Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.
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.
Distelmaier
Felix
F
Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany. distelmaier@med.uni-duesseldorf.de
Fahsold
Raimund
R
Reifenberger
Guido
G
Messing-Juenger
Martina
M
Schaper
Jörg
J
Schneider
Dominik T
DT
Göbel
Ulrich
U
Mayatepek
Ertan
E
Rosenbaum
Thorsten
T
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
D025542:Neurofibromin 1