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Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1

  • Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) ;
  • An, Young Sil (Department of Nuclear Medicine, Ajou University Hospital, Ajou University School of Medicine) ;
  • Lee, Su Jin (Department of Nuclear Medicine, Ajou University Hospital, Ajou University School of Medicine) ;
  • Choi, Jin Wook (Department of Radiology, Ajou University Hospital, Ajou University School of Medicine) ;
  • Jeong, Seon-Yong (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Kim, Hyon-Ju (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Ko, Jung Min (Department of pediatrics, Seoul National University Hospital)
  • Received : 2012.11.22
  • Accepted : 2012.12.18
  • Published : 2012.12.31

Abstract

Purpose: Neurofibromatosis type 1 (NF1), which is caused by mutations of the NF1 gene, is the most frequent single gene disorder to affect the nervous system. Unidentified bright objects (UBOs) are commonly observed on brain magnetic resonance imaging (MRI) in patients with NF1. However, their clinical and pathologic significance is not well understood. The purpose of this study was to investigate the correlation between UBOs and cerebral glucose metabolism measured by $^{18}F$-2-Fluoro-2-deoxy-D-glucose ($^{18}F$-FDG) positron emission tomography (PET) in Korean patients with NF1. Materials and Methods: Medical records of 75 patients (34 males and 41 females) with NF1 who underwent brain MRI and PET between 2005 and 2011 were evaluated retrospectively. Clinical data including demographics, neurological symptoms, and brain MRI and PET findings, were reviewed. Results: UBOs were detected in the brain MRI scans of 31 patients (41%). The region most frequently affected by UBOs was the basal ganglia. The most frequent brain PET finding was thalamic glucose hypometabolism (45/75, 60%). Of the 31 patients with UBOs, 26 had thalamic glucose hypometabolism on brain PET, but the other 5 had normal brain PET findings. Conversely, of the 45 patients with thalamic glucose hypometabolism on brain PET, 26 showed UBOs on their brain MRI scans, but 19 had normal findings on brain MRI scans. Conclusion: UBOs on brain MRI scans and thalamic glucose hypometabolism on PET appear to be 2 distinctive features of NF1 rather than correlated symptoms. Because the clinical significance of these abnormal imaging findings remains unclear, a longitudinal follow-up study of changes in clinical manifestations and imaging findings is necessary.

Keywords

References

  1. Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988;111:1355-81. https://doi.org/10.1093/brain/111.6.1355
  2. Moharir M, London K, Howman-Giles R, North K. Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. Eur J Nucl Med Mol Imaging 2010;37:1309-17. https://doi.org/10.1007/s00259-010-1386-4
  3. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo- Mason G, Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 1999;104:e49. https://doi.org/10.1542/peds.104.4.e49
  4. Margari L, Presicci A, Ventura P, Maria Bacca S, Iliceto G, Medicamento N, et al. Clinical and instrumental (magnetic resonance imaging [MRI] and multimodal evoked potentials) follow-up of brain lesions in three young patients with neurofibromatosis 1. J Child Neurol 2006;21:1085-90. https://doi.org/10.1177/7010.2006.00124
  5. DiPaolo DP, Zimmerman RA, Rorke LB, Zackai EH, Bilaniuk LT, Yachnis AT. Neurofibromatosis type 1: pathologic substrate of high-signalintensity foci in the brain. Radiology 1995;195:721-4. https://doi.org/10.1148/radiology.195.3.7754001
  6. North KN, Riccardi V, Samango-Sprouse C, Ferner R, Moore B, Legius E, et al. Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 1997;48:1121-7. https://doi.org/10.1212/WNL.48.4.1121
  7. Szudek J, Friedman JM. Unidentified bright objects associated with features of neurofibromatosis 1. Pediatr Neurol 2002;27:123-7. https://doi.org/10.1016/S0887-8994(02)00403-4
  8. North K, Hyman S, Barton B. Cognitive deficits in neurofibromatosis 1. J Child Neurol 2002;17:605-12; discussion 27-9, 46-51. https://doi.org/10.1177/088307380201700811
  9. Buchert R, von Borczyskowski D, Wilke F, Gronowsky M, Friedrich RE, Brenner W, et al. Reduced thalamic 18F-flurodeoxyglucose retention in adults with neurofibromatosis type 1. Nucl Med Commun 2008;29:17-26. https://doi.org/10.1097/MNM.0b013e3282f1bbf5
  10. Balestri P, Lucignani G, Fois A, Magliani L, Calistri L, Grana C, et al. Cerebral glucose metabolism in neurofibromatosis type 1 assessed with [18F]-2-fluoro-2-deoxy-D-glucose and PET. J Neurol Neurosurg Psychiatry 1994;57:1479-83. https://doi.org/10.1136/jnnp.57.12.1479
  11. Bennett MR, Rizvi TA, Karyala S, McKinnon RD, Ratner N. Aberrant growth and differentiation of oligodendrocyte progenitors in neurofibromatosis type 1 mutants. J Neurosci 2003;23:7207-17.
  12. Daginakatte GC, Gianino SM, Zhao NW, Parsadanian AS, Gutmann DH. Increased c-Jun-NH2-kinase signaling in neurofibromatosis-1 heterozygous microglia drives microglia activation and promotes optic glioma proliferation. Cancer Res 2008;68:10358-66. https://doi.org/10.1158/0008-5472.CAN-08-2506
  13. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics 2009;123:124-33. https://doi.org/10.1542/peds.2007-3204
  14. Barbier C, Chabernaud C, Barantin L, Bertrand P, Sembely C, Sirinelli D, et al. Proton MR spectroscopic imaging of basal ganglia and thalamus in neurofibromatosis type 1: correlation with T2 hyperintensities. Neuroradiology 2011;53:141-8.
  15. Moore BD, Slopis JM, Schomer D, Jackson EF, Levy BM. Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology 1996;46:1660-8. https://doi.org/10.1212/WNL.46.6.1660
  16. Goh WH, Khong PL, Leung CS, Wong VC. T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis1: their impact on cognitive function. J Child Neurol 2004;19:853-8. https://doi.org/10.1177/08830738040190110201
  17. North K. Neurofibromatosis type 1. Am J Med Genet 2000;97:119-27. https://doi.org/10.1002/1096-8628(200022)97:2<119::AID-AJMG3>3.0.CO;2-3