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 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 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 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 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 Most common cause of serious lower GI bleeding in children Meckel's diverticulum 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 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 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 Defect and symptoms of blue diaper syndrome isolated malabsorption of tryptophan 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 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 Absorption of these nutrients occurs mainly in the duodenum Iron Folate Calcium Absorption of these nutrients occurs mainly in the ileum Vit B12 bile salts 2 most common HLA types in celiac disease HLA DQ2 HLA DQ8 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 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 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 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 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