WHY DOES MY CHILD HAVE “ACCIDENTS” THROUGHOUT THE DAY OR SMEARING, AND WHAT CAN WE DO TO PREVENT IT?
Accidents are common after pull-through surgery for Hirschsprung’s disease. These can range from mild, occasional soiling of the underwear to frequent fecal incontinence. Several studies have tried to determine how often this happens after the pull-through and the rate varies widely, from as low as 10% to as high as 75% of children, with an average of about 50%. read more
There are many possible causes to explain why accidents might be happening, and it is important to consider each of these in order to come up with the most appropriate treatment plan. The work-up should include a good history and a thorough physical examination. In most cases, we also recommend anorectal manometry, a test that involves placing a catheter in the rectum and measuring pressures, sensation, and overall function of the rectum and anal sphincters. Some children may require colonic motility testing, in which a catheter is placed throughout the entire remaining colon and the pressure waves are measured to see how well the colon is squeezing. The results of these tests, combined with an accurate history and physical exam, are critical to developing a treatment plan.
In some children, accidents are due to severe constipation. While this may seem counter-intuitive, constipation, which is also very common after the pull-through surgery, can lead to accumulation of significant amounts of stool that fills the rectum. When this happens, liquid stool can leak around the hard stool and the child is not able to control this. We call this “pseudo-incontinence” or “overflow incontinence” and the treatment is to address the constipation.
“True incontinence” has many possible causes. First, the pull-through surgery typically involves removal of the rectum, which normally serves as a reservoir to hold stool until the child has bowel movement. Without this reservoir, the contractions of the colon continue all the way down to the anus and it can be hard to control bowel movements. Some options for treating this include (1) increasing the bulk of the stool with a high-fiber diet or addition of a fiber supplement, like Metamucil or Benefiber; (2) asking your doctor whether the child may benefit from a medication to slow intestinal motility, such as loperamide; (3) amitryptiline can reduce the pressure waves in the colon and reduce the incidence of soiling.
In some cases, the pulled-through colon may not have normal sensation, so the child may not get the normal signals that it is time to have a bowel movement. In some children, the anal sphincter may have been injured during the operation, making it difficult for the child to control bowel movements. Anorectal manometry testing can help to determine if either of these problems is present. Other causes may contribute to having accidents. For example, the type of bacteria in the colon may not be normal, and adding a probiotic (for example, Culturelle or VSL #3) might help. Food allergies and intolerances are common in children with Hirschsprung’s disease and might contribute to frequent liquid stools, so speaking with your doctor about potential diet changes is important. Finally, if your child is having explosive liquid diarrhea, call you doctor to make sure this isn’t due to enterocolitis.
In most cases, fecal continence improves as the child gets older. Several studies have found significant improvement with controlling bowel movements by around 15 years of age. However, in a small percentage, some soiling can continue into adulthood. There are several “bowel management” approaches that can help. One very effective method is called an “ACE” which refers to antegrade colonic enemas. This requires a surgical procedure either to place a tube into the cecum (the first part of the colon), which is called a cecostomy, or to open the appendix and sew it to the umbilicus, which is called an appendicostomy. In both cases, the goal is to allow the patient to have access to their colon so that they can administer enemas to clean it out daily, usually with polyethylene glycol solution (Miralax or GoLYTELY). When these antegrade enemas are performed effectively, the colon can be kept clean and the incidence of accidents significantly decreased.
Fecal incontinence can be a challenging problem and it is important to talk to your doctor to make sure that all of the necessary tests are done and the appropriate treatments tried in order to do everything possible to reduce the frequency of accidents and improve the child’s quality of life.
WHAT IS THE BEST WAY TO TREAT SEVERE DIAPER RASH?
