A 4 mo old boy with short gut from extensive small bowel resection at 2 wks of life is receiving amino acids, hypertonic glucose and trace mineral by PN and is growing well. Last week drying and tickening of skin with desquamation began.

Gastrointestinal Manifestations(Classic)Most common age of presentation: 6-24 months

Chronic or recurrent diarrheaAbdominal distensionAnorexiaFailure to thrive or weight loss

Rarely: Celiac crisis Abdominal pain Vomiting Constipation Irritability

86Non-Gastrointestinal ManifestationsDermatitis HerpetiformisDental enamel hypoplasia of permanent teethOsteopenia/OsteoporosisShort StatureDelayed Puberty Iron-deficient anemia resistant to oral Fe Hepatitis Arthritis Epilepsy with occipital calcifications

Most common age of presentation: older child to adult

Listed in descending order of strength of evidence

87Serological TestsAntigliadin antibodies (AGA)Antiendomysial antibodies (EMA)Anti tissue transglutaminase antibodies (TTG) first generation (guinea pig protein)second generation (human recombinant)HLA typing88Commercially available tests for celiac disease include the antigliadin, anti endomysial and anti tissue-transglutaminase tests. Tissue transglutaminase has been identified as the auto-antigen in celiac disease against which endomysial antibodies are directed. Initial transglutaminase tests used guinea pig protein as the antigen. Cloning of the gene for human transglutaminase has allowed for tests using human recombinant protein. In addition to antibody tests, some commercial laboratories are offering tests to identify the HLA DQ2 and DQ8 genotypes that are known to be strongly associated with celiac disease.

A 4 mo old boy with short gut from extensive small bowel resection at 2 wks of life is receiving amino acids, hypertonic glucose and trace mineral by PN and is growing well. Last week drying and thickening of skin with desquamation began. The most likely cause of a deficiency is:

RiboflavinProteinEssential fatty acidsVitamin B12Copper54A 4 mo old boy with short gut from extensive small bowel resection at 2 wks of life is receiving amino acids, hypertonic glucose and trace mineral by PN and is growing well. Last week drying and thickening of skin with desquamation began.The most likely cause is a deficiency of:RiboflavinProteinEssential fatty acidsVitamin B12Copper5A 4 wk old boy has diarrhea and intermittent vomiting for 2 wks. He is getting cow milk formula, 175 to 200 ml q3h (8 feeds/24 hrs). Birth wt = 3.2Kg. PE = afebrile, wt 5.0Kg (90th %ile). Abdomen is slightly protuberant. No tenderness and bowel sounds are hyperactive. Which is most appropriate at this time?

Change feeds to soy-based formulaObtain stool culturesDetermine stool pHInstruct parents to reduce volume of feedsSchedule rectal manometry66A 7 yr old boy who has had school problems for the past 2 months received a megavitamin that supplies 50,000 u of Vitamin A, 100 mgs of thiamine, 100 mg of niacin, 1 g of ascorbic acid, 2000 u of Vit D, and 500 mg of Vit E . The most likely effect of this regimen will be:

Improved school performanceFlushing and sweatingIncreased thiamine level in CSFIncreased intracranial pressureLess URIs than in his peers47HypervitaminosisVit A (>20,000 IU/d) Inc ICP (pseudotumor), irritability, headaches, dry skin, Hepatosplenomegaly, cortical thickening of bones of hands and feetVit D (>40,000IU/d)-Hypercalcemia, constipation, vomiting, nephrocalcinosisVit E (100mg/kg/d) NEC/hepatotoxicity - ?due to polysorbate 80 (solubilizer)8An adolescent girl on a strict vegan diet is most likely to develop deficiency of which of the following water-soluble vitamins?

