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.