After your child has their pull-through procedure, you may have frequent bowel movements, especially if a long segment of the colon was removed. The stool can be very irritating to their skin and can cause a red, uncomfortable rash. It is important to start protecting the skin immediately after surgery. The goal is to change the diaper as soon as your child has a bowel movement and to preventthe rash before it occurs. read more
When possible, a tub bath is the most effective and gentle way to clean stool from the buttocks. Having the child sit in the water (also called a sitz bath) for 10-15 minutes can be soothing. An alternative is to use a hand-held shower head and to gently rinse the buttocks.
Sometimes the bowel movements may be too frequent or you may not have enough time to give a bath. Try to avoid diaper wipes which have chemicals and fragrance that can irritate the skin. Clean the skin with water, with or without a mild soap. For convenience, fill a squirt bottle with warm water. You may add a few drops of a gentle liquid soap (e.g. Dove unscented). Irrigate the buttocks to clean and remove stool. Gently pat the skin dry using a paper towel. Do not rub the skin as this small amount of friction can further irritate the skin.
If possible allow the buttocks to have some “air time”. Have the child lie on his/her stomach and allow the buttocks to be exposed to air for 10-15 minutes. This may not always be possible in active infants and toddlers.
Apply a thick layer of barrier paste containing zinc oxide with each diaper change. Ilex, which is petrolatum-based and does not contain zinc oxide, is also very effective.
The following pastes may be ordered online:
ILEX paste available at https://www.ilexhealthproducts.com/ or Amazon. It is alcohol and latex free. The following instructions are from the product’s website:
- Apply a thin coating of Ilex over the area needing protection. You should still be able to see through the layer of ilex to the skin below. Allow to dry for about 30 seconds.
- Apply a layer ofpetroleum jelly (e.g. Vaseline) over the Ilex to prevent the diaper from sticking.
- When cleansing, only the stool should be wiped off using water and the Ilex should be left intact. You can reapply more Ilex if needed, then apply more petroleum jelly. This will minimize any trauma to the already irritated skin.
- The Ilex should only be removed once a day using a soft cloth with mineral oil or baby oil.
IHLE’S paste is available at http://rougier.com or www.well.ca. Ihle’s ontains 25% zinc oxide.
- Apply thick layer with each diaper change.
SMITH & NEPHEW Secura Extra Protective Cream is available athttp://www.smith-nephew.com, and contains 30% zinc oxide.
- Apply a thick layer with each diaper change
The following pastes are available at most department stores and pharmacies:
Triple paste, www.triplepaste.com
Desitin Maximum Strength, www.desitin.com
Dr. Boudreaux’s Maximum Strength, www.buttpaste.com
TREATMENT FOR SEVERE DIAPER RASH
If you child’s diaper rash is more severe or they develop a rash despite use of a barrier cream, there are additional products you can use to treat the skin. read more
- Domeboro Soak. Domeboro is a powder available over-the-counter at most pharmacies. Mix 1 packet of powder with 8 ounces of water in a clean bottle or plastic container. The solution can used for several applications. Soak a washcloth or gauze in the solution and place it over the irritated skin. This solution does not sting. It helps to soothe and dry the moist irritated areas of skin breakdown. Allow the solution to “soak” on the skin for 15-30 minutes. This can be done 3-4 times daily as needed, but even a single soak can be helpful in healing a rash. Then gently pat the skin dry.
- Powder/No-sting liquid skin prep. Apply Stomahesive powder to areas of moist, red irritated skin. You will see it absorb into the area. Dust off excess powder. Then apply a skin barrier/prep over the powder and wait 30 seconds. Layering the products in this manner forms a “crust” or “scar” that protects the irritated skin beneath. If the skin is very red and moist you can repeat 2-3 layers of powder and skin prep. You must always finish with skin prep and allow it to dry thoroughly. If your child has had an ileostomy or colostomy you can obtain these products from the company that provides you with ostomy pouches. You can also order Stomahesive powder or skin preps online:
- Medline Sureprep No-Sting Protective Barrier Wipe (Latex free) Reorder: MSC 1505
- Medline Sureprep No-Sting Skin Barrier Film SPRAY28 mL (Latex free) Reorder: MSC 1528
- 3M Cavilon No-sting Barrier Film#3344 (NDC 83333344-01)
- Safe n’ Simple Skin Barrier Protective Wipes (alcohol free) Product #SNS80744
- Apply a topical barrier paste from the list above.
