[A case of Werner syndrome with chromosomal abnormality].
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.
Ochi
Masayuki
M
Department of Geriatric Medicine, Ehime University School of Medicine.
Igase
Michiya
M
Nagai
Ayako
A
Nakamura
Syunpei
S
Nagai
Tokihisa
T
Kawajiri
Masakazu
M
Nakura
Jun
J
Kohara
Katsuhiko
K
Miki
Tetsurou
T
D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D008875:Middle Aged; D014898:Werner Syndrome / Q000235:genetics*