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

  • Felix Distelmaier
  • Raimund Fahsold
  • Guido Reifenberger
  • Martina Messing-Juenger
  • Jörg Schaper
  • Dominik T. Schneider
  • Ulrich Göbel
  • Ertan Mayatepek
  • Thorsten Rosenbaum
Case Report

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

Children Follow-up MRI Glioblastoma multiforme Neurofibromatosis type I Novel NF1 mutation 

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Felix Distelmaier
    • 1
  • Raimund Fahsold
    • 2
  • Guido Reifenberger
    • 3
  • Martina Messing-Juenger
    • 4
  • Jörg Schaper
    • 5
  • Dominik T. Schneider
    • 6
  • Ulrich Göbel
    • 6
  • Ertan Mayatepek
    • 1
  • Thorsten Rosenbaum
    • 1
  1. 1.Department of General Pediatrics, University Children’s HospitalHeinrich-Heine-University DüsseldorfDüsseldorfGermany
  2. 2.Gemeinschaftspraxis B. Prager & A. JungeDresdenGermany
  3. 3.Institute of NeuropathologyHeinrich-Heine-UniversityDüsseldorfGermany
  4. 4.Department of NeurosurgeryHeinrich-Heine-UniversityDüsseldorfGermany
  5. 5.Department of Diagnostic RadiologyHeinrich-Heine-UniversityDüsseldorfGermany
  6. 6.Department of Pediatric Oncology, Hematology and ImmunologyHeinrich-Heine-UniversityDüsseldorfGermany

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