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Introduction Dysplastic gangliocytoma of the cerebellum (Lher-mitte-Duclos Disease) is a rare lesion that unilaterally enlarges the cerebellum, but maintains its cortical foliar architecture. Cowden syndrome (CS) is a multi-system hamartomatous overgrowth of tissues of all three embryonic origins. About 80% of patients with CS have an identifiable germ line mutation in the phosphatase and tensin homolog (PTEN) gene. Case report We report a case of Lhermitte-Duclos disease as part of Cowden syndrome diagnosed at post-mortem examination of a 42-year-old woman who died of bilateral bronchopneumonia. As a result of this diagnosis, her family was referred for genetic counselling and testing for PTEN gene was recommended. Aim and discussion Cowden syndrome patients are at increased risk of developing breast, thyroid, and endometrial cancers. Genetic testing for PTEN gene is widely available. Recognition of this syndrome at post-mortem examination offers family members the chance of PTEN testing, regular screening and early detection of cancer. |
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