1. Joel Rosh, M.D. Harvey Aiges, M.D. James Markowitz, MD
GI and Nutrition
Joel Rosh, M.D.
Harvey Aiges, M.D.
James Markowitz, MD

2. Compared to human milk, cow milk formula is more likely to contain which one of the following?
More essential fatty acids
Higher protein concentration
Increased lactose content
Lower Calcium-phosphate ratio
Lower iron concentration

3. Human Milk has: Low protein (very bio-available)
High lactose Low iron (very bio-available if taken alone)
Low Calcium-Phosphate ratio
Inadequate Vitamin K
? Adequate Vitamin D
Immunoglobulins (including SIgA)

4. The most likely cause is a deficiency of: Riboflavin Protein
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 is a deficiency of:
Riboflavin
Protein
Essential fatty acids
Vitamin B12
Copper

5. Which is most appropriate at this time?
A 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 formula
Obtain stool cultures
Determine stool pH
Instruct parents to reduce volume of feeds
Schedule rectal manometry

6. The most likely effect of this regimen will be:
A 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 performance
Flushing and sweating
Increased thiamine level in CSF
Increased intracranial pressure
Less URIs than in his peers

7. Hypervitaminosis
Vit A (>20,000 IU/d) – Inc ICP (pseudotumor), irritability, headaches, dry skin, H-Smegaly, cortical thickening of bones of hands and feet
Vit D (>40,000IU/d)-Hypercalcemia, constipation, vomiting, nephrocalcinosis
Vit E (100mg/kg/d) – NEC/hepatotoxicity - ?due to polysorbate 80 (solubilizer)

8. Folic acid Niacin Riboflavin Cobalamin Thiamine
An adolescent girl on a strict vegan diet is most likely to develop deficiency of which of the following water-soluble vitamins?
Folic acid
Niacin
Riboflavin
Cobalamin
Thiamine

9. Vitamin Sources Thiamin – grains, cereals, legumes
Riboflavin – dairy, meat, poultry,leafy vegetables
Pyridoxine – all foods
Niacin – meats, poultry, fish, wheat
Biotin – yeast, liver, kidneys, legumes, nuts
Folic acid – leafy vegetables,fruits, grains
B12 – eggs, dairy, meats (not in plants)
Vit C – fresh fruits and vegetables

10. Vitamin Deficiencies (fat soluble)
A – night blindness, xerophthalmia, Bitot spots, keratomalacia
D – rickets/osteomalacia, low Ca/Phosp
E – neurologic deficit (ataxia, ocular palsy, decreased DTRs)
K - coagulapathy

11. Vitamin Deficiencies (water-soluble)
Thiamine (B1) –beriberi, cardiac failure
Riboflavin (B2) – seborrheic dermatitis, cheilosis, glossitis
Pyridoxine (B6) – dermatitis, cheilosis, glossitis, peripheral neuritis, irritability
Vit B12 – megaloblastic anemia, post spinal column changes

12. Vitamin Deficiencies (water-soluble)
Vit C – scurvy, poor wound healing, bleeds
Folic acid – megaloblastic anemia, FTT
Niacin – pellagra (diarrhea, dermatitis, dementia), glossitis, stomatitis
Biotin – organic acidemia,alopecia, seizures

13. What is the most likely cause of lab findings? ALL Fanconi anemia
A 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 lab findings?
ALL
Fanconi anemia
Folate deficiency
Iron deficiency
Vitamin B12 deficiency

14. Of the following, which is the most useful diagnostic test:
An 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 level
Measure urine urobilinogen conc
Measure serum Vitamin A level
Evaluate dietary history
Measure serum T4 level

15. The most likely cause of the hematemesis is: Esophageal varices
A previously well 10 yr old has fever and persistant 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 the hematemesis is:
Esophageal varices
Esophagitis
Gastric duplication
Mallory-Weiss tear
Peptic ulcer disease

16. Upper GI Bleeding Maternal blood * Stress gastritis * Coagulapathy
Epistaxis
Tonsillitis/ENT
Esophagitis
Gastritis
Mallory-Weiss tear
Varices
Duplication of gut
Ulcer disease
HSP
Hemobilia
Hemophilia
Munchausen’s syndrome by proxy

17. Clostridium difficile toxin evaluation Stool for O & P
A 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 enema
Colonoscopy
Clostridium difficile toxin evaluation
Stool for O & P
Stool for rotavirus

