Child's Nervous System

, Volume 23, Issue 3, pp 343–347

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up

Authors

    • Department of General Pediatrics, University Children’s HospitalHeinrich-Heine-University Düsseldorf
  • Raimund Fahsold
    • Gemeinschaftspraxis B. Prager & A. Junge
  • Guido Reifenberger
    • Institute of NeuropathologyHeinrich-Heine-University
  • Martina Messing-Juenger
    • Department of NeurosurgeryHeinrich-Heine-University
  • Jörg Schaper
    • Department of Diagnostic RadiologyHeinrich-Heine-University
  • Dominik T. Schneider
    • Department of Pediatric Oncology, Hematology and ImmunologyHeinrich-Heine-University
  • Ulrich Göbel
    • Department of Pediatric Oncology, Hematology and ImmunologyHeinrich-Heine-University
  • Ertan Mayatepek
    • Department of General Pediatrics, University Children’s HospitalHeinrich-Heine-University Düsseldorf
  • Thorsten Rosenbaum
    • Department of General Pediatrics, University Children’s HospitalHeinrich-Heine-University Düsseldorf
Case Report

DOI: 10.1007/s00381-006-0222-4

Cite this article as:
Distelmaier, F., Fahsold, R., Reifenberger, G. et al. Childs Nerv Syst (2007) 23: 343. doi:10.1007/s00381-006-0222-4

Abstract

Introduction

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.

Case report

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)].

Discussion

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.

Keywords

ChildrenFollow-up MRIGlioblastoma multiformeNeurofibromatosis type INovel NF1 mutation

Copyright information

© Springer-Verlag 2006