It’s not uncommon for children to experience occasional tummy troubles. Sometimes it’s something they ate, and other times they may simply not be feeling well. And from time to time, everything from diarrhea to occasional constipation can all be typical parts of life.
But sometimes, those tummy pains or difficult bathroom trips are a sign that something more serious is at play. If your child has difficulty fully emptying their bowels, they might have Hirschsprung disease.
Defining Hirschsprung disease, as well as outlining how it’s treated, can help parents make informed decisions if their child is diagnosed with this condition.
But with Hirschsprung disease, some of those nerve cells are missing, so the intestines do not function properly. Instead, the stool moves as it typically should until it reaches the part of the intestines that lacks nerve cells. At that point, the stool either moves slowly or stops moving entirely, which leads to blockage.
There are multiple types of Hirschsprung disease, but the most common type, which is present in roughly 80% of all children with the disease, is short-segment Hirschsprung disease. In this condition, nerve cells are missing in the rectum and also potentially in the lower part of the colon.
Other types of the disease can include:
- Long-segment Hirschsprung disease: nerve cells are missing from the rectum as well as the longer part of the colon.
- Total colonic Hirschsprung disease: nerve cells are missing from the rectum and the entire colon. But nerve cells are present in the small intestines.
- Small intestinal Hirschsprung disease: nerve cells are missing from the rectum, colon, and the end of the small intestines.
- Total intestinal Hirschsprung disease: nerve cells are missing from both the rectum and colon and potentially all or nearly all of the small intestine.
If there’s a family history of a parent or sibling having Hirschsprung disease, there can be an increased chance of this condition occurring at birth.
Additionally, sometimes Hirschsprung disease is also present alongside other conditions.
In particular, 30% of children who have Hirschsprung disease at birth are born with other atypical conditions that affect another part of the body, such as the head, face, heart, or hands. Sometimes the disease is present in babies born with Down syndrome or another chromosomal conditions.
When nerve cells in the intestines do not develop properly before birth, Hirschsprung disease can occur. Currently, there’s no clear understanding of what causes this condition, but some experts have suggested that certain genes could determine whether a child develops Hirschsprung disease.
Symptoms of Hirschsprung disease can sometimes
Hirschsprung disease symptoms in newborns
- brown or green vomit
- swollen belly
- difficulty feeding
- explosive diarrhea after a doctor inserts a finger in the baby’s rectum
Hirschsprung disease symptoms in older babies, children, and adults
Not all babies with Hirschsprung disease have symptoms right away, and some people are not diagnosed until later in life. But common symptoms seen in older babies and children include:
- chronic constipation that does not improve with taking oral laxatives
- swollen belly
- malnutrition, which is also known as failure to thrive for infants or children weighing less than the expected weight at their age
Keep in mind that for older children, the above symptoms can also be caused by other conditions. So healthcare professionals may not always immediately assume that Hirschsprung disease is the cause. Adult Hirschsprung disease is rare, but symptoms in this age group are the same as those seen in older babies and children.
According to the National Organization for Rare Diseases (NORD), usually 85% to 90% of people are diagnosed with Hirschsprung disease in early infancy because of a failure to pass the first stool, or meconium.
The most common diagnostic tool currently used to determine if Hirschsprung disease is present is a suction biopsy of the rectum.
With this test, doctors take a sample of tissue and screen it for the absence of ganglion (nerve) cells. If the cells are missing from the sample, Hirschsprung disease is most likely present. Further screenings can include abdominal X-rays to determine if there’s an intestinal blockage and if so, how pervasive, or widespread, the condition has become.
Other testing can include an anorectal manometry to determine if the rectum is functioning properly, and a contrast or barium enema to determine the health and function of the large intestines.
In some cases, a person with Hirschsprung disease may also have other instances of atypical development present. In this case, a clinical geneticist might be brought in to determine an underlying diagnosis.
For most people diagnosed with Hirschsprung disease, surgery is the standard treatment. Depending on the type of Hirschsprung disease, different procedures might be used.
There are two main types of Hirschsprung disease surgeries: pull-through procedure (corrective surgery) or ostomy surgery.
During a pull-through procedure, a surgeon removes the part of the large intestines that’s missing nerve cells. Then the remaining intestines are surgically connected to the rectum. This surgery is done either laparoscopically or via open surgery.
This surgery is usually recommended for people who have more serious complications like perforations, megacolon, or Hirschsprung-associated enterocolitis. An ostomy essentially allows the intestines time to heal. The procedure may sometimes be recommended before performing a pull-through procedure.
For an ostomy, a surgeon creates a stoma that’s connected to the large or small intestine depending on the type of Hirschsprung disease a person has. Waste will then pass out of the body through the stoma — completely bypassing the rectum.
Usually, this is a temporary situation until the intestines have healed enough to complete a pull-through procedure.
Stool appearance can vary depending on the type of Hirschsprung disease. For people with the short-segment type, stool may be small or watery. For those who develop enterocolitis, explosive diarrhea also commonly occurs.
What is the life expectancy for someone with Hirschsprung disease?
Because of scientific advances, it’s become less likely that Hirschsprung disease is a fatal condition. When diagnosed early, most infants and babies can go on to live full lives.
But it’s important to know that even after surgery, it’s not uncommon for some people to still experience complications such as digestive upset, constipation, or even enterocolitis.
What are the three clinical manifestations of Hirschsprung disease in an infant?
The primary sign that a baby might have Hirschsprung disease is their inability to pass the first stool within 48 hours of birth. Additional signs can include vomiting (seeing brown or green substances in the regurgitated content) and a swollen abdomen.
Can Hirschsprung disease be cured?
Currently, surgery is the only cure for Hirschsprung disease. This can include a pull-through surgery to remove the affected portions of the intestines or an ostomy to create a stoma to redirect waste out of the body.
What is the main cause of Hirschsprung disease?
Most experts believe that several different genetic mutations linked to incomplete nerve cell development in the intestines causes Hirschsprung disease. According to research, roughly 50% of people that were diagnosed have one of those genetic abnormalities.
For most people, Hirschsprung disease is caught very early in life due to identifying a failure to pass the first stool, or meconium, within 48 hours of birth. This is considered the most common symptom of the condition.
Left untreated, Hirschsprung disease can lead to blockage, bacterial infections, and even death in extreme cases. But when the condition is treated, even though other digestive issues might persist, most people go on to live full lives.