HOW IS HIRSCHSPRUNG’S DISEASE DIAGNOSED?
Hirschsprung’s disease is suspected if an infant shows evidence of abdominal distention, feeding intolerance, few or no bowel movements, and on occasion ‘bilious’ (greenish) vomiting. While nearly all full-term newborns pass their 1st“meconium” stool within 24-48 hours of birth, babies born with Hirschsprung’s disease do not. Most infants typically will have several bowel movements during an average day, whereas children with Hirschsprung disease may have few to no bowel movements during a 24-hour period or strain to evacuate. read more
Physical examination often shows an irritable infant. The abdominal exam frequently reveals a distended abdomen. Passage of a dilator or a small finger into the rectum may result in an explosive bowel movement.
If an infant or child is suspected of having Hirschsprung’s disease, the initial test is often an abdominal film to see if there is evidence of distention of the intestine. This study may be followed by a contrast enema. In children with Hirschsprung’s disease, the lower part of the colon and rectum will usually look narrow, with distension of the more proximal large intestine. If the clinical signs and symptoms and abdominal radiographs suggest that the child might have Hirschsprung’s disease, then the most definitive test to establish the diagnosis is to perform a suction rectal biopsy, which can be done without any anesthesia. Microscopic examination of a small piece of the rectum should demonstrate nerve cells in the rectal wall. If nerve cells are not found, the diagnosis of Hirschsprung’s disease is established.
As a screening test, some centers are using anorectal manometry, a test which determines if the anal sphincter relaxes appropriately following rectal distention. This test is not accurate in the premature infant (under 37 weeks gestational age) or in infants weighing less than 2.5 kg. Even if the manometry results are consistent with Hirschsprung’s disease, few physicians would assign the diagnosis of Hirschsprung’s disease without a rectal biopsy, which remains the gold standard in determining whether or not a child has Hirschsprung’s disease.
Although 85-90% of children with Hirschsprung’s disease are discovered in the first year of life, an older child may be found to have Hirschsprung’s disease. These children typically have very severe constipation, failure to thrive, and often abdominal distention. Evaluation for an older child is similar in terms of imaging studies (plain abdominal x-ray and a contrast enema). A bedside rectal biopsy may be more difficult to perform in an older child simply because the rectum is much thicker. In these cases, a rectal biopsy under anesthesia may be necessary to establish the diagnosis.
HOW DO I KNOW IF MY CHILD’S LOOSE BOWEL MOVEMENTS ARE JUST THAT OR IF THEY ARE A SIGN OF ENTEROCOLITIS?
As most parents know, an infant’s bowel movement is typically loose, yellow, and seedy and trying to distinguish between a ‘loose’ bowel movement and enterocolitis may be difficult. With enterocolitis, the abdomen will usually be distended. The bowel movements may be unusually foul-smelling, very liquidy, and parents may see mucousy material or even blood mixed with the bowel movement. Children with enterocolitis can also display other signs, including increased irritability, lethargy, or feeding intolerance (more spit-ups and less interest in eating). As the enterocolitis progresses, a fever can develop and the child can even have signs of shock (pale color, cool extremities, little urine output, very lethargic). read more
Hirschsprung-associated enterocolitis is the major cause of morbidity and mortality in infants who have Hirschsprung’s disease. If caught early, treatment may be managed as an outpatient after a brief period of observation. The usual treatment is oral antibiotics and rectal irrigation. However, if the infant is very sick, hospitalization with intravenous antibiotics, rectal irrigations, and even admission to an intensive care unit for close monitoring may be necessary.
