Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).
Black
L Vandy
LV
Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, Alabama, USA. vblack@peds.uab.edu
Soltau
Thomas
T
Kelly
David R
DR
Berkow
Roger L
RL
D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000188:drug therapy; D017809:Fatal Outcome; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D009154:Mutation; D010198:Pancytopenia / Q000209:etiology*; D013577:Syndrome
D016179:Granulocyte Colony-Stimulating Factor