Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?. Issue 6 (June 1994)

• Record Type: Journal Article
• Authors: Eng, C; Murday, V; Seal, S; Mohammed, S; Hodgson, S V; Chaudary, M A; Fentiman, I S; Ponder, B A; Eeles, R A
• Is Part Of: Journal of medical genetics. Volume 31:Issue 6(1994)
• Page Start: 458
• Page End: 461
• Publication Date: 1994-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.6.458
• Languages: English
• ISSNs: 1468-6244

Abstract

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.