Saturday, February 9, 2008

Shwachman-Diamond Syndrome and Bone Marrow

From this website:

Shwachman-Diamond syndrome and bone marrow

Rare autosomal recessive childhood stem cell disorder with peripheral cytopenia (particularly neutropenia), ineffective hematopoiesis, and variable marrow cellularity; also pancreatic insufficiency with pancreatic fatty infiltration

Frequency develop aplastic anemia, myelodysplastic syndrome or acute myeloid leukemia
May be a myelodysplastic disorder from inception (Archives 2002;126:1157)

Laboratory: low serum isoamylase

Case reports: with successful bone marrow transplant (Eur J Pediatr 1999;158:995)

Micro-bone marrow: hypocellular; scattered mild dysplastic changes in all cell lines; may have prominent hematogones (Archives 2000;124:1379)

Micro images: histology and immunohistochemistry; various images

Positive stains: p53

Molecular: mutations in Shwachman Bodian Diamond syndrome gene in 90% (Blood 2004;104:3588)

References: Blood 1999;94:3048, Archives 2002;126:452, OMIM 260400, eMedicine, Wikipedia