Schwachman-Diamond Syndrome

Schwachman-Diamond Syndrome was the topic of the question of the day yesterday, and my team and I bombed it badly. First I accused our chief resident of inventing the syndrome, but it turned out that the syndrome is real. The Diamond of Schwachman-Diamond fame is indeed the same Diamond as that of Diamond-Blackfan fame.

A quick google scholar search on Schwachman-Diamond Syndrome and the 2nd hit found a review article from 2002.

Cliff's Notes:

• The syndrome classically has three fundamental features:
• 1. pancreatic insufficiency
• 2. leukopenia
• 3. metaphyseal dysostosis

• It is the 2nd most common cause of pancreatic insufficiency in children (behind CF), and the third most common cause of inherited bone marrow failure behind Fanconi's anemia and Diamond-Blackfan.
• It is autosomal recessive.
• It is associated with MDS and AML
  
• Patients are susceptible to viral/bacterial/fungal infections secondary to a qualitative and quantitative immunodeficiency
• The pancreatic insufficiency is secondary to acinar maldevelopment
• Half of patients have the metaphyseal dysostosis , most commonly of the femoral head, and most commonly asymptomatic.
• Life expectancy is >35 years.

The original article citation is:
Shwachman, H., Diamond, L.K., Oski, F.A. & Khaw, K.-T. (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. Journal of Pediatrics, 65, 645–663.