title: Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.
abstract: BACKGROUND
  Neurofibromatosis type I (NF1) is one of the most prevalent genetic diseases of the nervous system. Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population.
  
  
  METHODS
  Here, we present a 9-year-old girl with clinical stigmata of NF1 and a rapidly evolving glioblastoma multiforme. Molecular genetic analysis uncovered a novel missense mutation in Exon 32 of the NF1 gene [c.6032C>A(p.Ala2011Glu)].
  
  
  CONCLUSIONS
  The girl's death 3 days after diagnosis of the brain tumor exemplifies that NF1 still is a life-threatening disease despite its generally benign course in most patients. However, it remains questionable if a fatal course as reported here can be prevented by routine MRI screening.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany. distelmaier@med.uni-duesseldorf.de
authors.forename: Felix
authors.initials: F
authors.lastname: Distelmaier
authors.forename: Raimund
authors.initials: R
authors.lastname: Fahsold
authors.forename: Guido
authors.initials: G
authors.lastname: Reifenberger
authors.forename: Martina
authors.initials: M
authors.lastname: Messing-Juenger
authors.forename: Jörg
authors.initials: J
authors.lastname: Schaper
authors.forename: Dominik T
authors.initials: DT
authors.lastname: Schneider
authors.forename: Ulrich
authors.initials: U
authors.lastname: Göbel
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Thorsten
authors.initials: T
authors.lastname: Rosenbaum
mesh_terms: D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002648:Child; D017809:Fatal Outcome; D005260:Female; D005909:Glioblastoma / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics*; D010347:Patient Care Planning; D020641:Polymorphism, Single Nucleotide
chemical_list: D025542:Neurofibromin 1