Folic acidNiacinRiboflavinCobalaminThiamine69Vitamin SourcesThiamine grains, cereals, legumesRiboflavin dairy, meat, poultry, leafy vegetablesPyridoxine all foodsNiacin meats, poultry, fish, wheatBiotin yeast, liver, kidneys, legumes, nutsFolic acid leafy vegetables,fruits, grainsB12 (Cobalamin) eggs, dairy, meats (not in plants)Vit C fresh fruits and vegetables 10Vitamin Deficiencies (fat soluble)A night blindness, xerophthalmia, Bitot spots, keratomalaciaD rickets/osteomalacia, low Ca/PhospE neurologic deficit (ataxia, ocular palsy, decreased DTRs)K - coagulapathy11Vitamin Deficiencies(water-soluble)Thiamine (B1) beriberi, cardiac failureRiboflavin (B2) seborrheic dermatitis, cheilosis, glossitisPyridoxine (B6) dermatitis, cheilosis, glossitis, peripheral neuritis, irritabilityVit B12 megaloblastic anemia, post spinal column changes 12Vitamin Deficiencies(water-soluble)Vit C scurvy, poor wound healing, bleedsFolic acid megaloblastic anemia, FTTNiacin pellagra (diarrhea, dermatitis, dementia), glossitis, stomatitisBiotin organic acidemia, alopecia, seizures 13A previously healthy 15 mo appears pale. He has been fed goat milk exclusively since birth. Labs reveal: HgB=6.1, WBC=4800, plts=144K, MCV=109. Diff is 29%polys, 68%lymphs, 3%monos. Polys are hypersegmented. What is the most likely cause of these lab findings?

ALLFanconi anemiaFolate deficiencyIron deficiencyVitamin B12 deficiency614An 8 mo old white infant is noted to have yellow skin. The sclerae are normal in color. Of the following, which is the most useful diagnostic test?

Measure serum bilirubin levelMeasure urine urobilinogen concMeasure serum Vitamin A levelEvaluate dietary historyMeasure serum T4 level615A previously well 10 yr old has fever and persistent vomiting. Initially the emesis was clear, then bile-stained and now it contains bright red blood. Brother has AGE 1 wk ago. PE and CBC/SMA-7 are normal. The most likely cause of hematemesis is:

Esophageal varicesEsophagitisGastric duplicationMallory-Weiss tearPeptic ulcer disease616Upper PresentationHematemesisRapid bleeding lesionCoffee ground emesisSlower bleedHematocheziaMelena17Upper GI Bleeding EsophagitisGastritisUlcer diseaseH. pyloriMallory-Weiss TearCaustic Ingestion/Foreign BodyEsophageal varicesEsophageal and gastric tumorsVascular anomalies CoagulapathyEpistaxisTonsillitis/ENT

VaricesDuplication of gutIBDHSPMunchausens syndrome by proxy

18Upper GI Bleeding(Infants) Swallowed maternal bloodHemorrhagic disease of the newbornCoagulopathyStress ulceration/gastritisMallory-Weiss tearAllergyEsophagitis (GERD)Vascular anomalyEpistaxis

VaricesDuplication of gutMunchausens syndrome by proxy

19EvaluationPE and VSLabsStool guaiacUpper endoscopy with biopsy*AXRayTagged rbc study20A 5 yr old girl was tx with amoxicillin for OM. One week later, she developed abd pain, and has been passing 6 stools daily that contain blood and mucus. PE has T of 101, abdominal distention and diffuse abd tenderness. Among the following, the most appropriate initial diagnostic study to perform is:

Barium enemaColonoscopy Clostridium difficile toxin evaluationStool for O & PStool for rotavirus621For the past 6 wks, a 4 yr old has had painless, bright red rectal bleeding assoc with bowel movements. PE of abdomen and anus are normal. The rectal vault is empty and no blood is noted on gross inspection. The most likely cause of hematochezia is:

Hemolytic-Uremic syndromeHenoch-Schonlein purpuraIntussusceptionJuvenile PolypsMeckels diverticulum622Lower GI Bleed 0 to 30 daysAnorectal lesionsSwallowed maternal blood (APT test)Milk allergyNECMidgut volvulusHirschsprungs disease23A 4 week old is brought to you for streaks of bright red blood in the stool. Child is breast fed, thriving and content. Exam shows seborrhea, benign abdomen and perianal exam. Your next intervention:

