs the operation either through the anus or through the abdominal cavity.
Bridging measures until the operation in case of poor general condition
Sometimes it is necessary to temporarily create an artificial bowel outlet (stoma) before the actual surgery.
After the operation
It takes several weeks for the surgical wound in the intestine to heal and for the colon to function normally again. During this time, it is important for parents of affected children to keep the following points in mind:
- Medications: During the first few weeks after surgery, children are given medications that affect stool consistency. It is important that affected children take the medications regularly.
- Prevent scarring: After surgery, it is necessary to dilate the surgical site in the intestine so that the area does not scar and thus become narrow again. This is done with special pins that stretch the tissue.
Prevention
Since Hirschsprung’s disease is a congenital disorder, there are no measures to prevent the disease.
