RT Journal Article
SR Electronic
T1 Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 458
OP 461
DO 10.1136/jmg.31.6.458
VO 31
IS 6
A1 C Eng
A1 V Murday
A1 S Seal
A1 S Mohammed
A1 S V Hodgson
A1 M A Chaudary
A1 I S Fentiman
A1 B A Ponder
A1 R A Eeles
YR 1994
UL http://jmg.bmj.com/content/31/6/458.abstract
AB 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.