An important take away message regarding enterocolitis is this: If a child with Hirschsprung’s disease develops diarrhea and a distended abdomen, or if you are concerned about any of the signs mentioned above, call your pediatric surgeon or gastroenterologist. It is far better to treat enterocolitis early in its course than waiting until it gets more serious.
TIPS FOR POTTY TRAINING A CHILD WITH HIRSCHSPRUNG’S DISEASE?
Before starting a bowel training program parents should speak with their child’s healthcare provider about the frequency and consistency of stool. The typical goal for children is 1-3 soft bowel movements per day at least three days per week. Children with long-segment Hirscshsprung’s disease, who have had extensive parts of the colon or even small intestine removed, may of course have more frequent stools. Dietary modifications and medications may be required in cases where the frequency of stooling is either too little or too much. If possible, it is helpful to address these issues as best as one can prior to starting potty training. read more
Constipation is very common in children with Hirschsprung’s disease even after surgery. Parents should be aware of the signs of constipation:
- Difficulty or straining with bowel movements
- Pain or discomfort associated with bowel movements
- Less than 3 bowel movements per week
- Small or hard stool
- Large diameter of stool that may obstruct the toilet
- Frequent soiling
If any of the above are noted, you should contact your child’s healthcare provider. Your healthcare provider will help you develop a treatment plan for constipation that may include laxatives like Miralax, colace, senna, or magnesium sulfate. They will also suggest dietary modifications to assist in diminishing constipation such as increased fluid and fiber intake. You may also note that there are some foods that are more constipating to your child than others such as cheese, bananas, and rice, and these might need to be reduced or eliminated. More severe cases of constipation that do not improve with diet changes or laxatives require medical attention.
A child that is having loose bowel movements or frequent soiling can still be constipated. Overflow incontinence occurs when chronic constipation stretches the rectum and over time decreases the sensation to expel stool. This causes stool to sit, accumulate, and harden in the colon and create a blockage. Overflow incontinence then occurs when small amounts of loose stool leak around the blockage and out of the rectum. Often this is confused with diarrhea, leading to withholding of laxatives, which worsens the constipation and the leakage.
Once you have established a bowel regimen for your child with your healthcare provider you may begin potty training. Potty training for children with Hirschsprung’s disease can be stressful for both parents and the child. Getting into a routine for using the toilet can be very helpful.
- Around the age of 12 months children should start sitting on the toilet after every meal.
- Bubbles can be helpful in encouraging children to blow, push, and bear down. These actions help increase the abdominal pressure and empty the rectum.
- Choose a seat that allows for them to sit comfortably with their knees slightly higher than their hips and their feet flat on the floor. Toilet seat reducers are especially helpful as they have an adjustable foot rest.
- Limit toilet time to no more than 25 minutes at a time.
- Most importantly, try to be consistent with the toilet training program, don’t get stressed about it, and help your child to enjoy it.
REACH FIRST FRIDAYS QUESTIONS ANSWERED: GENETICS
HD runs in families in about 10% of cases. The length of bowel that is missing ganglion cells may be different among various members of the same family, so we always have a higher index of suspicion for HD in a sibling who has constipation. The least invasive screening test in a six year old is anorectal manometry, looking for presence of the recto-anal inhibitory reflex (RAIR). If the RAIR is present, it is not HD and you can comfortably treat the child for functional constipation. If the RAIR is absent, it could be either HD or a condition called internal sphincter achalasia (which some people also call ultrashort segment HD). Therefore the next step would be a rectal biopsy to determine if it’s HD or not. If the rectal biopsy shows normal ganglion cells, you could consider an injection of Botox, which sometimes helps children with internal sphincter achalasia. read more
Since Hirschsprung disease is a genetic condition, parents who have one affected child have an increased chance of having another child with this disorder. In general, the risk that a sibling of a child with HD will have it is about 4%, but it is much more complicated than that because the inheritance pattern of HD is complex.
