title: Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation.
abstract: 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.
authors.affiliation: *Department of Pediatric and Adolescent Medicine/Division of Pediatric Hematology-Oncology †Division of Transplantation, Mayo Clinic, Rochester, MN.
authors.forename: Amulya A N
authors.initials: AA
authors.lastname: Rao
authors.forename: Julia A
authors.initials: JA
authors.lastname: Gourde
authors.forename: Preethi
authors.initials: P
authors.lastname: Marri
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Galardy
authors.forename: Shakila P
authors.initials: SP
authors.lastname: Khan
authors.forename: Vilmarie
authors.initials: V
authors.lastname: Rodriguez
mesh_terms: D016026:Bone Marrow Transplantation / Q000009:adverse effects; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004200:Diseases in Twins / Q000628:therapy*; D005260:Female; D006086:Graft vs Host Disease / Q000209:etiology; D006650:Histocompatibility Testing; D006801:Humans; D013921:Thrombocytopenia / Q000628:therapy*; D019172:Transplantation Conditioning