Hirschsprung's disease (HD), named after the Danish pediatrician, Dr Harald Hirschsprung when he first described two infants who died of this disorder in 1888, is a disease that affects the colon and causes problems passing stool. With about 1 in 5000 newborns being affected by this disease, it is a birth defect that has a mortality rate between 1% and 10%.
However, the main cause of this disease is still unclear to doctors as well as scientists. It occurs when some of a baby's intestinal nerve cells (ganglion cells which collect information about the visual world) don't develop properly, delaying the progression of stool through the intestines. This disease can also be associated with genetic mutations on the RET gene on chromosome 10 during embryonic development.
Those with HD often face constipation, loss of appetite, delayed growth and abdominal distention, which get worse over time if left untreated.
To further explore the causes of this rare disease, a study was conducted by the Tikur Anbessa Specialized Hospital in Addis Ababa, Ethiopia,
with a 9-year-old boy who had sigmoid volvulus. (the most common type of colonic volvulus which occurs when a portion of the intestine twists around the tissue that holds it in place and cuts off its blood supply)
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To understand the true nature of the boy’s problem of constant abdominal pain, a rectal tube deflation was done. 3 weeks later, this was followed by a full thickness rectal biopsy and a primary trans-anal Soave endo-rectal pull to remove the affected site.
The biopsy and test result showed regular bowel movement and symptoms such as delayed passage of meconium- a newborns first bowel movement, as well as a swollen belly, thus showing that the boy actually had undiagnosed HD showing that sigmoid volvulus can also be associated with HD! With time we are discovering more underlying causes of Hirschsprung's disease, making this disease a true medical conundrum till date.
HD is primarily and most effectively diagnosed through rectal biopsies. In this procedure, doctors take out small pieces of tissues from the rectum which are then examined by pathologists to find signs of HD including the absence of ganglion cells and other abnormal nerve related findings.
Fortunately, this disease has a cure. Newborns affected by HD can undergo surgery to bypass or remove the affected part of the colon by either a pull through survey or an ostomy surgery. Though, ostomy surgeries are more risky as a result of 70% of patients experiencing postoperative complications and a success rate of 39%
Nevertheless, Hirschsprung’s disease is a disease that has undiscovered causes and therefore must be explored!
Written By: Paalvi Tadwalkar
Glossary
Primary trans-anal Soave endo-rectal pull: the removal of the entire affected site and end-to-end anastomosis of the normal colonic anal canal.
Mesentery: The tissue that holds the intestine in place
Abdominal distention: abnormal outward swelling in the abdomen
Ostomy surgery: an operation that changes the way intestinal contents leave the body when part or all of the bowel is diseased, injured, or missing.
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