Congenital GI anomalies Flashcards
What is an Esophageal Atresia? what is it seen in a/w?
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.
What are signs of esophageal atresia?
Drooling, choking, vomiting w feeding, cyanosis, resp distress
What are findings of Pure esophageal atresia?
Chest Xray shows gasless abdomen
How is esophageal atresia Dx’d?
Early onset resp distress
**INABILITY to pass a nasogastric or orogastric tube
X-ray: absence of stomach bubble, coiled feeding tube in esophageal pouch
What are characteristics and signs of pyloric stenosis?
First born males
NONBILIOUS projectile vomiting after 3 weeks of age
–leads to hypochloremia metabolic alkalosis
Dx: “Olive” pyloric mass
UGI series = string sign
What is the cause and associations of Duodenal Atresia? What are physical findings?
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
What is the cause of Meconium Ileus? what are Sx?
Distal small bowel obstruction
Infants with CYSTIC FIBROSIS (viscous meconium)
Sx: no stool passage after birth
What syndrome is Malrotation a/w?
Kartagener Syndrome (ciliary dysmotility) HETEROTAXY Syndrome - congenital heart malformation, malrotation, biliary atresia, asplenia, polysplenia
What is Malrotation of GI?
duodenum, jejunum, ileum are on right side of abdomen
colon is on the left
What kind of volvulus is more common in children?
Midgut volvulus
What are Sx of Malrotation? How is Dx made?
Bilious emesis
Acute bowel obstruction - Volvulus
Upper GI series = malposition of Ligament of treitz, corkscrew appearance of the small bowel
What developmental defect causes Omphalocele? What is the appearance?
failure of lateral fold closure
Herniation of abdominal contents into the base of umbilical cord - COVERED BY PERITONEUM
What 2 congenital anomalies are associated with Omphaloceles?
BECKWITH-WIEDEMANN (omphalocele, macrosomia, hypoglycemia)
Trisomy 13 (patau), 18 (edwards)
What developmental defect causes Gastroschisis? What is the appearance?
failure of lateral fold closure
UNCOVERED Viscera extrudes through a defect to the RIGHT of the abdominal wall
What is the most common cause of lower bowel obstruction in neonates? What part of the bowel is most common?
Hirschprung Disease - Congenital aganglionic megacolon
Rectosigmoid - 80%
What causes Hirschprung Disease? What is histologic appearance?
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
- Absence of Meissner’s and Auerbach’s plexuses
What are genetic associations with Hirschprung’s Disease?
DOWN’s SYNDROME
RET gene mutations
What is the gold standard Dx for Hirschprung’s disease
Rectal suction biopsy
what is the embryological cause of Meckel’s Diverticulum?
Incomplete obliteration of Vitelline duct
-most common congenital anomaly of GI tract
What is the Meckel’s Diverticulum Rule of 2’s?
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
What are symptoms of Meckel’s Diverticulum? (
- Intermittent painless rectal bleeding
- Currant Jelly stool
- Scan after Pertechnetate IV infusion (taken up by mucus-secreting cells of the gastric mucosa)
