Schwachman-Diamond

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Shwachmann<strong>Diamond</strong> Syndrome • Rare autosomal recessive disorder that presents in infancy with bone marrow failure and pancreatic insufficiency • Present with: – Diarrhea with foul smelling stools – Growth Failure – Recurrent Infections
Shwachmann<strong>Diamond</strong> Syndrome • Diagnostic Criteria: – Exocrine Pancreatic Insufficiency • Low Serum Trypsinogen • Elevated Fecal Fat Excretion and radiologic imaging demonstrating a small or fatty pancreas • Low levels of pancreatic enzymes following pancreatic stimulation – Bone Marrow Failure: • Persistent neutropenia at least on 3 occasions • Anemia • Thrombocytopenia (
Page 1 and 2: Morning Report August 5 th , 2009
Page 3 and 4: Failure To Thrive Classification
Page 5 and 6: History • HPI - 10 wk old ex 32 w
Page 7 and 8: Differential Diagnosis • Inadequa
Page 9: Physical Exam • 36.4 HR 162 RR 22
Page 13 and 14: 144 110 14 5.2 21 0.3 5 4.3 2.5 0.7
Page 15 and 16: • HIV: Nonreactive More Labs
Page 17: Summary • 10 week old infant with
Page 21 and 22: Goals and Objectives • Review Fai

Schwachman-Diamond

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