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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
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Incidence of other anomalies in children with TEF
Associate anomalies
- 1/3
- VACTERL
- Vertebral
- Anal atresia
- Cardiac (PDA, ASD, VSD)
- TEf
- Renal (urethral atresia w/ hydronephrosis)
- Limb anomalies
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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
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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
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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
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Most common cause of serious lower GI bleeding in children
Meckel's diverticulum
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Sensitivity and specificity of Meckel scan
- 85% sensitive
- 95% specific
-
Most reliable test for lactase deficiency
- breath hydrogen test
- colonic bacteria produce hydrogen gas, in face of malabsorbed carbohydrate, which is absorbed and exhaled
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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
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Defect and symptoms of chylomicron retention disease (Anderson Disease)
- auto-recessive
- defective exocytosis of chylomicrons
- steatorrhea, FTT, low cholesterol
-
Defect and symptoms of Hartnup disease
- defect in transport of free neutral AAs
- decifiency in nicotinamide (made from tryptophan)
- pellagra-like symptoms
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Defect and symptoms of blue diaper syndrome
isolated malabsorption of tryptophan
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Defect and symptoms of Lowe syndrome
- malabsorption of lysine and arginine
- mental retardation, cataracts, hypotonia, VitD-resistent rickets
-
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
-
Defect and symptoms of congenital sodium diarrhea
- defective Na+/H+ exchange transport system
- watery, high Na, alkaline diarrhea
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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
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Absorption of these nutrients occurs mainly in the duodenum
-
Absorption of these nutrients occurs mainly in the ileum
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2 most common HLA types in celiac disease
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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
-
rash seen in celiac dz with/without GI symptoms,
itchy, bullous lesions on extensor surfaces, scalp, trunk
Dermatitis herpetiformis
-
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
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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
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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
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pentology of Cantrell
- AKA thoracoabdominal syndrome
- omphalocele
- anterior diaphragmatic hernia
- sternal cleft
- ectopic cordis
- intracardiac defect (VSD or left ventricular diverticulum)
-
Lower midline syndrome
- Vesiculointestinal fistula
- Imperforate anus
- Colonic agenesis
- Bladder extrophy
- Omphalocele
-
Congenital anomalies associated with omphalocele
- penology of Cantrell
- lowe midline syndrome
- Bechwith-Weidemann syndrome
- Trisomies
-
Children with this syndrome have a much higher incidence of imperforate anus
Down's Syndrome
-
3 most common causes of rectal prolapse
- 1: constipation
- 2: diarrhea
- 3: cystic fibrosis
- others with neuromotor disorders
- 20% with no identifiable cause
-
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
-
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
-
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
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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
-
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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