Remove milk and soy from the maternal dietGI referral for colonoscopyCall child welfare for possible abuse24Lower GI bleed 30 days to 1 yrAnorectal lesionsMilk Allergy IntussusceptionMeckels diverticulumInfectious diarrheaHirschsprungs disease

25Allergic ColitisWell appearing IrritableOccurs with formula and breast milkRemove milk and soy from dietProtein hydrolysateFlex sigReintroduce dairy at 1 year

26Lower GI Bleed 1-12 yearsCOMMON:Anal fissureJuvenile polypMeckels diverticulumInfectious diarrheaIBD

LESS COMMON:Henoch-Scholein purpuraHemolytic uremic syndromeIntestinal duplicationHemorrhoids

27Meckel DiverticulumPainless rectal bleeding< 4 years of ageFailure of omphalomesenteric duct to obliterate2% of populationWithin 2 feet of ileocecal valveMeckel scan technetium 99m pertechnetate scan

28amt ColorStoolPainThinkSmallRedHardYes fissureSm-modRedlooseVaries (abd)IBD,HUS, infRednl, coatedNoPolypModRed-TnlYes-abd HSPModnlIntussModlooseHD?????LargenlNoMD29A 3,200 gm newborn is noted to be jaundiced on postnatal day #10. Total Bili is 9.0 with a direct Bili of 0.8 mg/dl. Hct is 48%. Baby and mom are blood type O, Rh+. Baby is breast fed exclusively. The most likely explanation of high Bili is:

Biliary atresiabreast milk jaundiceCholedochal cystHypothyroidismNeonatal hepatitis630Unconjugated HyperbilirubinemiaPhysiologic exaggerated by hemolysis or hematomaBreast feedingBreast Milk (late onset)Crigler-Najjar syndrome I & IIHypothyroidIntestinal obstruction31A 3 wk old girl has fever and vomiting. PE include bulging fontanelle and hepatomegaly. The pt had jaundice and vomiting during the 1st wk after birth. She has been breast-fed. What is the most likely Dx?

Fructose aldolase deficiencyFructose 1,6 diphosphatase deficiencyGlycogen Storage Disease type 1Neonatal adrenoleukodystrophyGalactosemia632Direct HyperbilirubinemiaExtrahepatic 1.*** Extrahepatic Biliary Atresia2. ***Choledochal Cyst3. Choledocholithiasis4. Extrinsic bile duct compression

33Direct HyperbilirubinemiaIntrahepaticMetabolic Familial intrahepatic cholestasisInfectiousAnatomic Paucity of intrahepatic bile ductsMisc TPN, Neonatal Lupus34EHBADirect HyperbiliAcholic stoolElevated transaminases and GGTDISIDA scan (99mTc-disofenin)Liver biopsyKasai portoenterostomy Folivepyloric sonogramHypochloremic metabolic alkalosisSurgery61Your previous patient is now 2 and accompanies his mother with his 6 week old brother who has vomiting. This has increased over the last 24 hours. The mother is tired, overwhelmed and complains of her increased dry cleaning expenses as she shows you her vomit stained white blouse that now has green and yellow stains. As your nurse provides her a sympathetic ear, you

Get samples of a low allergy formulaOrder a pyloric sonogramCall the ED to alert them of a neonatal bowel obstruction patientSend in your junior partner to deal with it662Once in the emergency room, proper management of this infant would include:

Intravenous fluid resuscitationStat pediatric surgical consultationContrast imaging of the bowelNasogastric decompressionAll of the above663VolvulusAbnormal fixation of bowel mesentery during fetal developmentMost occur in utero or early infancySudden onset of abdominal pain and bilious emesisIschemia and necrosisUGI series 64The previous mother is grateful and sends her own 45 year old post-partum mother to see you with her Trisomy 21 infant who was just sent home from the hospital vomiting. The child is just at birth weight. You send her to the ED and a series of radiographs do not show an obstructive pattern. Rather, there are only two pockets of air in the epigastric region. You are again the star as you diagnose:

