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 CASE REPORT
Year : 2020  |  Volume : 68  |  Issue : 2  |  Page : 483--486

Meningioma in a Patient with Werner Syndrome


1 Department of Neurosurgery and Gamma Knife, P D Hinduja Hospital and MRC, Mahim, Mumbai, Maharashtra, India
2 Royal Manchester Children's Hospital, Manchester, United Kingdom

Correspondence Address:
Basant K Misra
Department of Neurosurgery, P D Hinduja Hospital and MRC, Veer Savarkar Marg, Mahim, Mumbai - 400 016, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.284350

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Werner syndrome (WS), also known as adult progeria, is extremely rare, with about 1300 known cases in the world, with over 1000 of these in Japan. It occurs due to loss of function mutations in the WRN gene located on chromosome 8p12. WS is characterized by premature aging and increased risk of neoplasms, with meningiomas being the commonest intracranial tumor. We report the case of a 39-year-old male patient, who presented with occasional numbness in right arm for three weeks. The patient had developed signs and symptoms of premature aging which started in his adolescence. MRI brain done was suggestive of left frontal convexity extra-axial lesion, suggestive of meningioma. Genetic analysis performed has identified an autosomal recessive, apparently homozygous c.3383+3A>G mutation, a mutation not previously reported. As per the existing literature, this is the index case of meningioma in Werner syndrome from India. A new mutation has been identified.






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Online since 20th March '04
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