Ch 17 Congenital abnormalities

Question 1

If you have a patient with a GI congenital disorder, what should be running through your mind?

Answer 1

Evaluation for other congenital abnormalities of other organs

Question 2

Where does esophageal atresia most commonly occur? What is this associated with?

Answer 2

Near the tracheal bifurcation and is usually assoc. with a fistula connecting upper or lower esophageal pouches to bronchus or trachea

Question 3

What are possible complications of a fistula?

Answer 3

Aspiration Pneumonia Suffocation Severe fluid & electrolyte imbalances

Question 4

Developmental abnormalities of the esophagus are associated with ___, ___, and ____.

Answer 4

Developmental abnormalities of the esophagus are associated with congenital heart defects, GI malformations, and neurologic disease.

Question 5

Is intestianl or esophageal atreasia more common?

Answer 5

Esophageal

Question 6

What is the most common form of congenital intestinal atresia?

Answer 6

• imperforate anus due to failiure of cloacal diaphragm to involute

Question 7

How does a diaphragmatic hernia occur?

Answer 7

• incomplete formation of diaphgram allows the abdominal viscera to herniate into the thoracic cavity

Question 8

Omphalocele occurs when ______.

Answer 8

• closure of the abdominal musculature is incocmplete and the abdominal viscera herniate into ventral membranous sac

Question 9

What is gastroschisis?

Answer 9

• similar to omphalocele except it involves all layers of abdominal wall from peritoneum to skin

Question 10

Where are ectopic tissues common in the body?

Answer 10

GI tract

Question 11

Where is the most frequent site of ectopic gastric mucosa?

Answer 11

• upper third of esophagus and it is called inlet patch

Question 12

What is a gastric heterotopia? How does it present?

Answer 12

• small patches of ectopic gastric mucosa in the small bowel or colonn and can present with occult blood loss due to peptic ulceration

Question 13

What is a true diverticulum?

Answer 13

• blind outpouching of the alimentary tract that communicates with the lumen and includes all three layers of the bowel

Question 14

What is the most common true diverticulum and where does it occur?

Answer 14

• Meckel diverticulum and it occurs in the ileum

Question 15

What duct fails to involute in meckels diverticulum?

Answer 15

Vitelline duct which connects lumen of the developing gut to the yolk sac

Question 16

What occurs in 2% of the population, present within 2 feet of the ileocecal valce, twice as common in males than females, and are symptomatic by age 2?

Answer 16

Meckel’s diverticulum

Question 17

Who is congenital hypertrophic pyloric stenosis more common in?

Answer 17

• Males and monozygotic twins

Question 18

What two genetic disorders have an increased risk of congenital hypertrophic pyloric stenosis?

Answer 18

• Trisomy 18
• Turner syndrome

Question 19

What has been linked to increased incidence of hypertrophic pyloric stenosis?

Answer 19

• Erythromycin or azithromycin exposure first 2 weeks of life orally or through breast milk

Question 20

A mother brings her 4 week old infant to the pediatrician complaining of the infant spitting up a lot more than normal after feedings, as well as projectile vomiting. She says he seems hungry often, and has these reactions after eating.

What is going on?

What physical finding can indicate this?

What is the treatment?

Answer 20

• Congenital hypertrophic pyloric stenosis
• 1-2 cm abdominal mass (olive like)
• Myotomy (surgical splitting of muscularis)

Question 21

How do adults get pyloric stenosis?

Answer 21

• as a result of having antral gastritis or peptic ulcers near the pylorus

Question 22

10% of all Hirschsprung cases occur in patients with ___.

Answer 22

10% of all Hirschsprung cases occur in patients with down syndrome

Question 23

What genetic defect causes Hirschprung’s disease?

Answer 23

LOF of the receptor tyrosine kinase RET

Question 24

What leads to the “mega” part of Hirschprung disease?

Answer 24

• The normally innervated proximal parts of the colon dilate to accomodate the lack of movement in the aganglionic part
• This can lead to rupturing
  
  • commonly near cecum

Question 25

What does a failure to mass meconium indicate? What follows?

Answer 25

• Hirschprung disease
• Followed byobstruction or constipation with visible ineffective peristalisis
• Progresses to abdominal distension and bilious vomiting

Question 26

What are the major complications with hirschprung disease?

Answer 26

• enterocolitis
• fluid and electrolyte issues
• perforation
• peritonitis

Question 27

Treatmetn for Hirschprung?

Answer 27

• removal of the aganglionic ssegment folllowed by anastamosis of normal colon to rectum