title: Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Gifu University, School of Medicine, Tsukasa-machi, Japan. sfuk@cc.gifu-u.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: K
authors.initials: K
authors.lastname: Isogai
authors.forename: T
authors.initials: T
authors.lastname: Terada
authors.forename: M
authors.initials: M
authors.lastname: Iwata
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000150:complications*; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed