Pediatric GI Disease Cases

Question 1

What is scalloping of the duodenal folds suggestive of?

Answer 1

Celiac disease

Question 2

Does celiac disease have a lot of non-GI manifestations?

Answer 2

Yes. Most of them seem to due to malabsorption (such as delayed puberty, Fe-deficiency anemia, osteopenia)… but not all of them.

Question 3

What genes have strong a strong association with celiac disease?

Answer 3

HLA DQ2, mostly.

Also HLA DQ8.

Question 4

What’s the main antigen in celiac disease?

Answer 4

Gliadin.

Question 5

Type of immune response in celiac disease?

Answer 5

Th1 with IFN-gamma production.

Question 6

2 sequelae of celiac disease?

Answer 6

Malabsorption

Increased intestinal permeablility -> may predispose to autoimmune diseases.

Question 7

What are 3 antigens against which there are auto-antibodies for which we test for in celiac disease? For each, is IgG or IgA assayed?

Answer 7

Gliadin (AGA) - IgG and IgA
Endomysium (EMA) - IgA
Transglutaminase (TTG) - IgA

Question 8

Is diagnosis of celiac based on serology or biopsy?

Answer 8

Depends on the country… but in the US, a biopsy is required for diagnosis.

Question 9

3 histological features of celiac disease.

Answer 9

In the small bowel…
Villous atrophy.
Crypt hyperplasia.
Intra-epithelial lymphocytes.

Question 10

Does the small bowel epithelium of celiac tend to recover when patient goes on a gluten-free diet?

Answer 10

Yes - and prognosis doesn’t seem to be linked to the severity of the damage when diagnosed.

Question 11

What are 2 diseases quite similar to eosinophilic esophagitis that affect other parts of the GI tract?

Answer 11

Allergic proctocolitis

Eosinophilic gastroenteritis

Question 12

Is there non-allergic eosinophilic esophagitis? Cause? How does this contrast histologically from allergic esophagitis?

Answer 12

Yes. It can be caused by reflux, and responds to PPIs.

Allergic eosinophilic esophagitis has way more eosinophils than does non-allergic.

Question 13

Who gets eosinophilic proctocolitis?

Answer 13

Mainly infants

Question 14

What’s the most common antigen in eosinophilic proctocolitis?

Answer 14

Cow’s milk - either from infant’s diet, or from mom’s via breastmilk.

Question 15

In terms of severity / treatability, how does eosinophilic gastroenteritis compare to esophagitis, proctolitis?
Where does it most often affect?

Answer 15

It’s the most difficult to treat.

Affects various places in GI tract, antrum of stomach is most common.

Question 16

Is eosinophilia of the GI tract always allergy?

Answer 16

No, and “allergies” don’t always cause eosinophilia (e.g. celiac).

Question 17

What genetic disorder mentioned can cause both inflammatory bowel disease and predisposition to infections (esp respiratory infections)?

Answer 17

X-linked chronic granulomatous disease (CGD) - probably a few other things could do this, too.

Question 18

What’s defective in CGD? How does this cause inflammatory bowel disease?

Answer 18

Defect in the ability of phagocytes to make reactive oxygen species -> cant kill bacteria / fungi as well.
It’s thought that pathogens penetrate gut -> cause inflammation.

Question 19

What disease should you think of if you see inflammatory bowel disease and can’t find any plasma cells on biopsy?

Answer 19

X-linked agammaglobulinemia.

Question 20

What can IgA deficiency mimic in the duodenum? In the colon?

Answer 20

Can mimic celiac in the duodenum.

IBD in the colon.