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Cowden Disease with Lhermitte-Duclos Disease: Case Report

Published online by Cambridge University Press:  02 December 2014

Sujit S. Prabhu ,
Kenneth D. Aldape ,
Janet M. Bruner ,
Jeffrey S. Weinberg  and
Jeffrey S. Weinberg
Sujit S. Prabhu
Affiliation:
Department of Neurosurgery, The University of Texas M.D. Anderson Cancer Center, The Brain Tumor Center, Houston, Texas, USA
Kenneth D. Aldape
Affiliation:
Department of Pathology, The University of Texas M.D. Anderson Cancer Center, The Brain Tumor Center, Houston, Texas, USA
Janet M. Bruner
Affiliation:
Department of Pathology, The University of Texas M.D. Anderson Cancer Center, The Brain Tumor Center, Houston, Texas, USA
Jeffrey S. Weinberg
Affiliation:
Department of Pathology, The University of Texas M.D. Anderson Cancer Center, The Brain Tumor Center, Houston, Texas, USA
Jeffrey S. Weinberg
Affiliation:
Department of Pathology, The University of Texas M.D. Anderson Cancer Center, The Brain Tumor Center, Houston, Texas, USA
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Abstract

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Background:

We report a case and review the recent literature describing 36 patients with both Lhermitte-Duclos disease (LDD) and Cowden disease (CD). Lhermitte-Duclos disease, or dysplastic gangliocytoma, is a benign hamartomatous condition involving the cerebellum. The presenting symptoms are usually headaches, gait ataxia, and symptoms of lower cranial nerve involvement. Cowden disease is a rare autosomal dominant disease that usually presents with multiple mucocutaneous lesions. Patients with CD are prone to multiple systemic malignancies, the most common of which is breast cancer. Recent studies have demonstrated an association between LDD and CD.

Methods:

A 44-year-old woman with a previous history of breast cancer, multiple benign skin lesions, Hashimoto's thyroiditis, and chronic headaches presented with exacerbation of her headaches during the previous year. Magnetic resonance imaging of the brain revealed a right cerebellar nonenhancing mass and an acquired tonsillar herniation.

Results:

The patient underwent resection of the right cerebellar mass, posterior fossa decompression, C1 and C2 laminectomies, and a duraplasty. Pathologic examination confirmed LDD. The patient recovered well after surgery, with immediate improvement of her headaches.

Conclusion:

The association between LDD and CD has been under-recognized and under-reported. Recognition of this association has direct clinical relevance, because diligent monitoring of individuals with LDD and CD may lead to the early detection of systemic malignancies.

Type
Other
Information
Canadian Journal of Neurological Sciences , Volume 31 , Issue 4 , November 2004 , pp. 542 - 549
Copyright
Copyright © The Canadian Journal of Neurological 2004

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