Pediatric Gastrointestinal Diseases and Developmental Defects

Question 1

Trecheo-esophageal fistula occurs in 1/3000 to 1/10000 live births; half to two-thirds have other associated anomalies (especially _______)

Answer 1

cardiac defects

Question 2

what is a prenatal presentation of Tracheo-esophatgeal fistula

Answer 2

Polyhydramnios (excess of amniotic fluid in the amniotic sac).

Question 3

what is a Meckel Diverticulum

Answer 3

abnormal remnant of vitelline (omphalomesenteric) duct (connection between yolk sac and intestine)

Question 4

what is the most common malformation of the small intestine

Answer 4

Meckel Diverticulum

Question 5

what is the clinical presentation of Meckel Diverticulum

Answer 5

Obstruction 35% (most common in neonates)
Bleeding 40% (usually older children)
Inflammation 17%

Question 6

During Embryology: failure of intestines to return to abdomen following physiologic herniation at wks 6-10 of development; peritoneal and amniotic covering.
what is this called?

Answer 6

Omphalocele

Question 7

this congenital disease is due to paraumbilical abdominal wall defect (rectus muscle); where the intestines are on the outside and there is no amniotic covering.

Answer 7

Gastroschisis

Question 8

_________ occurs in roughly 1/500 live births.
Embryology: abnormal rotation and fixation of intestinal tract
Can occur in isolation or complicate omphalocele, gastroschisis and other conditions

Answer 8

Intestinal Malrotation

Question 9

what is the presentation of Intestinal malrotation

Answer 9

midgut volvulus and obstruction (bilious vomiting)

Question 10

Embryology abnormality with Saccular (cystic) or tubular structures containing all layers of normal bowel wall and gastrointestinal lining, which may or may not communicate with bowel.

Answer 10

Gastrointestinal Duplications

Question 11

what is the most frequent site of GI duplications

Answer 11

Small intestine

Question 12

Intestinal atresia has an incidence of about _______ with ______ atresia most common; up to 40% have ________

Answer 12

1/3000,
Duodenal,
Down Syndrome

Question 13

Imperforate anus/rectal agenesis occurs in 1/5000 births and is associated with

Answer 13

fistula formation (perineum, bladder/urethra, vagina

Question 14

this disease consists of a defect of enteric nervous system (ENS) development resulting in absence of ganglion cells (ENS neurons)

Answer 14

Hirschsprung Disease

Question 15

what is the presentation of Hirschsprung Disease

Answer 15

failure to pass meconium (earliest stool of a mammalian infant) / poor stooling … if unrecognized, can progress to life-threatening megacolon

Question 16

what is the pathogenesis of Neonatal Necrotizing Enterocolitis

Answer 16

Multifactorial: 
Might be caused by onset of Enteric feeds; 
Defect of bacterial flora; 
immune immaturity; 
bowel hypoperfusion/ischemia

Question 17

what are risk factors for Neonatal Necrotizing Enterocolitis

Answer 17

patent ductus arteriosus,

complications from prematurity

Question 18

what is the presentation of Neonatal Necrotizing Enterocolitis

Answer 18

feeding intolerance, abdominal distention, bloody stools