Conflict of interest: nil
Diagnosis of cystinosis from a bone marrow aspirate
Article first published online: 22 AUG 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Hematology
Volume 88, Issue 2, page 151, February 2013
How to Cite
Abdulsalam, A. H., Khamis, M. H. and Bain, B. J. (2013), Diagnosis of cystinosis from a bone marrow aspirate. Am. J. Hematol., 88: 151. doi: 10.1002/ajh.23316
- Issue published online: 24 JAN 2013
- Article first published online: 22 AUG 2012
- Accepted manuscript online: 2 AUG 2012 07:44AM EST
- Manuscript Accepted: 18 JUL 2012
- Manuscript Received: 12 JUL 2012
A 4-year-old boy presented with pallor, visual problems and recurrent multiple bilateral renal stones that had been unresponsive to (non-specific) medical treatment. He had seen a number of physicians over a period of two years without a diagnosis being made. He was found to have pancytopenia, the blood count showing: white cell count 3.1 × 109/l, hemoglobin concentration 86 g/l, and platelet count 102 × 109/l.
A bone marrow aspirate was performed to investigate the pancytopenia and revealed numerous clear cystine crystals, apparently free and within macrophages (images). This rare lysosomal storage disease is readily diagnosed from a bone marrow aspirate because of the presence of distinctive non-staining crystals. The crystals have straight edges and, when seen end on, are hexagonal (lower image).