Path - Congenital Anomalies

Question 1

cause of meckel’s diverticulum

Answer 1

persistence of vitelline duct which connects yolk sac and gut lumen

Question 2

effects of ectopic pancreatic tissue in pylorus

Answer 2

inflammation and scarring may lead to obstruction

Question 3

pyloric stenosis

Answer 3

hyperplasia of pyloric muscularis propria –> stenosis of pylorus –> obstructing the outflow tract –> regurgitation

Question 4

onset of sx for pyloric stenosis

Answer 4

36 weeks past birth

Question 5

compare emesis b/w hirschsprung disease and pyloric stenosis

Answer 5

hirschsprung disease: bilious

pyloric stenosis: nonbilious

Question 6

genetic defect associated with hirschsprung disease

Answer 6

down’s

Question 7

heterozygous mutation in RET gene

Answer 7

hirschsprung disease

Question 8

demographic pyloric stenosis

Answer 8

• 4x more likely in males
• turner’s syndrome and edward’s syndrome
• monozygotic twins

Question 9

effects of gastric heterotopia (small patches of ectopic gastric mucosa in small bowel or colon)

Answer 9

may present with occult blood loss due to peptic ulceration of adjacent mucosa

Question 10

clinical effects of ectopic gastric mucosa in upper 1/3 esophagus

Answer 10

generally asymptomatic, but acid released by gastric mucosa within the esophagus can cause dysphagia, esophagitis, Barrett esophagus, or adenocarcinoma

Question 11

second most common type of ectopia in GI tract

Answer 11

ectopic pancreatic tissue in the esophagus or stomach

Question 12

persistence of vitelline duct which connects yolk sac and gut lumen

Answer 12

meckel’s diverticulum

Question 13

• regurgitation
• projectile, forceful, NONbilious vomiting after feeding
• firm, ovoid mass in abdomen

Answer 13

pyloric stenosis

Question 14

incomplete abdominal musculature allowing viscera to herniate into ventral membranous sac

Answer 14

omphalocele

Question 15

effects of ectopic pancreatic tissue in esophagus or stomach

Answer 15

most often asymptomatic, but can produce damage and local inflammation

Question 16

blind pouch leading off alimentary tract consisting of all three layers of the bowel wall

Answer 16

meckel’s diverticulum

Question 17

most frequent site of ectopia in the GI tract

Answer 17

upper 1/3 esophagus (inlet patch)

Question 18

incomplete formation of the diaphragm allowing cephalad diplacement of abdominal viscera into lung area

Answer 18

diaphragmatic hernia

Question 19

infant with failure to pass meconium

Answer 19

hirschsprung disease

Question 20

congenital aganglionic megacolon

Answer 20

hirschsprung disease

Question 21

because many organs develop during embryogenesis, the presence of any kind of GI disorder shoulder prompt ______

Answer 21

immediate evaluation of other organs

Question 22

rule of 2’s for meckel’s diverticulum

Answer 22

• 2% of population
• occurs w/in 2 ft of ileocecal valve
• 2 types: gastric and pancreatic
• 2 in long
• 2x more common in males
• symptomatic by age 2

Question 23

cause of hirschsprung disease

Answer 23

arrested migration of neural crest cells into gut –> part of gut w/o meissner submucosal plexus or auerbach myenteric plexus

Question 24

genetic defects associated with pyloric stenosis

Answer 24

Turner’s

Edward’s (trisomy 18)

Question 25

where do esophageal atresias normally occur

Answer 25

at the bifurcation of trachea

Question 26

all layers of abdominal wall fail to develop from the peritoneum to the skin

Answer 26

gastrischisis

Question 27

2 most common types of esophageal atresia

Answer 27

1) atresia with distal fistula (blind upper segment with fistula connecting segment to trachea) 2) thin, noncanalized cord replaces a segment of the structure creating a mechanical obstruction

Question 28

how does meckel's diverticulum appear like appendicitis

Answer 28

acid secretion from ectopic gastric tissue from Meckel's can cause ulceration of adjacent mucosa leading to abd pain that looks like appendicitis