- For a boy with short-segment HD, the risk is 5% for a brother and 1% for a sister.
- For a girl with short-segment HD, the risk is 5% for a brother and 3% for a sister.
- For a boy with long segment HD, the risk is 17% for a brother and 13% for a sister.
- For a girl with long-segment HD, the risk is 33% for a brother and 9% for a sister.
Therefore, in this situation, the chance that the sister has HD is only about 1%. But, even so, we always have a higher index of suspicion for HD in a sibling with constipation. The least invasive screening test in a six year-old is anorectal manometry, a test in which the doctor places a catheter into the rectum and inflates a balloon to look for the presence of the recto-anal inhibitory reflex (RAIR). This is the normal relaxation of the anal sphincters that occurs when a balloon is inflated in the rectum. If the RAIR is present, the child does not have HD and you can comfortably treat the child for functional constipation. If the RAIR is absent, it could be HD or a condition called “internal sphincter achalasia,” which some people also call “ultrashort segment HD.” In that case, the next step would be a rectal biopsy to determine if it is HD or not. If it is, then surgery should be performed. If the rectal biopsy shows normal ganglion cells, then it is not HD and we would consider an injection of Botox into the internal anal sphincter, which can relax the muscle and help children with internal sphincter achalasia.
REACH FIRST FRIDAYS QUESTIONS: FEVER
Fever is very common in babies and can be caused by a large number of problems. The main concern in a HD baby is that the fever may be due to enterocolitis. If he has abdominal distension, diarrhea, or vomiting associated with the fever then he should be seen by a doctor quickly, since it’s often difficult to tell the difference between gastroenteritis and enterocolitis. If he does have any of those symptoms and you know how to do irrigations, you should start them as well. Fever by itself is probably not enterocolitis, but if it persists for more than a couple of days then he should see the doctor to rule out other causes. It is always safest to call your paediatric surgeon if you are concerned.
REACH FIRST FRIDAYS QUESTIONS: FEATURES, CONDITIONS OR DISORDERS RELATED TO HIRSCHSPRUNG DISEASE SPECIAL GUEST, JOHNS HOPKINS DR. ARAVINDA CHAKRAVARTI, PROFESSOR OF MEDICINE, PEDIATRICS, MOLECULAR BIOLOGY, GENETICS & PROFESSOR OF BIOSTATISTICS
From our earliest studies in 1990 and a review of the literature we found that Hirschsprung disease (HSCR) cases have an elevated risk of Down syndrome (Relative Risk, RR = 19) and congenital heart defects (most commonly septal defects, both related to and unrelated to Down syndrome) (RR = 6) which are the two most common findings. Moreover, other rare anomalies also occurs in excess such as additional GI anomalies (RR = 113), polydactyly (RR = 10) and cleft palate (RR = 14). read more
There have not been good studies of such genetic findings and so we do not know which aspects occur as part of a syndrome (such as Mowat-Wilson syndrome) and which occur without a named or recognized syndrome. However, given that 18% of cases have a chromosomal finding and 12% additional structural anomalies these are expected to be common in the HSCR population. We desperately need such a study.
ADDITIONAL NOTES FROM CERTIFIED GENETIC COUNSELLOR AND MEMBER, HDRC STEERING COMMITTEE, COURTNEY BERRIOS:
First, I would note that the conditions of Down syndrome, polydactyly (extra fingers or toes), and cleft palate would be apparent at birth if present. A severe congenital heart defect would also likely be symptomatic at birth, though some physicians may order an echocardiogram in infants diagnosed with HD to ensure that a less severe heart defect is not missed. I say this just so that parents who may not be familiar with these conditions know that these are not items that would develop as a child ages and so could be ruled out in an infant. read more
Second, I’ve found that sometimes when parents hear about the association of HD and Down syndrome they wonder if that means that a family who has a child with HD then has a greater chance to have a future child with Down syndrome. That is not the case. Children with Down syndrome are more likely to have HD than children who do not have Down syndrome, so it’s thought that there may be something about an extra chromosome 21 that contributes to HD. No definitive HD gene has been found on chromosome 21 though. The lab published a study in 2010 showing that some of the common risk variants in the RET gene that are associated with HD in the population also appear to interact with trisomy 21 to increase the chance of HD in children with Down syndrome.
