GI Malformations

Question 1

Hirschsprung’s Disease

• What is it?
• Where does it usually effect?
• When is it usually diagnosed?

Answer 1

Congenital abscence of ganglion cells in the myenteric and submucosal plexus.
Abscence of parasympathetic action leads to bowel obstruction

Usually affects the rectosignmoid but can be whle colon

Usually <1 yr

Question 2

Hirschprung’s Disease

• S+S
• Complication and what it can lead to?
• Investigations? - 1st and 2nd line and what can be used to confirm diagnosis

Answer 2

Abdominal distention
Delayed meconium passage
Chronic constipation and occasionally overflow diarrhoea
Vomiting which may be bilious

Enterocolitis - leads to explosive diarrhoea and sepsis

Barium enema - X-ray will show dilated proximal colon and contracted distal colon
Plain AXR - shows dilated colon
Rectal biopsy confirms diagnosis

Question 3

Hirschprung’s Disease

-Management

Answer 3

Surgical removal of aganglionic bowel segment
Preceded by bowel irrigation to clear it out and reduce distention.
Tube place in rectum, saline enters, then exits through tube with bowel contents.
Differs from enema in which fluid is retained
Fluid and antibiotics first in enterocolitis.

Question 4

Intussesception

• What is it?
• When?
• What is it linked to?

Answer 4

Telescoping of the bowel usually of ileum into cecum - LOOK UP PIC

6-36 months

Infection leading to Peyer’s patch hypertrophy

Question 5

Intussesception

• S+S
• Imaging used to diagnose and sign you would see?
• M

Answer 5

Episodic, severe colicky pain and pallor, with knees drawn up.
Sausage-shaped mass in abdomen and/or abdominal distention.
Redcurrant jelly stool (blood stained). A late sign, suggesting bowel ischaemia has occurred.
Bile-stained vomit.
Shock

USS - Doughnut sign

US-guided air enema infufflation
Surgery in 25%

Question 6

What is oesophageal atresia + tracheo-oesophageal fistula?

PS. IT IS WHAT IT SAYS

Answer 6

TE fistula often happens with another birth defect called esophageal atresia. This means your baby’s esophagus doesn’t form well during pregnancy. It forms in 2 parts instead of 1. One part connects to the throat. The other part connects to the stomach. But the 2 parts don’t connect to each other.

Tracheoesophageal fistula is a connection between the esophagus and the trachea.

Question 7

Congenital diaphragmatic hernia (CDH)

• What is it?
• What can it lead to?

Answer 7

A developmental defect in the diaphragm alllowing herniation of abdominal contents into the chest

Impaired lung development

Question 8

Inguinal hernias - what causes it?

Answer 8

Patent processus vaginalis (the passage which ushers the descending testicle into the scrotum).

Question 9

Hydroceles infancy - what is it? Rx?

Answer 9

A processus vaginalis patent at birth and wllowing only fluid from the peritoneal cavity to pass down into it

Usually closes during the first year so no need to intervention.

Question 10

What other GI defects could you have? - 3

Answer 10

Imperforate anus
Mid-gut malformations
Anterior abdominal wall defects