Hirschsprung's disease Flashcards
What is Hirschsprung’s disease
Congenital condition where nerve cells of the myeteric plexus are absent in the distal bowel and rectum
What is the total colonic aganglionosis
When the entire colon is affected so there is no nervous innervation
Associations with Hirschsprung’s disease
Usually occurs in isolation, but has been associated with Down’s, neurofibromatosis, Waardenburg syndrome and MEN type 2
Presentation of Hirschsprung’s disease
Acute intestinal obstruction after birth or more gradually developing symptoms. Delay in passing meconium, chronic constipation since birth, abdo pain and distension, vomiting, poor weight gain and failing to thrive
What is Hirschsprungs associated enterocolitis
Inflammation and obstruction of the intestine occuring in around 20% of neonates with the disease.
What does Hirschsprung’s associated enterocolitis present with
Within 2-4 weeks of birth with fever, abdo distension, diarrhoea, and features of sepsis
What can Hirschsprungs associated colitis lead to
Toxic megacolon, perforation requiring Abx, fluid resus and decompression of the obstructed bowel
Diagnosis of Hirschsprungs disease
Abdo XR for diagnosis and features, rectal biopsy to confirm
Management of Hirschsprungs disease
Surgical removal of aganglionic section of bowel