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KMID : 0390320160260020037
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Chungbuk Medical Journal
2016 Volume.26 No. 2 p.37 ~ p.42
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A Case of Lhermitte-Duclos Disease in a Child
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Min Kyung-Soo
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Abstract
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Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare hamartomatous lesion involving the cerebellar hemisphere. This disease is known to be associated with Cowden syndrome. Actually, LDD is one of the major criteria for Cowden syndrome. Cowden syndrome is a autosomal dominant syndrome frequently associated with multiple hamartomatous lesion and cancers of the thyroid, breast, or endometrium. Recently Cowden syndrome is known to be caused by germline mutation of the PTEN gene. So holistic approach to the LDD patient is needed beyond the cerebellar lesion itself. These include genetic diagnosis, family counseling, and monitoring cancers. The author reports a case of LDD with review of the literature.
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KEYWORD
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Lhermitte-Duclos Disease, Cowden Syndrome, PTEN
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