Patient with Kabuki syndrome and acute leukemia.

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2-year-old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia.

Treatment of essential thrombocythemia in childhood.

Essential thrombocythemia is a rare myeloproliferative disorder in childhood. For symptomatic patients with platelet counts greater than 1000 x 10(9)/L, cytoreductive treatment is recommended. The authors describe a 5-year-old boy with symptomatic essential thrombocythemia who was treated with anagrelide (Agrylin) for 23 months.