1. 3 most common types of tracheoesophageal fistulae in order
    • Blind esoph. pouch with fistula betwee distal trachea and esophagus (90%)
    • 2 blind esoph. pouches with no fistula
    • H-type
  2. Incidence of other anomalies in children with TEF
    Associate anomalies
    • 1/3
    • Vertebral
    • Anal atresia
    • Cardiac (PDA, ASD, VSD)
    • TEf
    • Renal (urethral atresia w/ hydronephrosis)
    • Limb anomalies
  3. Average age of onset of achalasia in children
    • 9 years
    • infancy or early childhood presentations suggests congenital disorder
    • only 5% of achalasia presents in childhood
  4. What is Menetrier disease
    • protein losing gastropathy, almost always due to CMV infection
    • EGD shows tortuous pits and swollen lamina propria
    • Bx shows increased Eos and round cells in lamina propria
  5. Anomalies associated with duodenal atresia
    Anomalies associated with jejunoileal atresia
    • Cardiac
    • GU
    • Anorectal
    • Esophageal
    • 40% of pts with duodenal atresia have trisomy 21
    • jejunoileal atresia is not associated with other anomalies
  6. Most common cause of serious lower GI bleeding in children
    Meckel's diverticulum
  7. Sensitivity and specificity of Meckel scan
    • 85% sensitive
    • 95% specific
  8. Most reliable test for lactase deficiency
    • breath hydrogen test
    • colonic bacteria produce hydrogen gas, in face of malabsorbed carbohydrate, which is absorbed and exhaled
  9. Defect and symptoms of Abetalipoproteinemia
    • Autosomal recessive
    • congenital abscence of Apo B
    • inability to synthesize chylomicrons
    • steatorrhea and FTT
    • Fat soluble vitamins not absorbed so night blindness, sensory ataxia, nystagmus
    • retinitis pigmentosa
    • acanthocytosis
    • low cholesterol and trigs
  10. Defect and symptoms of chylomicron retention disease (Anderson Disease)
    • auto-recessive
    • defective exocytosis of chylomicrons
    • steatorrhea, FTT, low cholesterol
  11. Defect and symptoms of Hartnup disease
    • defect in transport of free neutral AAs
    • decifiency in nicotinamide (made from tryptophan)
    • pellagra-like symptoms
  12. Defect and symptoms of blue diaper syndrome
    isolated malabsorption of tryptophan
  13. Defect and symptoms of Lowe syndrome
    • malabsorption of lysine and arginine
    • mental retardation, cataracts, hypotonia, VitD-resistent rickets
  14. Defect and symptoms of congenital chloride diarrhea
    • defective Cl-/HCO3- exchange transport system in ileum and colon
    • watery, high chloride, low pH diarrhea
    • resolves by age 3-4
  15. Defect and symptoms of congenital sodium diarrhea
    • defective Na+/H+ exchange transport system
    • watery, high Na, alkaline diarrhea
  16. Defect and symptoms of acrodermatitis enteropathica
    • Abnormal Zn absorption (or just Zn deficiency)
    • Auto-recessive 8q24.3
    • bullous, pustular dermatits
    • alopecia, blepharitis, conjunctivitis, diarrhea, FTT
    • doesn't show up while breast feeding (breast milk contains Zn binding factor)
    • Rx: elemental An 35-100mg/day
  17. Absorption of these nutrients occurs mainly in the duodenum
    • Iron
    • Folate
    • Calcium
  18. Absorption of these nutrients occurs mainly in the ileum
    • Vit B12
    • bile salts
  19. 2 most common HLA types in celiac disease
    • HLA DQ2
    • HLA DQ8
  20. Autoimmune disorders commonly co-exist with celiac disease. Children with shich autoimmune disorders should be screened for celiac disease?
    • type 1 DM
    • selective IgA deficiency
    • Aslo note, celiac disease 50x more common in Trisomy 21
  21. rash seen in celiac dz with/without GI symptoms,
    itchy, bullous lesions on extensor surfaces, scalp, trunk
    Dermatitis herpetiformis
  22. How do you test for celiac disease?
    • IgG and IgA antigliadin (older, less accurate, included in order to catch those with IgA deficiency)
    • IgA anti-endomysium
    • IgA antibody to tissue transglutaminase (anti-TTG)
    • gold stardard is EGD with duodenal Bx and remission after removal of gluten from diet
    • can follow anti-endomysium and anti-TTG levels to ensure gluten is effectively removed from diet
  23. Name and describe the most common cause of congenital diarrhea
    • Congenital microvillous inclusion disease (Davidson Dz)
    • auto-recessive
    • diffuse thinning of mucosal on small intestinal villi
    • no inflammatory cell reaction
    • EM shows microvilli in involutions of apical membrane
    • 80% mortality
    • Rx is TPN or small bowel transplant
  24. characteristics and etiology of Whipple disease
    • Gram pos actinomycete called Tropheryma whippelii
    • multi-system disease with severe malabsorption
    • Also arthritis, polyserositis, CNS symptoms, fever
    • PAS-positive granules in lamina propria
    • Abx for 6mo+ to cure
  25. pentology of Cantrell
    • AKA thoracoabdominal syndrome
    • omphalocele
    • anterior diaphragmatic hernia
    • sternal cleft
    • ectopic cordis
    • intracardiac defect (VSD or left ventricular diverticulum)
  26. Lower midline syndrome
    • Vesiculointestinal fistula
    • Imperforate anus
    • Colonic agenesis
    • Bladder extrophy
    • Omphalocele
  27. Congenital anomalies associated with omphalocele
    • penology of Cantrell
    • lowe midline syndrome
    • Bechwith-Weidemann syndrome
    • Trisomies
  28. Children with this syndrome have a much higher incidence of imperforate anus
    Down's Syndrome
  29. 3 most common causes of rectal prolapse
    • 1: constipation
    • 2: diarrhea
    • 3: cystic fibrosis
    • others with neuromotor disorders
    • 20% with no identifiable cause
  30. pathogenesis/etiology of Hirshsprung Disease
    • AKA congenital aganglionic megacolon
    • abscense of enteric ganglionic neurons beginning at anus and extending proximally
    • failure of craniocaudal migration of neural crest cells
    • histologically, abscense of Meissner and Auerbach plexus and hypertrophied nerve bundles
    • aganglionic segment, internal sphincter, and anal canal remain constantly contracted
  31. After how long without passing stool should a newborn be evaluated for Hirschsprung Disease?
    • 48 hours
    • in normal newborns 90% pass stool w/in 24 hrs, 99% pass stool w/in 48hrs
    • 94% of neonates with Hirschsprung fail to pass stool at 24 hrs
  32. What is Shwachman-Diamond Syndrome
    • 2nd most common cause of exocrine pancreatic insufficiency in children (less severe that CF and 50% have improvement with time)
    • auto-recessive
    • acinar cell hypoplasia
    • associated with short stature, intemittent/persistent neutropenia, skeletal abnormalities
    • 1/3 of affected boys will develop myeloproliferative disorders
  33. Etiologies of acute pancreatitis in children
    • blunt trauma
    • mumps
    • other viruses
    • multisystem diseases
    • congenital anomalies
    • biliary microlithiasis
    • HIV meds
    • HUS
    • Kawasaki Dz
    • BMT
    • head trauma
    • alcohol
  34. What is hereditary pancreatitis?
    • most common cause of chronic pancreatitis in children
    • auto-dom with incomplete penetrance
    • 80% present before 20 (mean age 11)
    • various genetic causes
    • +Fhx of pancreatitis
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selected Peds GI