Case Of Hirschsprung’s Disease

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Source: The New England Journal of Medicine

A 3-day-old infant presented with abdominal distension and inability to pass stool, diagnosed with Hirschsprung’s disease.

A 3-day old infant was brought to the hospital with symptoms of vomiting, abdominal distension, inability to pass stool and inability to breastfeed. The infant was diagnosed with Hirschsprung’s disease.

On physical examination the infant’s abdomen was notable for distension and was resonant to percussion. However, there were no audible bowel sounds. Similarly, a radiograph of the abdomen was also performed which revealed dilated colonic loop, diagnostic of distal intestinal obstruction. An enema with water-soluble contrast material was performed which showed a transition zone.

An exploratory laparotomy was performed because of an absence of the facility of bedside rectal suction biopsy. The laparotomy revealed a transition zone in the sigmoid colon, consistent with short-segment Hirschsprung’s disease. A transition zone occurs with dilated normal colon above and with a narrowed aganglionic colon below. A marked change in caliber occurs. Additionally, a full-thickness biopsy sample of the distal, narrowed colon was also obtained. Histopathological analysis of the biopsied sample showed no ganglion cells which confirmed the initial diagnosis.

Hirschsprung’s disease is characterised by an absence of myentric and submucosal ganglion cells. The ganglion cells help in coordinating and facilitating bowel relaxation. If the movements are absent the bowel becomes spastic, resulting in distal intestinal obstruction.

A loop colostomy was performed to decompress the colon. The infant was discharged after 7 days of the procedure and had an uneventful postoperative period. A pull-through operation was subsequently performed. At follow-up the infant remained well even after 6 months of presentation.

References

Transition Zone in Hirschsprung’s Disease https://www.nejm.org/doi/full/10.1056/NEJMicm2007613

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Dr. Aiman Shahab is a dentist with a bachelor’s degree from Dow University of Health Sciences. She is an experienced freelance writer with a demonstrated history of working in the health industry. Skilled in general dentistry, she is currently working as an associate dentist at a private dental clinic in Karachi, freelance content writer and as a part time science instructor with Little Medical School. She has also been an ambassador for PDC in the past from the year 2016 – 2018, and her responsibilities included acting as a representative and volunteer for PDC with an intention to make the dental community of Pakistan more connected and to work for benefiting the underprivileged. When she’s not working, you’ll either find her reading or aimlessly walking around for the sake of exploring. Her future plans include getting a master’s degree in maxillofacial and oral surgery, settled in a metropolitan city of North America.

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