Lastly, recent studies are allowing us to see the diversity of genetic variants and chromosomal anomalies that are seen in HD. Some of these are known syndromes that involve HD, but many genetic findings are only seen once or in small numbers in current studies, I agree we need larger studies to understand how each genetic finding is associated other health conditions. We also need more detailed clinical information about study participants to help determine if more subtle features or health conditions are associated with HD.
FURTHER NOTES FROM DR. CHAKRAVARTI'S GENETIC COUNSELLOR DR. JIN YAN:
About 30% of children with HSCR also have additional conditions at birth that appear more often than in children without HSCR. Of these the most frequent are Down syndrome (a chromosomal anomaly) and congenital heart defects (heart abnormalities present at birth). Other conditions that are seen less often include polydactyly (extra fingers or toes) and cleft palate (an opening in the roof of the mouth), and less frequently, gastrointestinal, kidney, urinary tract, hearing and vision problems. Other conditions involving the brain and spinal cord have also been observed. read more
The child with HSCR may have additional developmental problems simply by chance. However, there are specific circumstances where the child with HSCR has a ‘syndrome,’ or a medical condition with multiple signs and symptoms appearing together. Some syndromes have an increased risk for particular symptoms along with HSCR, including those involving the heart, brain, and eye conditions. About 12% of cases of HSCR have a syndrome due to changes in their chromosome content, such as the extra chromosome 21 that leads to Down syndrome and is associated with specific facial features, intellectual disability, and heart defects. In other cases of HSCR, such as the Shah-Waardenburg syndrome, arising from mutations in the EDNRB, EDN3, or SOX10 genes, HSCR is associated with hearing loss and pigmentary changes in the skin and hair. Children with a syndrome, such as Down or Shah-Waardenburg syndromes, are more likely to have HSCR than children who do not have these syndromes, but this does not mean that a family who has a child with HSCR has a greater chance to have a future child with that syndrome.
Many of the conditions related to HSCR, including chromosomal conditions, congenital heart defects, polydactyly, and cleft palate, can be determined at birth and do not develop as a child ages. In other cases, doctors may order screening for conditions that are not apparent at birth because some of the symptoms may be mild. For example, although features of a severe congenital heart defect typically show symptoms at birth, an echocardiogram in babies diagnosed with HSCR may ensure that a less severe heart defect is not missed. Kidney ultrasound, hearing tests, and vision tests may also be used for screening additional conditions.
REACH FIRST FRIDAYS QUESTIONS: STOOL & POTTY TRAINING
Q: My 4 year old son was diagnosed with short segment HD and had surgery in 2013. His stool just finally started turning into more solid than liquid. We were pressured to potty train him and make him wear underwear at school. He used to poop 2-5x daily as he felt the urge. Now he holds it in for days. Should I be concerned if he is getting so constipated that he pukes at night from holding his BM in? His stomach is so full and bloated I can see his intestines outlined and all the gas is trapped in there. His physician said it was okay. The hospital said this amount of bloating was okay but I worry that he can't feel the sensation to go now that he's been holding it in for a few months. Or maybe he's just scared of passing stool. I've used suppositories and a few days later his belly is overwhelmingly full again and causing him to puke after dinner. read more
A: There are several reasons why children with HD stop stooling, but the fact that he did well after the operation, and only developed this problem around the time of potty training suggests that he is withholding stool. This means that he himself is holding back his bowel movements. Young children can be very strong-willed and simply choose not to pass stool, often because they associate stooling with pain.
