Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? |
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| Authors: | C Eng V Murday S Seal S Mohammed S V Hodgson M A Chaudary I S Fentiman B A Ponder R A Eeles |
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| Affiliation: | Department of Pathology, University of Cambridge, UK. |
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| Abstract: | Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lhermitte-Duclos disease. Karyotyping performed on the peripheral lymphocytes of the proband and her affected mother showed a 46,XX complement. Single strand conformational polymorphism analysis failed to show any germline p53 mutations as a cause of the syndrome in this family. |
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