GI & Nutrition

Question 1

What is Shwachman-Diamond syndrome?

Answer 1

• 2nd MCC exocrine pacreatic insufficiency in children
• AR
• presents in early infancy with steatorrhea; growth failure; often deficiencies of fat-soluble vitamins A, D, E, and K; and symptoms arising from bone marrow dysfunction (pancytopenia)
• Up to 90% of affected patients manifest specific genetic mutations at chromosomal locus 7q11; diagnosis is usually made by genetic testing for the specific mutation

Question 2

What is Cullen sign?

Answer 2

bluish discoloration around/near umbilicus

(seen in acute hemorrhagic pancreatitis)

Question 3

What is Grey turner sign?

Answer 3

bluish discoloration of the flanks

(seen in acute hemorrhagic pancreatitis)

Question 4

Rare congenital pancreatic syndromes:

1. Johanson-Blizzard syndrome
2. Pearson pancreatic and **bone marrow **syndrme

Answer 4

1. pancreatic acinar cell hypoplasia with preserved ductal function; presents with agensis/hypoplasia of nostrils, cardiac anomalies, deafness, hypothyroidism, DD
2. pancreatic cell atrophy with fibrosis–>dec acinar AND ductal function. Can have pancytopenia. Hemosiderosis is common.

Question 5

When should breastfed babies be started on iron supplements? And how much?

Answer 5

4months; 1mg/kg/day