Download PDF
CC BY-NC-ND 4.0 · J Neurol Surg Rep 2015; 76(01): e160-e163
DOI: 10.1055/s-0035-1554929
Case Report

Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly

Jan Chrastina
1   Department of Neurosurgery MF MU, Faculty Hospital St. Ann's, Brno, Czech Republic
,
Zdenek Novak
1   Department of Neurosurgery MF MU, Faculty Hospital St. Ann's, Brno, Czech Republic
,
Milan Brazdil
1   Department of Neurosurgery MF MU, Faculty Hospital St. Ann's, Brno, Czech Republic
,
Marketa Hermanova
2   Department of Pathological Anatomy MF MU, Faculty Hospital St. Ann's, Brno, Czech Republic
› Author Affiliations
› Further Information
   Permissions and Reprints

Abstract

We present an exceptional case of a patient with hemimegalencephaly and secondary intractable epilepsy treated with vagus nerve stimulation (VNS) and subsequent glioblastoma development in the hemimegalencephalic hemisphere 6 years after surgery. VNS (at age 18 years) led to a 60% reduction of intractable seizures. However, symptoms of intracranial hypertension suddenly occurred 6 years after surgery. A computed tomography scan revealed a brain tumor in the hemimegalencephalic hemisphere. Pathologic examination confirmed glioblastoma multiforme. The genetic background of hemimegalencephaly is discussed here, with attention paid to the available data about the malignant transformation of malformations of cortical development (MCDs). The case points to the need for adequate clinical and radiologic follow-up care for patients with MCDs including hemimegalencephaly.

Keywords

malformations of cortical development - hemimegalencephaly - epilepsy - glioblastoma multiforme


Publication History

Received: 27 October 2014

Accepted: 12 March 2015

Publication Date:
26 June 2015 (online)

© 2015. Thieme. All rights reserved.

Georg Thieme Verlag KG
Stuttgart · New York

 

  • References

  • 1 Kuzniecky RJ, Jackson GD. Magnetic Resonance in Epilepsy. New York, NY: Raven Press; 1995
    Google Scholar
  • 2 Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 2008; 10 (01) 47-62
    CrossrefPubMedGoogle Scholar
  • 3 Di Rocco C, Battaglia D, Pietrini D, Piastra M, Massimi L. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst 2006; 22 (08) 852-866
    CrossrefPubMedGoogle Scholar
  • 4 Manoranjan B, Provias JP. Hemimegalencephaly: a fetal case with neuropathological confirmation and review of the literature. Acta Neuropathol 2010; 120 (01) 117-130
    CrossrefPubMedGoogle Scholar
  • 5 Perry MS, Duchowny M. Hemimegalencephaly. In: Shorvon S, Anderman F, Guerrini R. , eds. The Causes of Epilepsy. Common and Uncommon Causes in Adults and Children. Cambridge, UK: Cambridge University Press; 2011: 289-292
    Google Scholar
  • 6 Wiebe S, Berg AT. Big epilepsy surgery for little people: what's the full story on hemispherectomy?. Neurology 2013; 80 (03) 232-233
    CrossrefPubMedGoogle Scholar
  • 7 Zamponi N, Rychlicki F, Corpaci L, Cesaroni E, Trignani R. Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. Neurosurg Rev 2008; 31 (03) 291-297
    CrossrefPubMedGoogle Scholar
  • 8 Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17 (05) 373-384 ; discussion 384
    CrossrefPubMedGoogle Scholar
  • 9 Flores-Sarnat L, Sarnat HB, Dávila-Gutiérrez G, Alvarez A. Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage. J Child Neurol 2003; 18 (11) 776-785
    CrossrefPubMedGoogle Scholar
  • 10 Lee JH, Huynh M, Silhavy JL. , et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012; 44 (08) 941-945
    CrossrefPubMedGoogle Scholar
  • 11 Battaglia D, Di Rocco C, Iuvone L. , et al. Neuro-cognitive development and epilepsy outcome in children with surgically treated hemimegalencephaly. Neuropediatrics 1999; 30 (06) 307-313
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Oikawa T, Murata T, Tatewaki Y. et al. Can diffusion tensor imaging (DTI) be a useful tool in evaluating hemimegalencephaly? Poster C-0962. Poster presented at: European Congress of Radiology 2014. Available at: http://dx.doi.org/10.1594/ecr2014/C-0962
    CrossrefPubMedGoogle Scholar
  • 13 Lindhurst MJ, Sapp JC, Teer JK. , et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011; 365 (07) 611-619
    CrossrefPubMedGoogle Scholar
  • 14 Baek ST, Gibbs EM, Gleeson JG, Mathern GW. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr Opin Neurol 2013; 26 (02) 122-127
    CrossrefPubMedGoogle Scholar
  • 15 Aronica E, Boer K, Baybis M, Yu J, Crino P. Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly. Acta Neuropathol 2007; 114 (03) 287-293
    CrossrefPubMedGoogle Scholar
  • 16 Lim KC, Crino PB. Focal malformations of cortical development: new vistas for molecular pathogenesis. Neuroscience 2013; 252: 262-276
    CrossrefPubMedGoogle Scholar
  • 17 Stefanaki K, Alexiou GA, Stefanaki C, Prodromou N. Tumors of central and peripheral nervous system associated with inherited genetic syndromes. Pediatr Neurosurg 2012; 48 (05) 271-285
    CrossrefPubMedGoogle Scholar
  • 18 Antonelli A, Chiaretti A, Amendola T, Piastra M, Di Rocco C, Aloe L. Nerve growth factor and brain-derived neurotrophic factor in human paediatric hemimegalencephaly. Neuropediatrics 2004; 35 (01) 39-44
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Brown MC, Staniszewska I, Lazarovici P, Tuszynski GP, Del Valle L, Marcinkiewicz C. Regulatory effect of nerve growth factor in alpha9beta1 integrin-dependent progression of glioblastoma. Neuro Oncol 2008; 10 (06) 968-980
    CrossrefPubMedGoogle Scholar
  • 20 Engebraaten O, Bjerkvig R, Pedersen PH, Laerum OD. Effects of EGF, bFGF, NGF and PDGF(bb) on cell proliferative, migratory and invasive capacities of human brain-tumour biopsies in vitro. Int J Cancer 1993; 53 (02) 209-214
    CrossrefPubMedGoogle Scholar
  • 21 Almairac F, Frenay M, Paquis P. Genetic diseases and glioblastomas [in French]. Neurochirurgie 2010; 56 (06) 455-458
    PubMedGoogle Scholar
  • 22 Padmalatha C, Harruff RC, Ganick D, Hafez GB. Glioblastoma multiforme with tuberous sclerosis. Report of a case. Arch Pathol Lab Med 1980; 104 (12) 649-650
    PubMedGoogle Scholar
  • 23 Matsumura H, Takimoto H, Shimada N, Hirata M, Ohnishi T, Hayakawa T. Glioblastoma following radiotherapy in a patient with tuberous sclerosis. Neurol Med Chir (Tokyo) 1998; 38 (05) 287-291
    CrossrefPubMedGoogle Scholar