title: Central nervous system lesions in von Hippel-Lindau syndrome.
abstract: CNS manifestations were studied in 97 gene carriers of von Hippel-Lindau syndrome (HLS). Haemangioblastomas of the CNS were found in 43 patients (44%), 23 females and 20 males. The mean age at diagnosis was 39 years (12-73 years). A total of 93 haemangioblastomas were detected of which 74% were intracranial and 26% were located in the spinal cord; 75% were predominantly cystic and 25% presented as solid lesions. Multiple lesions were found in 42% of HLS-associated haemangioblastomas, but in none of 51 patients with CNS haemangioblastoma without HLS. Haemangioblastoma was the cause of death in 82% of patients with HLS. Although microsurgery has considerably improved post-operative results, multifocal tumour development and recurrence remain a serious problem in the clinical management of HLS gene carriers.
authors.affiliation: Department of Medicine, Albert-Ludwigs-University, Freiburg, Germany.
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
authors.forename: H R
authors.initials: HR
authors.lastname: Eggert
authors.forename: R
authors.initials: R
authors.lastname: Scheremet
authors.forename: M
authors.initials: M
authors.lastname: Schumacher
authors.forename: M
authors.initials: M
authors.lastname: Mohadjer
authors.forename: A K
authors.initials: AK
authors.lastname: Wakhloo
authors.forename: B
authors.initials: B
authors.lastname: Volk
authors.forename: U
authors.initials: U
authors.lastname: Hettmannsperger
authors.forename: P
authors.initials: P
authors.lastname: Riegler
authors.forename: P
authors.initials: P
authors.lastname: Schollmeyer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D001921:Brain / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000473:pathology / Q000556:secondary; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000556:secondary; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012189:Retrospective Studies; D013116:Spinal Cord / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor