Lhermitte-Duclos disease or 'dysplastic gangliocytoma of the cerebellum' is an unusual hamartomatous overgrowth disorder. It can be familial or, more commonly, sporadic. It has been only recently recognized that this condition may be associated with Cowden syndrome (CS). Over 80% of patients with CS carry germline mutations in PTEN. MIM.158350
Etiology
mutations in PTEN gene with dysregulation of the phosphoinositol-3-kinase/Akt pathway (#14566704#)
Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.