Meningioma in a patient with Werner syndrome

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.