Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
Print ISSN : 0300-9173
A case of Werner syndrome with chromosomal abnormality
Masayuki OchiMichiya IgaseAyako NagaiSyunpei NakamuraTokihisa NagaiMasakazu KawajiriJun NakuraKatsuhiko KoharaTetsurou Miki
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2006 Volume 43 Issue 5 Pages 639-642

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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.

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