Prolactinoma as the first manifestation of Gardner's syndrome.
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.
Goodin
Geoffrey S
GS
Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
McCarville
M Beth
MB
Thibodeau
Stephen N
SN
Skapek
Stephen X
SX
Khoury
Joseph D
JD
Spunt
Sheri L
SL
D002648:Child; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics*; D017491:Genes, APC; D006801:Humans; D008297:Male; D009154:Mutation; D015175:Prolactinoma / Q000175:diagnosis / Q000235:genetics*