MARINESCO-SJOGREN-SYNDROME ASSOCIATED WITH ACUTE MYELOBLASTIC-LEUKEMIA

Marinesco-Sjogren syndrome is a rare autosomal recessive disorder char acterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. A high incidence of malignant d isease associated with this syndrome has not so far been reported. We report the case of a 6-year-old girl affected with Marinesco-Sjogren s yndrome, who developed acute myeloblastic leukemia (AML, M2), and whos e karyotype was 46,XX,t(8;21),(q22;q22) in bone marrow blasts. This is the first report of Marinesco-Sjogren syndrome associated with malign ant disorders.