| Literature DB >> 32190447 |
Nikhil K Murthy1, Matthew B Potts1, Babak Jahromi1.
Abstract
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition that is associated with fibrofolliculomas, pulmonary cysts, renal cysts, and renal cancer. There have been few reports in the literature of intracranial vascular pathology in patients with BHD syndrome, and intracranial vascular pathology is currently not a part of the diagnostic criteria. Given the rarity of this disease, there has not been enough evidence for a definitive link between BHD syndrome and intracranial vascular abnormalities. We present a case of a patient with BHD syndrome and multiple cerebral aneurysms.Entities:
Keywords: birt-hogg-dube syndrome; cerebral aneurysm; flcn; folliculin; matrix metalloproteinase-9; mmp-9
Year: 2020 PMID: 32190447 PMCID: PMC7058392 DOI: 10.7759/cureus.6884
Source DB: PubMed Journal: Cureus ISSN: 2168-8184