Intramedullary ependymoma associated with Lhermitte–Duclos disease and Cowden syndrome

Farhadi, Mohammad R.; Rittierodt, Marion; Stan, Alexandru; Capelle, Hans-Holger; Tham-Mücke, Barbara; Krauss, Joachim K.

doi:10.1016/j.clineuro.2007.04.010

« Previous Next »Clinical Neurology and Neurosurgery
Volume 109, Issue 8 , Pages 692-697, October 2007

Intramedullary ependymoma associated with Lhermitte–Duclos disease and Cowden syndrome

Mohammad R. Farhadi
- Department of Neurosurgery, Medical School Hannover, MHH, Carl-Neuberg street 1, 30625 Hannover, Germany
Marion Rittierodt
- Department of Neurosurgery, Medical School Hannover, MHH, Carl-Neuberg street 1, 30625 Hannover, Germany
Alexandru Stan
- Institute of Pathology, Medical School Hannover, MHH, Hannover, Germany
Hans-Holger Capelle
- Department of Neurosurgery, Medical School Hannover, MHH, Carl-Neuberg street 1, 30625 Hannover, Germany
Barbara Tham-Mücke
- Reising-Ackermann Human Genetic Laboratory, Leipzig, Germany
Joachim K. Krauss
- Department of Neurosurgery, Medical School Hannover, MHH, Carl-Neuberg street 1, 30625 Hannover, Germany
- Corresponding author. Tel.: +49 511 532 6652; fax: +49 511 5325864.

Received 7 January 2007; received in revised form 16 April 2007; accepted 19 April 2007.

Abstract

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.

Keywords: Lhermitte–Duclos disease, Cowden syndrome, Ependymoma, Spinal tumor