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Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation.

Rao, Amulya A N; Gourde, Julia A; Marri, Preethi; Galardy, Paul J; Khan, Shakila P; Rodriguez, Vilmarie.
J Pediatr Hematol Oncol; 37(4): 304-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25171451
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder that presents with thrombocytopenia in infancy and evolves into bone marrow failure over time. Allogeneic hematopoietic stem cell transplant remains the only curative treatment option. We report our experience with identical twin sisters diagnosed with CAMT and treated successfully with matched unrelated donor bone marrow transplants. Before the transplant, 1 twin developed pancytopenia, whereas the other had a relatively benign clinical course. Choice of conditioning regimens was based on their pretransplant bone marrow cellularity and presence or absence of panyhypoplasia. Both twins tolerated the procedure well with no significant complications.
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