18. The most likely cause of the hematochezia is:
For 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 the hematochezia is:
Hemolytic-Uremic syndrome
Henoch-Schonlein purpura
Intussusception
Juvenile Polyps
Meckel’s diverticulum

19. amt
Color
Stool
Pain
Think
Small
Red
Hard
Yes
fissure
Sm-mod
loose
Varies (abd)
IBD,HUS, inf “
nl, coated No
Polyp
Mod
Red-T nl
Yes-abd
HSP
Intuss HD
Large MD

20. The most likely explanation for high Bili is: Biliary atresia
A 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 for high Bili is:
Biliary atresia
“breast milk” jaundice
Choledochal cyst
Hypothyroidism
Neonatal hepatitis

21. Unconjugated Hyperbilirubinemia
Physiologic – exaggerated by hemolysis or hematoma
Breast feeding
Breast Milk (late onset)
Crigler-Najjar syndrome I & II
Hypothyroid
Intestinal obstruction

22. What is the most likely Dx? Fructose aldolase deficiency
A 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 deficiency
Fructose 1,6 diphosphatase deficiency
Glycogen Storage Disease type 1
Neonatal adrenoleukodystrophy
Galactosemia

23. Direct Bilirubinemia Extrahepatic 1.*** Extrahepatic Biliary Atresia
2. ***Choledochal Cyst
3. Choledocholithiasis
4. Extrinsic bile duct compression

24. Direct Bilirubinemia Intrahepatic Metabolic
Familial intrahepatic cholestasis
Infectious
Anatomic – Paucity of intrahepatic bile ducts
Misc – TPN, Neonatal Lupus

25. The most like cause of the hyperbilirubinemia Chronic active hepatitis
A 12 yr old girl has recurrent bouts of scleral icterus, often after viral illnesses. She is otherwise well and is taking no meds. Labs reveal: Total Bili of 3.4 mg/dl with direct Bili of 0.3 mg/dl. ALT/PT/APPT are all normal
The most like cause of the hyperbilirubinemia
Chronic active hepatitis
Dubin-Johnson syndrome
Gilbert syndrome
Hepatitis A
Infectious Mononucleosis

26. Determine AST/ALT levels Determine presence of Hepatitis B surface Ag
Severe RUQ pain, intense jaundice and dark urine in a 9 yr old girl w chronic mild jaundice from spherocytosis.
Which diagnostic test is most likely to give correct diagnosis of her current state:
Determine AST/ALT levels
Determine presence of Hepatitis B surface Ag
Radionuclide scan of liver
Ultrasound of abdomen
PAPIDA scan

27. School (first grade) avoidance Constipation
A 6 year old boy is brought to your office with a history of 36 hours of increasing anorexia and periumbilical pain. Last night he had his first episode of nocturnal enuresis in 3 years. He is afebrile and has a benign abdominal exam. Your diagnosis:
Acute appendicitis
Strep Pharyngitis
School (first grade) avoidance
Constipation

28. Evaluation of Acute Abdominal Pain
History-
Other sxs (Vomit, BM changes, Systemic)
Physical Exam
Skin, Lungs, Abdomen, Rectal exam (guaiac)
Imaging
Plain Films, Sonogram
Lab
CBC, lytes, Liver/albumin, Pancreas, Urine

29. Stool for guaiac CBC Urinalysis Abdominal sonogram
A 12 year girl comes to the office with 36 hours of abdominal pain, fever and anorexia. Pain is periumbilical and worse in the car than now. You think of appendicitis. Helpful lab tests could include all except
Stool for guaiac
CBC
Urinalysis
Abdominal sonogram

30. A 17 year old member of the track team comes in with epigastric discomfort and nausea. The big meet is tomorrow and he has been training hard for his last chance to win the medal in his event. He has no significant past medical history other than mild exercise induced asthma and uses an inhaler as he needs. He also uses ibuprofen for muscle pain when training. Your diagnosis:

31. Diagnosis Atypical asthma Performance anxiety Intestinal parasite
NSAID complication

32. GI referral for upper endoscopy Counseling for drug and alcohol abuse
An 18 year old who saw you to start birth control pills prior to going to college now comes in with recurrent, crampy post-prandial epigastric pain that sometimes travels below her right ribs. On exam you find that she has slight scleral icterus, vague epigastric tenderness and a belly button ring. Her urine pregnancy test is negative. Your next step:
GI referral for upper endoscopy
Counseling for drug and alcohol abuse
Switch the form of birth control
Order an abdominal sonogram

