caa a22 4500 463179927 CHVBK 20180406164836.0 cr unu---uuuuu 170326e20070301xx s 000 0 eng 10.1007/s00381-006-0222-4 doi (NATIONALLICENCE)springer-10.1007/s00381-006-0222-4 Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up [Elektronische Daten] [Felix Distelmaier, Raimund Fahsold, Guido Reifenberger, Martina Messing-Juenger, Jörg Schaper, Dominik Schneider, Ulrich Göbel, Ertan Mayatepek, Thorsten Rosenbaum] 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 3days 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. Springer-Verlag, 2006 Children nationallicence Follow-up MRI nationallicence Glioblastoma multiforme nationallicence Neurofibromatosis type I nationallicence Novel NF1 mutation nationallicence Distelmaier Felix Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Fahsold Raimund Gemeinschaftspraxis B. Prager & A. Junge, Dresden, Germany aut Reifenberger Guido Institute of Neuropathology, Heinrich-Heine-University, Düsseldorf, Germany aut Messing-Juenger Martina Department of Neurosurgery, Heinrich-Heine-University, Düsseldorf, Germany aut Schaper Jörg Department of Diagnostic Radiology, Heinrich-Heine-University, Düsseldorf, Germany aut Schneider Dominik Department of Pediatric Oncology, Hematology and Immunology, Heinrich-Heine-University, Düsseldorf, Germany aut Göbel Ulrich Department of Pediatric Oncology, Hematology and Immunology, Heinrich-Heine-University, Düsseldorf, Germany aut Mayatepek Ertan Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Rosenbaum Thorsten Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Child's Nervous System Springer-Verlag 23/3(2007-03-01), 343-347 0256-7040 23:3<343 2007 23 381 https://doi.org/10.1007/s00381-006-0222-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00381-006-0222-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Distelmaier Felix Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Fahsold Raimund Gemeinschaftspraxis B. Prager & A. Junge, Dresden, Germany aut NATIONALLICENCE 700 1- Reifenberger Guido Institute of Neuropathology, Heinrich-Heine-University, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Messing-Juenger Martina Department of Neurosurgery, Heinrich-Heine-University, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Schaper Jörg Department of Diagnostic Radiology, Heinrich-Heine-University, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Schneider Dominik Department of Pediatric Oncology, Hematology and Immunology, Heinrich-Heine-University, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Göbel Ulrich Department of Pediatric Oncology, Hematology and Immunology, Heinrich-Heine-University, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Mayatepek Ertan Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Rosenbaum Thorsten Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 773 0- Child's Nervous System Springer-Verlag 23/3(2007-03-01), 343-347 0256-7040 23:3<343 2007 23 381 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer