Hirschsprung’s Disease

Evidence 

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.7372 

1. Slodki, A. Chilarski, M. Respondek-Liberska

Hirschsprung disease is rare congenital anomaly caused by the failure of ganglion cells to migrate cephalocaudally through the neural crest leading to an absence of ganglion cells in all or part of the colon. It occurs in 1 of 5000 births. There are only a few case reports about prenatal diagnosis. 

Education 

Hirschsprung's disease is a condition babies are born with that affects the large intestine. It happens when some nerve cells that help move poop through the intestine are missing. Without these cells, part of the intestine gets blocked, causing constipation and other problems. 

The signs of Hirschsprung's disease can vary depending on the extent of the affected intestine. In newborns, common symptoms may include: 

   - Failure to pass meconium (the baby's first stool) within 24 to 48 hours after birth. 

   - Abdominal swelling or distention. 

   - Vomiting, particularly of green or yellow fluid (bile). 

   - Constipation or difficulty passing stool. 

   - Poor feeding and slow weight gain. 

Hirschsprung's disease is typically diagnosed based on the baby's symptoms, physical examination and diagnostic tests.  

Treatment 

The main treatment for Hirschsprung's disease is surgery to remove the affected portion of the intestine. The goal of surgery is to restore normal bowel function and alleviate symptoms. 

After surgery, babies with Hirschsprung's disease may require close monitoring to ensure proper healing and recovery. They may also need support with feeding and managing bowel movements. Some children may experience complications such as enterocolitis (inflammation of the intestine) after surgery, which requires prompt medical attention. 

Empowerment  

With timely diagnosis and appropriate treatment, most children with Hirschsprung's disease can lead healthy lives. However, ongoing follow-up care and monitoring by paediatric specialists is important to address any potential complications or long-term issues related to the bowel function. 

Parents of newborns diagnosed with Hirschsprung's disease may benefit from counselling and support from healthcare professionals to understand the condition, treatment options and expected outcomes.  

Useful Links 

Perth Children’s Hospital 

https://pch.health.wa.gov.au/~/media/Files/Hospitals/PCH/General-documents/Patients-and-Families/Health-facts/Hirschsprungs-disease--Keeping-our-Mob-Healthy.pdf 

Through the unexpected 

https://throughtheunexpected.org.au/ 

Panda - Perinatal Anxiety & Depression Australia 

https://panda.org.au/ 

For When – Perinatal mental health and wellbeing  

https://forwhenhelpline.org.au/