Hirschsprung's disease: How a toddler's dangerously severe constipation was cured

The baby's condition was a result of missing nerve cells in the muscles of the baby's colon and was cured through Per-Rectal Endoscopic Myotomy (PREM) procedure

baby child toddler Image used for representation

Recently, a two-year-old baby was diagnosed with a condition that caused her severe constipation for close to two years. He was diagnosed with Hirschsprung’s disease -  a congenital condition which affects the colon, that is the large intestine thereby causing problems with passing stools. 

The condition is a result of missing nerve cells in the muscles of the baby's colon. This means that when nerve cells in the lower part of the large intestine fail to develop, it leads to the accumulation of stool which in turn causes blockage and leads to chronic constipation and bowel obstruction, which can be dangerous. 

The toddler, who was diagnosed with the disease at Mumbai's Gleneagles Hospital, had been solely dependent on daily enemas - involving insertion of liquid directly into the rectum to help one excrete. He was also found to have abdominal pain and swelling. 

The most common treatment for Hirschsprung's disease so far has been surgery that is either open or laparoscopic where the affected part of the intestine is removed and rejoined. However, of late, a newer procedure has come to the aid of doctors treating patients of Hirschsprung's disease and that is a minimally invasive and scarless endoscopy technique; rendering surgery an alternative treatment option as against the only one available. 

The procedure called Per-Rectal Endoscopic Myotomy (PREM) was performed on the two-year-old, whose parents reportedly said that the baby was suffering from "severe constipation lasting into a week at a stretch," right after he turned a month old. 

"His tummy would be swollen with gas, and his weight gain remained poor," the family said. A few diagnostic tests such as barium enema, endoscopy biopsy, and manometry confirmed the condition. Dr Vibhor Borkar, a paediatric gastroenterologist at Gleneagles Hospital, said, “In very young babies, delayed passage of the first green potty that is meconium can be an early sign of this disease. Older children usually suffer from swollen stomachs, vomiting, poor weight gain, and constant constipation while some may suffer from infections."  

The baby is now "free of symptoms, eating well, and passing stool without the requirement of enema," the hospital authorities reportedly said. "Though this is a congenital condition, antenatal diagnosis is extremely difficult and the child becomes symptomatic after birth only," said Dr Borkar.  

This procedure is done under general anesthesia, endoscopically where a small cut is made just inside the anus of the patient. From this cut, a tunnel was made within the layers of the intestine and non-functional segment of the intestine which lacks nerves was cut internally, explained, Dr Dr. Shankar Zanwar, Interventional gastroenterologist.  "The entry cut is then closed with clips. As the procedure is done endoscopically no scar or cut is seen on the body surface and the patient is pain-free after the procedure. The entire procedure lasted 3 hours. The procedure allowed us to manage the condition without traditional open surgery. Globally, only 13 such procedures have been reported, and this is the first case to be treated by the endoscopic method in the city of  Mumbai," he added.  

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