Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden syndrome.

The authors describe the case of a 45-year-old man with progressive gait ataxia and sensorimotor deficits of the upper and lower extremities. The patient had been diagnosed earlier with Lhermitte-Duclos disease (LDD) in the left cerebellar hemisphere and Cowden syndrome (CS). MR imaging studies revealed an intraspinal tumor at C6-C7. Microsurgical gross total resection of the tumor was achieved. Histolopathological examination revealed an intramedullary ependymoma. Postoperatively, neurological deficits gradually improved. This is the first reported case of ependymoma in a patient with LDD and CD. Coexistence of an intraspinal ependymoma with cerebellar LDD and CS appears to be rare, but can lead to treatment failure if missed.