Marinesco-Sjögren syndrome associated with acute myeloblastic 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.
Fukuda
S
S
Department of Pediatrics, Gifu University, School of Medicine, Tsukasa-machi, Japan. sfuk@cc.gifu-u.ac.jp
Yamada
Y
Y
Nishimura
M
M
Isogai
K
K
Terada
T
T
Iwata
M
M
Shimozawa
N
N
Suzuki
Y
Y
Kondo
N
N
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