33. Further family and social history
A seven year old is seen for a bicycle accident. He is fine other than a few abrasions and an ecchymotic area on his abdomen where he hit the handlebars. 24 hours later, he has significant abdominal and back pain and recurrent non-bilious vomiting. You make the diagnosis with:
Further family and social history
Liver chemistries, amylase and lipase
An upper GI series
Stool for guaiac

34. disimpaction dose of PEG (polyethelene glycol)
A 2 year old is brought to you for trouble stooling. Over the last 18 hours he has become “tired and miserable”. He now seems to vomit when straining to pass stool. On exam you notice that he appears lethargic and has a palpable mass in the mid-abdomen. Your next intervention is:
disimpaction dose of PEG (polyethelene glycol)
counseling on toilet training
stat abdominal CT scan for appendicitis
barium enema

35. A 11 year girl comes to see you for recurrent periumbilical pain for the last 9 months. It is worse in the morning, especially on school days. There is no vomiting or weight loss but she does frequently have non-bloody diarrhea with resolution of the pain. Her exam is benign and stool is guaiac negative.

36. Your preferred working diagnosis:
school avoidance
Crohn Disease
irritable bowel syndrome
ulcerative colitis

37. stool for ova and parasites
Her symptoms persist so you plan an evaluation that should include all of the following EXCEPT:
celiac serology
lactose breath test
abdominal CT scan
stool for ova and parasites

38. Reasonable interventions for this patient would not include:
Cognitive behavioral therapy
Dietary manipulation
Trial of low dose Tri-cyclic antidepressants
Empiric therapy for Helicobacter pylori
Symptom-based therapy

39. RAP—Red Flag Symptoms Nocturnal awakening Persistent Vomiting
Dysphagia
Bleeding
Systemic Signs (Fever, Rash, Arthritis)
Affected Growth/Development

40. Organic Causes of RAP Crohn’s Disease Celiac Disease Acid-Peptic/GERD
Carbohydrate malabsorption
Infection (eg Giardia)

41. Symptom Based Diagnoses
Irritable Bowel Syndrome:
Diarrhea Predominant
Constipation Predominant
Alternating Stool Pattern
Functional Dyspepsia
Functional Abdominal Pain
Abdominal Migraine
Aerophagia

42. IBS--Treatment Education and reassurance
Proper nutrition/food avoidance
Counseling/Cognitive-Behavior
Medications:
Antispasmodic
Anti-diarrheal
Tricyclic antidepressants
Serotonin receptor agents

43. A metabolic evaluation Stat head CT scan
A concerned 22 year old first time mom brings in her 6 week old “vomiter”. After every feed her son “vomits the whole thing”. You note the child is slightly above birth weight and the mother states he seems to be urinating less. You make the diagnosis with:
A metabolic evaluation
Stat head CT scan
Upper endoscopy by your local Pediatric GI
Abdominal sonography

44. Get samples of a low allergy formula Order a pyloric sonogram
Your 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 formula
Order a pyloric sonogram
Call the ED to alert them of a neonatal bowel obstruction patient
Send in your junior partner “to deal with it”

45. Intravenous fluid resuscitation Stat pediatric surgical consultation
Once in the emergency room, proper management of this infant would include:
Intravenous fluid resuscitation
Stat pediatric surgical consultation
Contrast imaging of the bowel
Nasogastric decompression
All of the above

46. Vulnerable child syndrome Celiac disease Milk protein allergy
The 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 syndrome
Celiac disease
Milk protein allergy
Duodenal atresia

47. Differentiating GER and GERD
Gastroesophageal Reflux. Passage of gastric contents into the esophagus
Regurgitation
Passage of refluxed gastric contents into oral pharynx
Vomiting
Expulsion of refluxed gastric contents from mouth
GERD
Gastroesophageal Reflux Disease. Symptoms or complications that occur when gastric contents reflux into esophagus or oropharynx
In 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.

48. Prevalence of Regurgitation in Healthy Infants
100
n = 948
≥ 1 time a day
≥ 4 times a day
Infants (%) 50
Regurgitation 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.
0-3
4-6
7-9
10-12
Age (months)
Nelson et al. Arch Pediatr Adolesc Med. 1997;151:569

49. Pathophysiology of GERD
Delayed gastric emptying time
Transient lower esophageal sphincter relaxation; decreased LES pressure
Impaired esophageal clearance
On 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.
Orlando 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.

50. Presenting Symptoms and Signs of GERD
Infants
Feeding refusal
Recurrent vomiting
Poor weight gain
Irritability
Sleep disturbance
Apnea or Apparent Life-Threatening Event (ALTE)
Older child/adolescent
Recurrent vomiting
Heartburn
Dysphagia
Asthma
Recurrent pneumonia
Upper airway symptoms (chronic cough, hoarse voice)
The specific symptoms and signs of GERD in infants (on the left) are compared in this slide to older children and adolescents (on the right). First, whether the infant group or the older child group, GERD-related symptoms are different than you see in an adult. It’s not until they reach pre-adolescence and adolescence that you start to see the typical symptoms, such as heartburn or dysphasia.
In the infant GERD symptoms such as feeding refusal, recurrent vomiting, poor weight gain are described. A syndrome called Sandifer’s syndrome can be seen in infants (i.e., arching or head tilting) and is more commonly described in children 18 months to three years of age. In this GERD-related syndrome, the child will turn their head to the side in order to increase LES pressure and lengthen the esophagus and decrease exposure of the esophagus to acids.
In the older child and adolescent recurrent vomiting can occur, as well as asthma, recurrent pneumonia. These latter two symptoms are what are called extra- or supra-esophageal manifestations of GERD.
Rudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.

51. Diagnosis of GERD
Barium swallow/Upper gastrointestinal series (anatomy)
Ambulatory single or dual-channel pH monitoring
Endoscopy and biopsy
Radionuclide scanning
Supra-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.
Eid et al. Pediatric Respiratory Reviews 2004;5:Supplemet A.
Wasowska-Krolikowska et al. Med Sci Monit. 2002;8:RA64.
Sermon et al. Dig Liver Dis. 2004;36:102.

52. Rudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.
Complications of GERD
Erosive esophagitis
Peptic stricture
Barrett’s esophagus
Adenocarcinoma
What are some of the complications of GERD?
Four of the most serious GERD-related complications are shown in this slide: erosive esophagitis, peptic stricture, Barrett’s 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 Children’s, 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 Barrett’s esophagus and adenocarcinoma, which previously had been felt to be adult diseases, have been described in the pediatric population.
Rudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.

53. Step-Up Therapy for GERD
FOR INFANTS
Normalize feeding volume and frequency
Consider thickened formula
Positioning
Consider trial of hypoallergenic formula
FOR OLDER CHILDREN
Avoid large meals
Do not lie down immediately after eating
Lose weight, if obese
Avoid caffeine, chocolate, and spicy foods that provoke symptoms
Eliminate exposure to cigarette smoke
Step-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.
Shalaby et al. J. Ped. 2003;142:57.

54. Pharmacologic Management of Moderate-to-Severe GERD
Prokinetics
Metoclopramide
Many possible side effects which may include tardive dyskinesis (may be irreversible)
Other agents include domperidone, bethanechol* and erythromycin
H2RAs
Available in tablet, elixir, or rapid dissolve form (must be dissolved in water, not on tongue)
Pediatric safety, dosing data for ranitidine and famotidine
PPIs
Available in capsule, liquid suspension, or rapid dissolve form
Pediatric safety, dosing data for lansoprazole and omeprazole
There 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).
Rudolph et al. J Pediatr Gastroenterol Nutr. 2001;32:S1.
Gold. Paediatric Drugs 2002;4:673.
Gibbons et al. Paediatric Drugs 2003;5:25.
*Bethanechol not approved for pediatric GERD.

55. Ingestions
Foreign bodies present with dysphagia and possibly poor handling of secretions
Not all foreign bodies are seen on plain film—may need barium
Endoscopic removal by 24 hours
Alkali ingestions may burn esophagus and not the mouth

56. Diarrhea--Infectious
Viral—less than one week
Bacterial—sick, blood
Parasitic—persistent
**C. Difficile:
After antibiotics/hospitalization
Check for toxin A and B
Colonization not pathogen in neonates.

