Schwachman Diamond Syndrome

Question 1

Diagnostic Criteria

Answer 1

1. Bone Marrow Failure - Neutropenia!! +/- Anemia, thrombocytopenia
2. Pancreas- Exocrine pancreatic insufficiency(in CF most common)
3. Skeletal Abnormalities , Short stature

Question 2

Treatment

Answer 2

Pancreatic enzyme replacement - Vitamins A,K ,E , D - monitoring Blood count

Question 3

Complications

Answer 3

Cancer [ AML , MDS ]