Hirschsprung disease in children – causes, symptoms & treatment in Malaysia
Hirschsprung disease (HD) is a birth defect where the nerve cells are missing in the rectum or large intestine (colon).
These nerve cells are important in controlling the contraction and relaxation of the muscles on the intestine wall. These contractions happen normally to push food and waste through the intestine. When there is absence of these nerve cells (ganglion cells) at the bottom end of the intestine, it remains contracted shut.
Faeces and gas therefore cannot be expelled and hence the normal intestine upstream becomes stretched and filled with faeces and gas under tension. The tummy will in turn get bloated and the baby may start to vomit as there is a blockage downstream.
One of the early tell-tale signs in a newborn is failure to pass meconium (baby’s initial poo which is black in colour) within the first 48 hours of life.
Most children with Hirschsprung’s disease are diagnosed in the newborn period and almost all within the first year of life.
Causes of Hirschsprung disease
Hirschsprung disease happens in 1 in every 5000 children. It is more common in boys and rarely, it can be linked to other associated medical problems. It may run in families, especially the more severe forms where more intestine is involved (long segment Hirschsprungs disease) However, for the common type, only a short segment of intestine is involved and is “sporadic” in occurrence (happen by chance).
Symptoms of Hirschsprung disease
Failure to pass meconium within 48 hours of life
Bloated tummy
Constipation
High pressure farts (loud) or gushes of liquid faeces when opening bowels
Trouble opening bowels
Poor appetite
Poor weight gain
Some babies with HD who are exclusively breast fed may be fine whilst exclusively on breast milk. They may then run into problems or exhibit symptoms only when they wean onto formula milk or solids. It’s useful to know that a normal fully breast fed baby may open bowels at a frequency of 10 times a day and up to once in every 10 days but without any other symptoms or bloated tummy, this is considered normal.
Most babies suspected of having HD is usually whilst still in the hospital, soon after birth, if your baby’s paediatrician is concerned, your child will be referred to a Paediatric Surgeon.
Assessment and tests of Hirschsprung’s disease in Malaysia
Your child’s surgeon will examine your baby’s tummy to see if it’s truly distended and also conduct an examination of your baby’s bottom. If still suspicious of HD, and if the tummy is tense, a gentle saline enema wash using a tiny tube would release gas and faeces and making it less uncomfortable for your baby.
Investigations
A simple tummy X-ray
Contrast Enema (X-ray with a dye through baby’s bottom) may occasionally be done.
Rectal biopsy (the gold standard test). A small probe is used through the bottom to take a tiny sample of the inner lining of the rectum. This will be analyzed at the lab for the presence of the nerve cells in the sample. Absence of this will confirm HD.
Initial treatment
Complications of untreated Hirschsprungs disease are obstruction or infections (enterocolitis). The obstruction which can be extremely uncomfortable and at worst, the intestine can perforate or have a leak due to the high pressure created upstream and this can be life threatening.
The other is an overgrowth of unhealthy bacteria within the intestine causing sepsis or bacteria in the blood once these bacteria migrate into the bloodstream. This too can make the child very ill and again a potentially life threatening condition.
The goal of the initial treatment is to avoid these 2 complications.
Faecal build up in the colon will lead to the above complications, however if the baby is able to evacuate faeces and gas regularly, this won’t happen, otherwise a daily enema wash is required to empty out baby’s colon until corrective surgery is done.
Sometimes a stoma is performed if the enema is not effective in “decompressing” baby’s intestine if there are any complications. In this case, a healthy part of the colon is brought through the wall of the tummy. Then stool is collected in a bag attached to the outside of the child’s body.
B: Longer section of colon effected (common)
C: Rectum, sigmoid and descending colon involved, with no nerve cells (less common)
Surgery for Hirschsprung disease in Malaysia
Samples of the intestinal wall will be taken during the operation by the keyhole (laparoscopic) method to confirm the junction where normal bowel ends and abnormal bowel at the lower end. Surgery will involve removing the effected rectum and colon from the bottom end, up to where it is normal. The normal end if then brought down and attached to the anal end (pull through procedure). The procedure is best performed by the keyhole method or laparoscopic method as the recovery is quick and there are hardly any scars that can be seen in the long run.
Outcomes of Hirschsprung disease surgical treatment
For most children with the standard HD, the outcome from surgery is excellent. Some may need to be on laxatives for a short period of time but they are usually weaned off this. The care of the child after Hirschsprungs surgery is equally important. Regular follow-up and maintaining a good bowel management program (your surgeon will be heavily involved with) will ensure excellent long term outcome.
It’s important that you have a good relationship with your surgeon and his team, to have easy access to him if there are any issues with your child, so it can be acted on promptly.
It is ideal that the diagnosis is made early for Hirschsprung’s disease. Some parents have been found to give regular laxatives and enema to help their child open bowels for years before the diagnosis of Hirschsprungs disease is made.
Hirschsprung’s is a diagnosis to exclude if your child presented with the symptoms described above and for parents to be aware that being on long term laxatives and enema is not normal for any child.
Do look for a surgeon you can communicate with, trust and is experienced, for good outcome for your child.
Dr Nada in SinChew article (02-12-2023)
Click on image for original online article at Sin Chew online.
Parents’ experience with Hirschsprung disease and how Dr Nada helped…
Original article in Chinese at: https://video.cari.com.my/portal.php?mod=view&aid=111351
“I met Dr. Nada through a HD parent Mr. Stephen, when my son was 8 months old, he is a DS child and he diagnosed HD when he was borned. Dr. Nada is a very loving kindness person, he share a lot of knowledge and information with us, he also help my son to reduce a lot of pain and abdominal problems. I hope he keep it up to help more people and found a solution to help more HD patients. Thank you Dr. Nada”
Coco Lee, mother.
“Dr Nada attended to my child’s surgery. A very kind hearted surgeon. Two years ago, my child Zelene Lim was diagnosed with Hirschsprungs disease – leaky intestines. It is a rare condition that causes congenital pain since birth.
Dr Nada provided detailed information on the disease. I am saying this not because he attended to my child’s case. But instead he was willing to help us by accepting my son’s case when some surgeons as far as Penang and Singapore had turned us down. He advised us to fly in to Kuala Lumpur as soon as possible, if my child’s condition allows her to travel. I am thankful that my child has since recovered and thank you Dr. Nada for his concern and commitment.”
Lauren Cu, mother (Indonesia)
