Summary
Objective and importance:
Meningioma arising in Werner syndrome has been described previously, but never in
association with a mutation analysis. We present the first reported case of meningioma
in a patient with Werner syndrome and a confirmed major mutation. In addition, we
review 27 previously reported patients with meningioma associated with Werner syndrome.
Clinical presentation:
We report a 56-year-old Japanese woman with Werner syndrome and a meningioma. She
presented with pain and redness of the right eye and a headache. Cranial CT revealed
a tumor the in right frontal and temporal lobes. Pathological examination after surgical
removal confirmed meningioma. She displayed typical features of Werner syndrome including
juvenile cataract, short stature and low weight, a bird-like face, a hoarse voice,
and dry, atrophic, pigmented skin.
Investigation:
To confirm the clinical diagnosis, a mutation analysis based on the mutant allele-specific
amplification (MASA) method was performed.
Conclusion:
Mutation analysis of peripheral blood leukocyte DNA showed amplification of the mutation
4/4. There were 22 patients with Werner syndrome and meningioma reported from Japan
and 5 from outside Japan. There was only one malignant meningioma. Meningiomas in
Werner syndrome have a higher frequency in males and occur at a younger age than those
of the general population.
Keywords
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Article info
Publication history
Accepted:
December 8,
2003
Received:
June 10,
2003
Identification
Copyright
© 2005 Elsevier Ltd. Published by Elsevier Inc. All rights reserved.
