title: [A case of Werner syndrome with chromosomal abnormality].
abstract: A 52-year-old woman with diabetes mellitus (DM) complained of weakness of the arms and legs. She was referred to our hospital in November 2002 because of anemia, thyroid tumor and meningioma including DM. She was short in stature, juvenile bilateral cataract, intractable skin ulcers, clavus on the sole of her foot, a bird-like face and high-pitched voice. Typical physical features led to the final diagnosis of Werner's syndrome. Although the myelogram revealed no abnormal findings except erythroid hypoplasia, cytogenetic analysis of bone marrow cells showed deletion of chromosome 20 in 10% of the analyzed cells, which suggested the possibility of that myelodysplastic syndrome (MDS) or acute myeloblastic leukemia (AML) could occur. She had a thyroidectomy because both lobes of the thyroid gland were enlarged and caused hoarseness, In addition, it is common knowledge that the goiter could become malignant. We need to follow her carefully because she might be vulnerable to malignant disease, including leukemia and malignant meningioma.
authors.affiliation: Department of Geriatric Medicine, Ehime University School of Medicine.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Ochi
authors.forename: Michiya
authors.initials: M
authors.lastname: Igase
authors.forename: Ayako
authors.initials: A
authors.lastname: Nagai
authors.forename: Syunpei
authors.initials: S
authors.lastname: Nakamura
authors.forename: Tokihisa
authors.initials: T
authors.lastname: Nagai
authors.forename: Masakazu
authors.initials: M
authors.lastname: Kawajiri
authors.forename: Jun
authors.initials: J
authors.lastname: Nakura
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Kohara
authors.forename: Tetsurou
authors.initials: T
authors.lastname: Miki
mesh_terms: D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D008875:Middle Aged; D014898:Werner Syndrome / Q000235:genetics*