Hirschsprung’s Disease

Hirschprung’s Disease

Hirschsprung’s disease is a congenital condition where ganglion cells of the enteric nervous system are absent in a distal portion of the bowel, most often the sigmoid colon and rectum.

Enteric Nervous System

The enteric nervous system (the brain of the gut) consists of two plexuses:

• Myenteric plexus (Auerbach’s plexus), primarily responsible for peristalsis

• Submucosal plexus (Meissner’s plexus), regulates fluid secretion, blood flow and absorption

Pathophysiology Of Hirschsprung’s Disease

In Hirschsprung’s disease, the ganglion cells of the myenteric plexus and submucosal plexus are absent→ ganglion cells do not migrate down the colon so a section is not covered→ leads to constriction and bowel obstruction

Genetic Conditions Associated With Hirschsprung’s Disease

• Down’s syndrome

• Waardenburg syndrome (a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair)

• Neurofibromatosis type 1

• Multiple endocrine neoplasia type II

Presentation Of Hirschsprung’s Disease

It can present shortly after birth with acute intestinal obstruction, with:

• Absent meconium

• Abdominal distension

• Vomiting

• Delay in passing meconium (more than 24 hours)

• Chronic constipation (starting at birth)

• Poor weight gain and failure to thrive

Management Of Hirschsprung’s Disease

• Rectal biopsy to confirm diagnosis → absent ganglion cells

• Surgical removal of aganglionic section of bowe

Hirschsprung-Associated Enterocolitis

Inflammation of intestine. It presents with:

• Fever

• Abdominal distension

• Diarrhoea (often with blood)

• Features of sepsis

 

HAEC is life-threatening and can lead to toxic megacolon and perforation of the bowel. It requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel.