congenital malformations of the GI system

Question 1

tracheoesophageal fistula and esophageal atresia clinical features

Answer 1

air in stomach
milk in lungs
polyhydraminos
vomiting

Question 2

defects associated with esophageal atresia or tracheaesophageal fistula

Answer 2

VATER or VACTERL

Question 3

narrowing of lumen of esophagus

Answer 3

congenital esophageal stenosis- usually mid esophagus

Question 4

when is esophageal tenosis diagnoses

Answer 4

by 2 years usually

Question 5

common presenting symptoms of esophageal stenosis

Answer 5

dysphagia, food impaction, respiratory symptoms

Question 6

what may be confused with esophageal stenosis

Answer 6

eosinophilic esophagitis

Question 7

double aortic arch can cause

Answer 7

vascular compression of esophagus

Question 8

double aortic arch is associated with

Answer 8

Digeorge syndrome

Question 9

aberrant right subclavian artery causes

Answer 9

compression of esophagus due to subclavian running behind esophagus

Question 10

aberrant right subclavian may be seen when

Answer 10

Down syndrome
reduced BP in right upper extremity

Question 11

achalasia is caused by

Answer 11

failure to relax the lower esophageal sphincter
disordered esophageal motility

Question 12

achalasia causes

Answer 12

progressive dysphagia, regurgitation, chest pain, weight loss
increased risk for esophageal squamous cell carcinoma

Question 13

diagnosis of achalasia

Answer 13

barium swallow “bird beak sign”

Question 14

treatment of achalasia

Answer 14

surgery or botulinum toxin injection

Question 15

what causes hypertrophic pyloric stenosis

Answer 15

when neural crest cells fail to migrate to pyloric muscle

Question 16

when do hypertrophic pyloric stenosis symptoms occur and what causes it

Answer 16

2-8 weeks after birth seen with nonbilious vomiting
higher incidence in infants treated with erythromycin

Question 17

causes of duodenal atresia

Answer 17

intrinsic- failed recanalization
extrinsic compression

Question 18

signs of duodenal atresia

Answer 18

bilious vomiting without abdominal distention
polyhydraminios
“double bubble sign”

Question 19

biliary atresia

Answer 19

obliteration of intrahepatic ducts or extra hepatic ducts due to failed recanalization

Question 20

symptoms of biliary atresia

Answer 20

progressive neonatal jaundice
white clay colored stool
dark urine
100% mortality

Question 21

patent accessory pancreatic duct

Answer 21

not an abnormality

Question 22

pancreatic divisum

Answer 22

patients prone to pancreatitis

Question 23

annular pancreas

Answer 23

duodenal obstruction or stenosis caused by pancreas wrapping around duodenum

Question 24

signs of annular pancreas

Answer 24

bilious vomiting if annulus is inferior to bile duct

Question 25

cystic fibrosis of the pancreas

Answer 25

inflamed pancreas due to digestive enzymes not being flushed from pancreatic duct

Question 26

severity of the CFTR mutations is graded by

Answer 26

their effect on the pancreas

Question 27

meconium ileum at birth is seen in what disorder

Answer 27

cystic fibrosis

Question 28

omphalocele will have

Answer 28

persistent herniation through umbilicus peritoneal covering trisomy 13 or 18 bowel encased within umbilicus, will appear relatively normal

Question 29

omphacele cause

Answer 29

failed lateral body folding or inability of body wall to form normally

Question 30

gastroschisis

Answer 30

midgut herniated through abdominal wall no peritoneal covering no known chromosomal abnormalities

Question 31

cause of gastroschisis

Answer 31

premature recession of right umbilical vein

Question 32

signs of gastroschisis

Answer 32

second or third trimester ultrasound and elevated alpha-fetoprotein

Question 33

umbilical hernia

Answer 33

segment of midgut herniated through umbilicus - skin covers herniation

Question 34

meckels diverticulum

Answer 34

persistence of vitelline duct

Question 35

problems caused by meckels diverticulum

Answer 35

risk of volvulus risk of intussusception

Question 36

rule of 2s for mockers diverticulum

Answer 36

2% of incidence 2 times more common in. males 2 percent of symptoms 2 years of age 2 inches long

Question 37

non rotation of midgut loop

Answer 37

2nd and 3rd rotations fail to occur (retraction phase)

Question 38

non rotation of midgut loop causes

Answer 38

left sided colon and increased risk of volvulus

Question 39

reversed rotation of midgut loop

Answer 39

only second and 3rd rotations are reversed transverse colon is secondarily retroperitoneal duodenum can dress against transverse colon and cause blockage

Question 40

volvulus causes

Answer 40

malrotation of gut ladd's bands

Question 41

effects of volvulus

Answer 41

intestinal ischemia or necrotic or ischemic bowel vomiting, GI bleed, acute abdominal pain

Question 42

intestinal atresia or stenosis

Answer 42

due to failed recanalization of midgut or vascular accidents (section does not get enough perfusion)

Question 43

sources of diaphragm

Answer 43

septum transversum pleuroperitoneal membrane mesoderm of body wall esophageal mesenchyme

Question 44

congenital diaphragmatic hernia is seen where

Answer 44

commonly on left side

Question 45

types of congenital diaphragmatic hernias

Answer 45

bochdalek hernias: worse hernias Morgan hernias: less common

Question 46

effects of congenital diaphragmatic hernia

Answer 46

pulmonary hypoplasia

Question 47

intussusception causes

Answer 47

most commonly idiopathic in children: lymphoid hyperplasia in adults: tumors are the most common

Question 48

common cause of bowel obstruction in children under 2

Answer 48

intussusception

Question 49

abnormal formation of the urogenital septum

Answer 49

fistula causing incomplete separation of urogenital sinus and anorectal canal

Question 50

imperforate anus

Answer 50

persistent anal membrane commonly seen in VACTERL and Down syndrome and fistula

Question 51

classifications of imperforate anus

Answer 51

low, intermediate, high

Question 52

Hirschsprungs disease

Answer 52

absence of ganglionic plexus due to absence of caudal migration of vagal neural crest cells (primary) - colonic distention (megacolon) associated with trisomy 21