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Tracheo-esophageal Fistula demographics

1/3000 to 1/10000 live births; half to two-thirds have other associated anomalies (especially cardiac defects)


TE Fistula embryology/presentation

failure of normal separation of intestinal and respiratory tracts; most cases also have esophageal atresia

Prenatal: polyhydramnios
Postnatal: choking with feeds, inability to swallow oral secretions; H+P, passage of feeding tube into upper GI tract

Treatment: surgery


Most common TEF type?

esophageal atresia with a tracheoesophageal fistula


Infantile Hypertrophic Pyloric stenosis

Demographics: more common in male infants than females (4M:1F); overall about 1:1000 births

Hypertrophied pyloric sphincter for unknown reasons

Presentation: non-bilious, projectile vomiting (70%) associated with upper abdominal mass (60-80%); usually presents around 3 wks of life

Diagnosis: H+P; ultrasound

Treatment: surgery -- pyloromyotomy (make cut in thickened wall of pyloric stenosis)


Meckel Diverticulum

2% of pop, presents age 2, 2 cm from ileocecal junction ("rule of 2")

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

Histology: contains heterotopic gastric or pancreatic tissue in 50%

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

Diagnosis: Technetium-99 scan (detects gastric mucosa) or/and other imaging (US/CT)

Treatment: surgical resection



Demographics: 1/2000 live births; assoc with advanced maternal age; M:F 1.5:1

Embryology: failure of intestines to return to abdomen following physiologic herniation (intestine comes out into amniotic sac, partial rotations, returns to body) at wks 6-10 of development; ***peritoneal and amniotic covering

Associations: 30-50% associated with other congenital anomalies

Diagnosis: often prenatal (ultrasound)

Treatment: surgery -- return of contents to abdominal cavity and abdominal wall closure (may need to be staged/gradual procedure)


What can mimic omphalocele?

Gastroschisis -- ***paraumbilical (doesn't involve umbilical cord) abdominal wall defect (weak rectus muscle); no amniotic covering; no associated malformations


Intestinal Malrotation

Demographics: roughly 1/500 live births (one of the more common ones)

Embryology: abnormal rotation and fixation of intestinal tract
Can occur in isolation or complicate omphalocele, gastroschisis and other conditions

Normally SI and LI rotates counterclockwise around SMA

Presentation: most common -- midgut volvulus and obstruction (bilious vomiting)

Diagnosis: H+P; imaging; surgical exploration

Treatment: surgery


Gastrointestinal Duplications

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

Many found incidentally
May cause bowel obstruction

Diagnosis: H+P; imaging; surgical exploration

Treatment: surgery


Most common site of duplication

small intestine 44%



Intestinal Atresia

Demographics: incidence about 1/3000

Duodenal atresia most common; up to 40% have Down Syndrome***

Pathobiology: presumed vascular (ischemic) etiology

Presentation: Prenatal-- polyhydramnios (can't pass fluid thru GI tract), postnatal-- obstructive symptoms (bilious vomiting)

Diagnosis: H+P; imaging

Treatment: surgery


Imperforate anus/rectal agenesis

Demographics: incidence about 1/5000

Varying degrees of severity, frequently associated with fistula formation (perineum, bladder/urethra, vagina); up to ***50% associated with other anomalies

Diagnosis: PE
Treatment: surgery


Hirschsprung Disease

Demographics: 1 in 5000 live births; 4M:1F

Embryology: defect of enteric nervous system (ENS) development resulting in absence of ganglion cells (ENS neurons)

Presentation: failure to pass meconium/ poor stooling … if unrecognized, can progress to life-threatening megacolon (pressure buildup, could lead to rupture)

Diagnosis: H+P; imaging; biopsy (no ganglion cells)

Treatment: surgical resection of aganglionic segment

Complications: short bowel syndrome for long-segment disease

Enteric neurons start in mediastinum, then move and populate bowel wall proximal to distal. Might not make it to colon (Hirschsprung).


Gene involved in Hirschsprung?

RET gene (GDNF receptor)
found in 50% of HD cases


Neonatal Necrotizing Enterocolitis

Demographics: typically occurs as a complication of prematurity (up to 10% of infants


Reflux esophagitis (compare to allergic "eosinophilic" esophagitis)

Etiology: incompetent GE sphincter/ hiatal hernia

pH probe: positive

Mild intraepithelial eosinophilic infiltrate
Reactive epithelial changes
Predominantly distal esophageal involvement

Treatment: Acid blockade


Allergic esophagitis

Etiology: immunologic reaction to dietary allergen; incompletely understood

pH probe: negative

Marked intraepithelial eosinophilic infiltrate
Reactive epithelial changes
Frequent submucosal inflammation with fibrosis
Distal and proximal esophageal involvement

Dietary modification