It is important not to push the toilet-training too hard or start before the child is ready. Children with Hirschsprung’s often take longer than regular children to accomplish potty training. Kids need to decide when they are ready. If the stools are hard, starting a stool softener like Miralax can be helpful so that the stools are soft and pass easily, without any discomfort. It is also sometimes helpful to give a daily stimulant laxative like Senna or Bisacodyl, and go back to diapers for a little while until he gets back on track. We don’t want him to hold on to his bowel movements to the point that he is getting bloated. It’s important to get him to evacuate more consistently. We would highly recommend that you see a pediatric surgeon or pediatric GI specialist in your area who can help you to sort this out.
REACH FIRST FRIDAYS QUESTIONS: TRAVEL TIPS
If you have a child with Hirschsprung disease, it’s important to be prepared when you’re traveling. In many cases, your child may be doing very well and have no active issues. In that case, no specific preparations are needed. However, many children may have ileostomies or colostomies, or perhaps need rectal irrigations on occasion. Or maybe you are still in the process of doing anal dilations either before or after pull-through surgery. In all of these situations, it’s worth being prepared when you go out of town. read more
- If your child has an ostomy, be sure to travel with plenty of ostomy supplies for the whole trip since those can be difficult to find when you’re out of town.
- Children with ostomies (especially ileostomies) can get dehydrated quickly if they develop diarrhea or if they don’t drink enough, particularly on a hot day. Bring some pedialyte, gatorade, or other electrolyte-containing drink in your suitcase so your child has something to drink while you find a local grocery store or pharmacy to buy more.
- If your child is still being dilated, don’t forget to bring your dilators with you. And don’t forget to bring lubricant as well.
- For children who need occasional (or frequent) irrigations, bring all your supplies – catheter, bottles of saline, lubricant, and a syringe. If you need to bring these on the plane, get a note from your surgeon explaining the need to bring liquids on board. There is no guarantee they’ll allow it, in which case you may need to put it in your suitcase.
- Ask your surgeon if they know any pediatric surgeon in the town where you’ll be. It’s always helpful to have a phone number just in case an issue comes up.
A QUICK HISTORY OF HIRSCHSPRUNG DISEASE
Hirschsprung disease is also known as ‘congenital megacolon’ and is caused by the absence of nerve cells (ganglion cells) in the lower end of the intestine. The first description of this condition was by ancient Hindu surgeons in the Shushruta Samheta, which dates back to between the 6th and 1st century BCE. The first description in the modern medical literature is from 1691, when a Dutch physician described finding a huge colon in an autopsy of a 5-year-old girl who suffered from severe constipation and abdominal distension. It was in 1886 that Harald Hirschsprung, a pediatrician from Copenhagen, gave a lecture at a pediatrics conference in Berlin where he described two infants who died after having severe constipation since birth. The disease was ultimately named after him in recognition of his important observations. Interestingly, Dr. Hirschsprung noted that the infants had a narrow rectum and a very enlarged colon. This was an important observation, but the cause of the narrow rectum (which is due to the absence of nerve cells in that part of the intestine) was not identified until 60 years later. In those days, most children with congenital megacolon died from malnutrition and enterocolitis, and because doctors didn’t understand the cause of the disease, the only thing that surgeons could do was to remove the massively dilated bowel and create a permanent colostomy. read more
Although the absence of ganglion cells in children with Hirschsprung disease was first noted in a pathology journal in 1901, it wasn’t until the 1940s that surgeons and pediatricians caring for these children became aware that this was actually the cause of the disease. In 1948, Dr. Orvar Swenson performed the first successful “Swenson procedure” in which the abnormal narrow bowel was removed and the normal bowel above it was sewn to the anus. He published his seminal paper describing his operation in the New England Journal of Medicine in 1949, and six years later published another paper in the same journal describing the use of rectal biopsy to diagnose the disease. Over time, other operations were described, including the Soave and Duhamel procedures, and all three operations are still performed today. More recently, these operations are being done using transanal and laparoscopic techniques, which shorten hospital stay, decrease pain, and produce less scarring.