57. E. Coli 0157:H7: associated Hemolytic Uremic Syndrome
Often presents with colitis (bloody diarrhea)
Hemolysis, uremia develop
Poly-- then oligouric renal failure
Thrombocytopenia
**associated with anti-diarrheal and antibiotic use***

58. Toddler’s—Dietary Diarrhea
Low fat
- most commonly due to milk restriction
High osmolarity fluids
- juice, gatorade, powerade, ice tea, etc.
Thereforeoften iatrogenic!

59. Dietary Diarrhea Clinically: Contributors: Well No blood, fever, etc.
Sorbitol, fruit juice, excessive fluids
Lactose intolerance

60. Lactose Intolerance Management Diagnosis: Restriction v. supplement
If restriction supplement calcium
Diagnosis:
Clinical
Breath test
Disaccharidase levels in tissue
??genetics

61. Remove milk and soy from the maternal diet GI referral for colonoscopy
A 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 diet
GI referral for colonoscopy
Call child welfare for possible abuse

62. Celiac Disease
Autoimmune
Triggered by gluten
Not rare—1:133!

63. Gastrointestinal Manifestations (“Classic”)
Most common age of presentation: 6-24 months
Chronic or recurrent diarrhea
Abdominal distension
Anorexia
Failure to thrive or weight loss
Rarely: Celiac crisis
Abdominal pain
Vomiting
Constipation
Irritability

64. Non-Gastrointestinal Manifestations
Most common age of presentation: older child to adult
Dermatitis Herpetiformis
Dental enamel hypoplasia
of permanent teeth
Osteopenia/Osteoporosis
Short Stature
Delayed Puberty
Iron-deficient anemia
resistant to oral Fe
Hepatitis
Arthritis
Epilepsy with occipital
calcifications
Listed in descending order of strength of evidence

65. Serological Tests Antigliadin antibodies (AGA)
Antiendomysial antibodies (EMA)
Anti tissue transglutaminase antibodies (TTG)
first generation (guinea pig protein)
second generation (human recombinant)
HLA typing
Commercially 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.

66. Histological Features
Normal 0
Infiltrative 1
Hyperplastic 2
This slide illustrates the various histolopathological findings that occur in celiac disease.
Partial atrophy 3a
Subtotal atrophy 3b
Total atrophy 3c
Horvath K. Recent Advances in Pediatrics, 2002.

67. Treatment
Only treatment for celiac disease is a gluten-free diet (GFD)
Strict, lifelong diet
Avoid:
Wheat
Rye
Barley

68. Malabsorption Carbohydrate Fat Check stool pH
Check stool reducing substances
Fat
Qualitative vs. Quantitative (72 hour) measures
Think CF—treated with enzyme replacement

69. Hirschsprung’s Disease
History of delayed passage of meconium
Failure to thrive
Abdominal distension
Vomiting/obstructive picture
Potential complications:
Perforation esp. cecal
Enterocolitis/sepsis
death

70. Hirschsprung’s Disease: Diagnosis
CLINICAL SUSPICION
Obstructive series radiographs
Barium enema (older child)
Suction rectal biopsy—gold standard

71. Fecal overflow incontinence
A six year old is brought to you for diarrhea. Child stools multiple times during the day—seems to be all day. Often there is stool in the underwear. Your exam is notable for a tympanitic abdomen and LLQ mass. Your diagnosis:
Neuroblastoma
Giardiasis
Lactose intolerance
Fecal overflow incontinence

72. Treatment of Constipation
Stimulant laxatives—
Senna, bisacodyl
Stool softners/osmotics
PEG
Lactulose
ducosate
Lubricants
Mineral oil

73. Rectal Prolapse CF till proven otherwise
Constipation more common cause

74. IBD GENETIC INFECTION? PSYCHOGENIC DIETARY SMOKING DRUGS?
ENVIORNMENTAL
DIETARY
SMOKING
DRUGS?

75. Crohns Disease Auto-inflammatory Associated symptom—GI/systemic
33% with physical findings
Clubbing
Peri-anal changes
Apthous stomatitis

76. Crohn’s and Growth Failure
Can be presenting symptom
Multi-factorial
Nutritional ie. Poor intake
Malabsorption
Direct cytokine/inflammatory effect on bone

77. Ulcerative Colitis “the bloody diarrhea” Limited to colon
Continuous disease