Vulnerable child syndromeCeliac diseaseMilk protein allergyDuodenal atresia665Duodenal AtresiaDouble-bubble sign 1:4,500 newborns2-5% Trisomy 21Assoc with obstructive processes i.e. annular pancreasAlso found in fetal alcohol syndrome

66Differentiating GER and GERDGERGastroesophageal Reflux. Passage of gastric contents into the esophagusRegurgitationPassage of refluxed gastric contents into oral pharynxVomitingExpulsion of refluxed gastric contents from mouthGERDGastroesophageal Reflux Disease. Symptoms or complications that occur when gastric contents reflux into esophagus or oropharynx67In order to understand the pathophysiology and epidemiology of gastroesophageal reflux disease, or GERD, some basic definitions are needed. The literature has numerous studies which define GERD in a number of ways; in many, what is being described may in fact be normal physiological reflux. This slide highlights how to differentiate gastroesophageal reflux (GER) from GERD.

Gastroesophageal reflux is actually normal and it is physiologic--simple passage of gastric contents into the esophagus. Regurgitation, which is a normal physiologic action and can also be pathologic depending upon its frequency, is passage of reflux gastric contents into the oral pharynx. Vomiting, expulsion of reflux gastric contents from the mouth, can be a component of GERD or other diseases, and is also physiologic. GERD are the symptoms and/or complications that occur with gastric content reflux into the esophagus or into the oral pharynx. GERD is the pathophysiologic or pathologic state.

Prevalence of Regurgitationin Healthy InfantsNelson et al. Arch Pediatr Adolesc Med. 1997;151:569Infants (%)100

0500-34-67-910-12Age (months) 1 time a day 4 times a dayn = 94868Regurgitation is the most common manifestation of gastroesophageal reflux (GER) in childhood. A cross-sectional survey completed by 948 parents showed that the prevalence rate of regurgitation (at least 1 episode daily) was 50% in 0 to 3-month-old infants, reached a peak of 67% at 4 months, and dropped dramatically to 5% in 10- to 12-month-old infants. A similar pattern was reported for regurgitation of at least 4 episodes daily. Many subjects in this survey outgrew GER by 7 months and most by 1 year. At 1-year follow-up, infants with previously reported daily regurgitation no longer were symptomatic not one of their parents described spitting up as a current problem. These findings support the concept that GER in most infants and children is a physiologic and self-limiting condition.Delayed gastric emptying timeTransient lower esophageal sphincter relaxation; decreased LES pressureImpaired esophageal clearancePathophysiology of GERDOrlando et al, eds. Textbook of Gastroenterology: JB Lippincott Co;1995:1214. Fennerty et al. Arch Intern Med. 1996;156:477.Kawahara et al. Gastroenterology 1997;113:399.69On the schematic in this slide, the pathophysiology of GERD is shown. There have been a number of well designed case-control studies which compared series of children with GERD to normal controls. Using a technique called esophageal manometry showed that transient lower esophageal sphincter relaxation was consistently more common in children with GERD. This was also associated with inhibition of lower esophageal body peristalsis.Other mechanisms contributing to GERD are overall decreased tone or pressure of the LES, as well as impaired esophageal clearance. These tend to occur more frequently in older children and adults than in infants.

