Peripheral stem cell transplantation in a child with amegakaryocytic thrombocytopenia

• Published in: Bone marrow transplantation (Basingstoke) Vol. 26; no. 5; pp. 571 - 572
• Main Authors: YESILIPEK, M. A, HAZAR, V, KÜPESIZ, A, YEGIN, O
• Format: Journal Article
• Language: English
• Published: Basingstoke Nature Publishing Group 01.09.2000
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Bone marrow; Bone marrow transplantation; Bone marrow, stem cells transplantation. Graft versus host reaction; Congenital anomalies; Congenital defects; Female; Graft Survival; Hematopoietic Stem Cell Transplantation; Humans; Infant; Leukocytes (neutrophilic); Medical sciences; Megakaryocytes; Nuclear Family; Platelets; Stem cell transplantation; Stem cells; Thrombocytopenia; Thrombocytopenia - congenital; Thrombocytopenia - etiology; Thrombocytopenia - therapy; Transfusions. Complications. Transfusion reactions. Cell and gene therapy; Transplantation; Transplantation, Homologous; Human; Thrombocytopenia; Congenital; Stem cell; Related donor; Hematopoietic cell; Homograft; Infant; Hemopathy; Congenital disease; Blood; Case study; Platelet; Treatment; Female; Graft
• ISSN: 0268-3369; 1476-5365
• DOI: 10.1038/sj.bmt.1702558

Congenital amegakaryocytic thrombocytopenia (CAMT) is an unusual cause of thrombocytopenia without radial or other congenital anomalies in the newborn. Generalized bone marrow dysfunction developing later in life has been reported. We present a 13-month-old girl who was diagnosed as having congenital amegakaryocytic thrombocytopenia and was successfully treated with allogeneic peripheral stem cell transplantation (PSCT) from her fully matched sibling donor. The neutrophil engraftment was on post transplant day 12 and platelet engraftment was on day 14. Her last hemogram revealed platelets of 168 x 10(9)/l 20 months post transplant.