Marinesco‐Sjögren syndrome associated with acute mveloblastic leukemia

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

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