Diagnosis of GERDBarium swallow/Upper gastrointestinal series (anatomy)Ambulatory single or dual-channel pH monitoringImpedanceEndoscopy and biopsyRadionuclide scanning71Supra-esophageal GERD is diagnosed in similar ways as esophageal GERD, and at present, there is not one gold standard for diagnosis. Comprehensive history and physical exam and initiation of empiric therapy are common practice and appear to be effective. Diagnostic tests like barium swallow, endoscopy and biopsy and ambulatory dual channel pH probe have all been used or considered and may be indicated based on the presenting symptoms of the patient, but none are the definitively accurate test.Complications of GERDErosive esophagitisPeptic strictureBarretts esophagusAdenocarcinomaRudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.72What are some of the complications of GERD? Four of the most serious GERD-related complications are shown in this slide: erosive esophagitis, peptic stricture, Barretts esophagus and adenocarcinoma. Erosive esophagitis used to be an entity that was felt to be relatively rare in the pediatric population. However a recent study performed by the Pediatric Endoscopy Database System Clinical Outcomes Research Initiative Registry (PEDS-CORI) led by Mark Gilger at Texas Childrens, demonstrated a high percentage of children with erosive esophagitis who underwent diagnostic upper endoscopy. In a cohort of over 8,000 pediatric patients, erosive esophagitis was observed in 13%; a much higher prevalence rate than expected or previously believed.Peptic stricture, also occurs in childhood, and now Barretts esophagus and adenocarcinoma, which previously had been felt to be adult diseases, have been described in the pediatric population.

Step-Up Therapy for GERDFOR INFANTSNormalize feeding volume and frequencyConsider thickened formulaPositioningConsider trial of hypoallergenic formulaFOR OLDER CHILDRENAvoid large mealsDo not lie down immediately after eatingLose weight, if obeseAvoid caffeine, chocolate, and spicy foods that provoke symptomsEliminate exposure to cigarette smokeShalaby et al. J. Ped. 2003;142:57.73Step-up (i.e., start with the least invasive, most conservative approach first) or conservative therapy for GERD is shown in this slide. The left column depicts the approach for infant GERD; the right column the approach for older children with GERD. Rudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.Gold. Paediatric Drugs 2002;4:673.Gibbons et al. Paediatric Drugs 2003;5:25.Pharmacologic Management of Moderate-to-Severe GERDProkineticsMetoclopramideMany possible side effects which may include tardive dyskinesis (may be irreversible)Other agents include domperidone, bethanechol* and erythromycinH2RAsAvailable in tablet, elixir, or rapid dissolve form (must be dissolved in water, not on tongue)Pediatric safety, dosing data for ranitidine and famotidinePPIsAvailable in capsule, liquid suspension, or rapid dissolve formPediatric safety, dosing data for lansoprazole and omeprazole*Bethanechol not approved for pediatric GERD.74There are three major classes of agents that are utilized to manage mild-to-moderate GERD; prokinetics, H2-receptor antagonists (H2RAs) and proton pump inhibitors (PPIs). Both the H2RAs and the PPIs are available in liquid or suspension forms and are indicated for managing mild-to-moderate symptoms of GERD. There are pediatric safety dosing data available for ranitidine and famotidine, as well as for lansoprazole and omeprazole. Metoclopramide is a prokinetic that is utilized in a number of children, yet has shown efficacy in a moderate number. However, metoclopramide should be used with caution since it has many side effects and it crosses the blood-brain barrier. Bethanachol and domperidone (unavailable in the U.S.) are two additional prokinetics that have been used in children. Both have significant side effects and have only been shown to be marginally effective. With the removal of cisapride from the U.S. market, there is insufficient evidence that the other prokinetic agents are effective in the treatment of GERD in infants and children (Gibbons TE and Gold BD. The use of proton pump inhibitors in children: a comprehensive review. Paediatric Drugs, 2003; 5(1):25-40).IngestionsForeign bodies present with dysphagia and possibly poor handling of secretionsNot all foreign bodies are seen on plain filmmay need bariumEndoscopic removal by 24 hoursAlkali ingestions may burn esophagus and not the mouth75Diarrhea--InfectiousViralless than one weekRotavirus: most common cause of viral diarrheal disease in infants and toddlersBacterialsick, bloodSalmonella, Shigella, Yersinia, Campylobacter, E ColiParasiticpersistent**C. Difficile:After antibiotics/hospitalizationCheck for toxin A and BColonization not pathogen in neonates76DiarrheaLeading cause of morbidity and mortality in developing countriesDaycare centers important reserviorIn US35-40 million episodes annually in kids