title: Prolactinoma as the first manifestation of Gardner's syndrome.
abstract: Familial adenomatous polyposis (FAP) is an inherited condition causing numerous adenomatous colorectal polyps and a markedly elevated risk of colon cancer. FAP may be associated with various extracolonic manifestations such as desmoid fibromatosis and osteomas (termed Gardner's syndrome) and brain tumors, usually medulloblastoma or glioma [termed Brain Tumor Polyposis (BTP) syndrome type 2]. We describe a pediatric patient who initially presented with prolactinoma and later was found to have Gardner's syndrome. A germline mutation of the APC (adenomatous polyposis coli) gene was identified. Our case illustrates the association between prolactinoma and FAP, which may represent a rare subtype of Gardner's and BTP syndromes.
authors.affiliation: Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: Geoffrey S
authors.initials: GS
authors.lastname: Goodin
authors.forename: M Beth
authors.initials: MB
authors.lastname: McCarville
authors.forename: Stephen N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: Stephen X
authors.initials: SX
authors.lastname: Skapek
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Khoury
authors.forename: Sheri L
authors.initials: SL
authors.lastname: Spunt
mesh_terms: D002648:Child; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics*; D017491:Genes, APC; D006801:Humans; D008297:Male; D009154:Mutation; D015175:Prolactinoma / Q000175:diagnosis / Q000235:genetics*