17-1 -- Congenital Anomalies

Question 1

Many organs develop simultaneously, thus if there is a GI anomaly it should prompt?

Answer 1

Evaluation of other organs

Question 2

Atresia

Answer 2

Incomplete development

– Anus most common

Question 3

Esophageal Atresia involves the esophagus not fully developing. What will it create anatomically and cause?

Answer 3

• Creates a thin, noncanalized cord

= Mechanical obstruction

Question 4

Fistulas between the esophagus and trachea are common because they both develop from the foregut. What other defects will those with TE fistulas present with?

Answer 4

Cardiac defects

Question 5

Esophageal Stenosis

Answer 5

Lumen of the esophagus is decreased due to fibrous wall thickening

Question 6

Possible symptoms of Esophageal Stenosis?

Answer 6

Partial or complete obstruction

Question 7

How does a Diaphragmatic Hernia develop?

Answer 7

Incomplete formation of the diaphragm allows the abdominal viscera to herniate up into the thoracic cavity

Question 8

Diaphragmatic Hernias usually develop on which side?

Answer 8

Left side

Question 9

What main sign will be seen with Diaphragmatic Hernias?

Answer 9

Pulmonary Hypoplasia

Question 10

Omphalocele and Gastroschisis both involve herniation which direction?

Answer 10

Ventrally

Question 11

Omphalocele

Answer 11

Abdominal viscera and liver covered by amnion and peritoneum

Question 12

Gastroschisis

Answer 12

ALL layers of abdominal wall herniate

- usually intestine

Question 13

Abdominal viscera and liver fail to return to abdominal cavity – covered by amnion and peritoneum

Answer 13

Omphalocele

Question 14

ALL layers of abdominal wall herniate ventrally

Answer 14

Gastroschisis

Question 15

Gastroschisis is usually an ____ defect

Answer 15

Isolated

Question 16

Most common GI ectopic tissue issue?

Answer 16

Gastric mucosa in upper 1/3 of esophagus

Question 17

What can ectopic gastric mucosa cause in the upper esophagus?

Answer 17

Acid secretion

= GERD, dysphagia, Barrett’s Esophagus, Adenocarcinoma

Question 18

What can ectopic pancreatic tissue cause?

Answer 18

Damage and inflammation

Question 19

What can mimic invasive cancer?

Answer 19

Ectopic tissues

Question 20

Meckel Diverticulum

Answer 20

Blind outpouching of GI tract that communicates with lumen and all 3 bowel wall layers

Question 21

Most common site of Meckel Diverticulum?

Answer 21

Ileum

- Blind outpouching of GI tract that communicates with lumen

Question 22

What causes a Meckel Diverticulum?

Answer 22

Failed involution of vitelline duct

Question 23

Rule of 2’s is seen with?

Answer 23

Meckel Diverticulum
= Symptoms at 2 years old, 2X more males, 
2 feet above ileocecal junction
2 inches long
2% of population

Question 24

Rule of 2’s

Answer 24

• Symptoms at 2 years old
• 2X more common in males
• Within 2 feet of ileocecal junction
• 2 inches long
• 2% of population
  = Meckel Diverticulum

Question 25

What is often seen with Meckel Diverticulum?

Answer 25

Ectopic gastric or pancreatic tissue

Question 26

Symptoms of Meckel Diverticulum?

Answer 26

Peptic ulcers, bleeding, pain

Question 27

Pyloric Stenosis

Answer 27

Narrowing/hyperplasia of pylorus | = Food cannot leave stomach easily

Question 28

Risk factors for Pyloric Stenosis?

Answer 28

- Males, Monozygotic twins, Turner syndrome (45XO), Trisomy 18 - Exposure to erythromycin or azithromycin after birth

Question 29

Symptoms of Pyloric stenosis usually present when?

Answer 29

3-6 weeks of life

Question 30

Symptoms of Pyloric Stenosis?

Answer 30

- Regurgitation, projectile non-bilious vomiting - Demanding re-feeding - Firm, ovoid abdominal mass - Abnormal left to right peristalsis before vomiting

Question 31

Symptoms of Pyloric Stenosis?

Answer 31

- Regurgitation, projectile non-bilious vomiting - Demanding re-feeding - Firm, ovoid abdominal mass - Abnormal left to right peristalsis before vomiting

Question 32

Describe how Hirschsprung Disease arises

Answer 32

- NCC migration from cecum to rectum arrested prematurely - Distal intestinal segment lacks Meissner Submucosal Plexus AND Auerbach Myenteric Plexus = NO peristaltic contractions, (+) obstruction, Proximal dilation

Question 33

Hirschsprung Disease arises due to?

Answer 33

NCC migration from cecum to rectum arrested prematurely | = Aganglionosis

Question 34

With Hirschsprung Disease, what is always affected?

Answer 34

Rectum

Question 35

With Hirschsprung Disease, what innervations is the affected segment missing?

Answer 35

1. Meissner Submucosal Plexus | 2. Auerbach Myenteric Plexus

Question 36

Symptoms of Hirschsprung Disease?

Answer 36

NO peristaltic contractions (+) for obstruction = Proximal DILATION of bowel

Question 37

What loss of function mutations are seen with Hirschsprung Disease sometimes?

Answer 37

Mutations in Receptor Tyrosine Kinase, RET | - EDN

Question 38

Hirschsprung Disease has an association with?

Answer 38

Down Syndrome

Question 39

How does Hirschsprung Disease affected males/females?

Answer 39

Males more commonly affected | Females aganglionic segment is longer

Question 40

With Hirschsprung Disease, what is always affected?

Answer 40

Rectum