Peripheral stem cell transplantation in a child with amegakaryocytic thrombocytopenia

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.