Pediatric Gi disease Flashcards
Tracheo-esophageal (TE) Fistula: Embryology, presentation/diagnosis, treatment, what else can they be associated with?
Can be associated with cardiac defects
Embryology: failure of normal separation of intestinal and respiratory tracts; most cases also have esophageal atresia
Presentation/Diagnosis:
Prenatal: polyhydramnios (too much amniotic fluid)
Postnatal: choking with feeds, inability to swallow oral secretions; H+P, passage of feeding tube into upper GI tract
Treatment: surgery
What’s most common type of tracheo-esophageal fistula?
With esophageal atresia
Infantile Hypertrophic Pyloric Stenosis (pyloric stenosis): demographics, presentation, diagnosis, and treatment
Demographics: more common in male infants than females (4M:1F); overall about 1:1000 births
Presentation: non-bilious, projectile vomiting (70%) associated with upper abdominal mass (60-80%); usually presents around 3 wks of life
Diagnosis: Hx and Physical; ultrasound
Treatment: surgery – pyloromyotomy
Meckel Diverticulum: Demographics, embryology, histology, presentation, diagnosis, treatment
“Rules of two”: 2 cm from ileocecal junction, 2 years old, 2% of pop
Demographics: most common malformation of the small intestine – 2% of population
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
Omphalocele: Demographics, embryology, associations with other abnormalities, diagnosis, and treatment
Demographics: 1/2000 live births; associated with advanced maternal age; male:female ratio of 1.5:1
Embryology: failure of intestines to return to abdomen following physiologic herniation 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)
Intestinal Malrotation: Demogrpahics, presentation, diagnosis, treatment
Demographics: roughly 1/500 live births
Embryology: abnormal rotation and fixation of intestinal tract
Can occur in isolation or complicate omphalocele, gastroschisis and other conditions
Presentation: most common – midgut volvulus and obstruction (bilious vomiting)
Diagnosis: Hx and Physical; imaging; surgical exploration
Treatment: surgery
Gastroschisis
Easy to get mixed up with omphalocele
Paraumbilical abdominal wall defect (rectus muscle); no amniotic covering; no associated malformations
Due to weakness of muscle wall
Gastrointestinal Duplications: embryology, presentation, diagnosis
Embryology: Saccular (cystic) or tubular structures containing all layers of normal bowel wall and gastrointestinal lining, which may or may not communicate with bowel
Presentation:
Many found incidentally
May cause bowel obstruction
Diagnosis: H+P; imaging; surgical exploration
Treatment: surgery
Small intestine is most frequent site
Intestinal atresia: demographics, pathobiology, presentation, diagnosis, treatment
Demographics: incidence about 1/3000
Duodenal atresia most common; up to 40% have Down Syndrome
Pathobiology: presumed vascular (ischemic) etiology
Presentation: polyhydramnios, obstructive symptoms (bilious vomiting)
Diagnosis: H+P; imaging
Treatment: surgery
Imperforate anus/rectal agenesis: demographics, diagnosis, treatment
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, embryology, presentation, diagnosis, treatment, complications
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
Diagnosis: H+P; imaging; biopsy (no ganglion cells)
Treatment: surgical resection of aganglionic segment
Complications: short bowel syndrome for long-segment disease
Mutations in RET gene found in 50% of cases
Enteric neurons don’t migrate all the way to colon
Neonatal Necrotizing Enterocolitis: demographics, presentations, pathogenesis, treatment, complications
Demographics: typically occurs as a complication of prematurity (up to 10% of infants
Reflux vs allergic (“eosinophilic”) esophagitis
Reflux esophagitis:
Etiology: incompetent GE sphincter/ hiatal hernia
pH probe: positive
Histology: 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
Histology: Marked intraepithelial eosinophilic infiltrate; Reactive epithelial changes; Frequent submucosal inflammation with fibrosis
Distal and proximal esophageal involvement
Treatment: Dietary modification, Steroids