We’ve come a long way since the ancient Hindus!
IS THERE A CONNECTION BETWEEN HIRSCHSPRUNG'S AND ALLERGIES? AS I HAVE SPOKEN TO OTHER PARENTS WHOSE CHILDREN ALSO HAVE SEVERE COWS MILK PROTEIN ALLERGY?
We hear this frequently from patients. It appears that many children with HD have food intolerances or allergies, especially to dairy, but also to fruits, vegetables, and other foods. We don’t know why this happens, but it does seem to be a real association. It’s important for doctors and families to be aware of this so that if their child develops GI symptoms (abdominal pain, nausea or vomiting, diarrhea, blood in the stool etc), they should consider the possibility of a food intolerance or allergy, especially to milk.
A cow’s milk protein allergy can mimic the symptoms of Hirschsprung disease in a young child, so it is important for doctors to do the appropriate testing for children with constipation and bloating who have a rectal biopsy that rules out Hirschsprung disease. In addition, there is one study from Japan which suggests that children with Hirschsprung disease who have a cow’s protein allergy may have a higher risk of developing enterocolitis. However, further research needs to be done to verify this finding.
A 2017 ARTICLE STATED AN INGREDIENT IN SOME SUNSCREENS MAY CONTRIBUTE TO HIRSCHSPRUNG'S DISEASE. THE ARTICLE SAYS: "IN HUMANS, OXYBENZONE HAS BEEN REPORTED TO PRODUCE CONTACT AND PHOTOCONTACT ALLERGY REACTIONS, IMPLEMENTED AS A POSSIBLE ENDOCRINE DISRUPTOR AND HAS BEEN LINKED TO HIRSCHSPRUNG'S DISEASE.
BP-3, also called benzophenone-3, is commonly used in sunscreen since this chemical is able to absorb and scatter UV radiation. It has some known side effects, including allergic reactions on the skin and some effects on hormone activity, although the hormone effects have only been shown in lab animals. Interestingly, this chemical is absorbed through the skin and a small amount of it enters the circulation and gets excreted in the urine. This means that exposure levels to BP-3 can be determined by measuring the levels in the urine.
A recent research study from China was published in 2016 looking at whether BP-3 was associated with Hirschsprung disease. They found that mothers of children with Hirschsprung disease had higher levels of BP-3 in the urine than mothers whose children did not have Hirschsprung. They also showed in the lab that BP-3 affected how cells migrated and also decreased the expression of RET protein, a protein important in normal development of the enteric nervous system. These results suggest that there MAY be an association between maternal exposure to BP-3 and the development of Hirschsprung disease in a baby. HOWEVER, only one study has looked at this and we cannot conclude definitively that there is a link. Nevertheless, the evidence at least should raise some concern and hopefully lead to more research on this question.
DOCTORS AND THEIR SPECIFIC ROLES: PEDIATRIC SURGEONS/ GASTROENTEROLOGIST
Hirschsprung disease is usually managed by a pediatric surgeon since they typically have the most training and expertise taking care of children with this diagnosis. In many centers, the pediatric surgeon takes care of all GI-related issues in these children, including constipation, diarrhea, incontinence, bloating, abdominal pain, vomiting, or other similar symptoms. In some cases, a child with HD may be referred to a pediatric gastroenterologist. The gastroenterologist often can help when there are questions about nutrition, weight gain, food allergy, or any other GI-related concerns. If your child is seeing both a pediatric surgeon and a gastroenterologist, it is important that they communicate with each other so that their plans are aligned. Even if you are seeing a gastroenterologist, we would recommend that you continue to see the surgeon as well.