Congenital GI anomalies

Question 1

What is an Esophageal Atresia? what is it seen in a/w?

Answer 1

blind esophageal pouch w or w/o fistulous connection between proximal or distal esophagus and airway

a/w VACTERL syndrome
-vertebral, anorectal, cardiac, tracheoesophaeal fistula, renal/radial limb.

Question 2

What are signs of esophageal atresia?

Answer 2

Drooling, choking, vomiting w feeding, cyanosis, resp distress

Question 3

What are findings of Pure esophageal atresia?

Answer 3

Chest Xray shows gasless abdomen

Question 4

How is esophageal atresia Dx’d?

Answer 4

Early onset resp distress
**INABILITY to pass a nasogastric or orogastric tube
X-ray: absence of stomach bubble, coiled feeding tube in esophageal pouch

Question 5

What are characteristics and signs of pyloric stenosis?

Answer 5

First born males
NONBILIOUS projectile vomiting after 3 weeks of age
–leads to hypochloremia metabolic alkalosis
Dx: “Olive” pyloric mass
UGI series = string sign

Question 6

What is the cause and associations of Duodenal Atresia? What are physical findings?

Answer 6

Failed recanalization of small bowel during gestation
A/w with Down’s syndrome

Findings:
Early BILIOUS vomiting w/ prox stomach distention
Imaging: “DOUBLE-BUBBLE” sign = gas-filled somtach and proximal duodenum

Question 7

What is the cause of Meconium Ileus? what are Sx?

Answer 7

Distal small bowel obstruction
Infants with CYSTIC FIBROSIS (viscous meconium)

Sx: no stool passage after birth

Question 8

What syndrome is Malrotation a/w?

Answer 8

Kartagener Syndrome (ciliary dysmotility)
HETEROTAXY Syndrome - congenital heart malformation, malrotation, biliary atresia, asplenia, polysplenia

Question 9

What is Malrotation of GI?

Answer 9

duodenum, jejunum, ileum are on right side of abdomen

colon is on the left

Question 10

What kind of volvulus is more common in children?

Answer 10

Midgut volvulus

Question 11

What are Sx of Malrotation? How is Dx made?

Answer 11

Bilious emesis
Acute bowel obstruction - Volvulus

Upper GI series = malposition of Ligament of treitz, corkscrew appearance of the small bowel

Question 12

What developmental defect causes Omphalocele? What is the appearance?

Answer 12

failure of lateral fold closure

Herniation of abdominal contents into the base of umbilical cord - COVERED BY PERITONEUM

Question 13

What 2 congenital anomalies are associated with Omphaloceles?

Answer 13

BECKWITH-WIEDEMANN (omphalocele, macrosomia, hypoglycemia)

Trisomy 13 (patau), 18 (edwards)

Question 14

What developmental defect causes Gastroschisis? What is the appearance?

Answer 14

failure of lateral fold closure

UNCOVERED Viscera extrudes through a defect to the RIGHT of the abdominal wall

Question 15

What is the most common cause of lower bowel obstruction in neonates? What part of the bowel is most common?

Answer 15

Hirschprung Disease - Congenital aganglionic megacolon

Rectosigmoid - 80%

Question 16

What causes Hirschprung Disease? What is histologic appearance?

Answer 16

Failure of ganglion cell precursors to migrate from the neural crest to the anus during early developement

Histologically:
1. Absence of ganglion cells in the submucosal and myenteric plexus

2. Absence of Meissner’s and Auerbach’s plexuses

Question 17

What are genetic associations with Hirschprung’s Disease?

Answer 17

DOWN’s SYNDROME

RET gene mutations

Question 18

What is the gold standard Dx for Hirschprung’s disease

Answer 18

Rectal suction biopsy

Question 19

what is the embryological cause of Meckel’s Diverticulum?

Answer 19

Incomplete obliteration of Vitelline duct

-most common congenital anomaly of GI tract

Question 20

What is the Meckel’s Diverticulum Rule of 2’s?

Answer 20

2 feet proximal to the ileocecal valve
2 inches in length
2 types of epithelia (pancreatic or gastric)
2% of population
present before 2 yo
twice as common in Females

Question 21

What are symptoms of Meckel’s Diverticulum? (

Answer 21

1. Intermittent painless rectal bleeding
2. Currant Jelly stool
3. Scan after Pertechnetate IV infusion (taken up by mucus-secreting cells of the gastric mucosa)