Advertisement

Pediatric Radiology

, Volume 38, Issue 3, pp 305–310 | Cite as

Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1

  • José Roberto Lopes Ferraz Filho
  • Marcos Pontes Munis
  • Antonio Soares Souza
  • Rafael Angelo Sanches
  • Eni Maria Goloni-Bertollo
  • Erika Cristina Pavarino-Bertelli
Original Article

Abstract

Background

Lesions of the brain denominated as unidentified bright objects (UBOs), which are not included in the diagnostic criteria for neurofibromatosis type 1 (NF1) established by the National Institutes of Health (NIH), have been detected by MRI.

Objective

The purpose of this study was to investigate the possibility of including the presence of UBOs as a diagnostic criterion for NF1 in children.

Materials and methods

The study included 88 children between the ages of 2 and 18 years. The case group consisted of 40 children diagnosed with sporadic or familial NF1 according to the criteria established by the NIH. A control group consisted of 48 individuals referred for routine MRI of the brain for other complaints not related to NF1.

Results

UBOs were identified in 70% of the NF1 patients and in none of the control group. The sensitivity of the presence of UBOs for the diagnosis of NF1 was 70% (CI 53–83%), with a false-negative rate of 30% (CI 27–47%), a specificity of 100% (CI 86–100%) and a false-positive rate of 0% (CI 0–14%).

Conclusion

Faced with the difficulties in diagnosing NF1 in children and the high frequency and specificity of the presence UBOs identified by MRI in our series, we recommend the inclusion of the presence UBOs as a diagnostic criterion for NF1 in children.

Keywords

Neurofibromatosis type 1 MRI Unidentified bright objects Brain Children 

References

  1. 1.
    Rodriguez D, Young Poussaint T (2004) Neuroimaging findings in neurofibromatosis type 1 and 2. Neuroimaging Clin N Am 14:149–170PubMedCrossRefGoogle Scholar
  2. 2.
    Viskochil D (2002) Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 17:562–570PubMedGoogle Scholar
  3. 3.
    Steen RG, Taylor JS, Langston JW et al (2001) Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR 22:810–817PubMedGoogle Scholar
  4. 4.
    Mentzel HJ, Seidel J, Fitzek C et al (2005) Pediatric brain MRI in neurofibromatosis type 1. Eur Radiol 15:814–822PubMedCrossRefGoogle Scholar
  5. 5.
    Pinson S, Wolkenstein P (2005) Neurofibromatosis type 1 or Von Recklinghausen’s disease. Rev Med Interne 26:196–215PubMedCrossRefGoogle Scholar
  6. 6.
    DeBella K, Szudek J, Friedman JM (2000) Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105:608–614PubMedCrossRefGoogle Scholar
  7. 7.
    National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis. Conference statement. Arch Neurol 45:575–578Google Scholar
  8. 8.
    Brown EW, Riccardi VM, Mawad M et al (1987) MR imaging of optic pathways in patients with neurofibromatosis. AJNR 8:1031–1036PubMedGoogle Scholar
  9. 9.
    Gill DS, Hyman SL, Stenberg A et al (2006) Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 31:1048–1056CrossRefGoogle Scholar
  10. 10.
    DiPaolo DP, Zimmerman RA, Rorke LB et al (1995) Neurofibromatosis type 1: pathologic substrate of high signal intensity foci in the brain. Radiology 195:721–724PubMedGoogle Scholar
  11. 11.
    DeBella K, Poskitt K, Szudek J et al (2000) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54:1646–1651PubMedGoogle Scholar
  12. 12.
    Kim BS, Illes J, Kaplan RT et al (2002) Incidental findings on pediatric MR images of the brain. AJNR 23:1674–1677PubMedGoogle Scholar
  13. 13.
    Tognini G, Ferrozzi F, Garlaschi G et al (2005) Brain apparent diffusion coefficient evaluation in pediatric patients with neurofibromatosis type 1. J Comput Assist Tomogr 29:298–304PubMedCrossRefGoogle Scholar
  14. 14.
    Hyman SL, Gill DS, Shores EA et al (2003) Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology 60:1139–1145PubMedGoogle Scholar
  15. 15.
    Gurless RG (2000) Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 55:1067–1068Google Scholar
  16. 16.
    Lynch TM, Gutmann DH (2002) Neurofibromatosis 1. Neurol Clin 20:841–865PubMedCrossRefGoogle Scholar
  17. 17.
    Palmer C, Szudek J, Joe H et al (2004) Analysis of neurofibromatosis 1 (NF1) lesions by body segment. Am J Med Genet A 125:157–161PubMedCrossRefGoogle Scholar
  18. 18.
    Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatosis. Neurology 56:1433–1443PubMedGoogle Scholar
  19. 19.
    Thiagalingam S, Flaherty M, Billson F et al (2004) Neurofibromatosis type 1 and optic pathway gliomas. Ophthalmology 111:568–577PubMedCrossRefGoogle Scholar
  20. 20.
    Kornreich L, Blaser S, Schwarz M et al (2001) Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. AJNR 22:1963–1969PubMedGoogle Scholar
  21. 21.
    Jacquemin C, Bosley TM, Svedberg H (2003) Orbit deformities in craniofacial neurofibromatosis type 1. AJNR 24:1678–1682PubMedGoogle Scholar
  22. 22.
    Nichols JC, Amato JE, Chung SM (2003) Characteristics of Lisch nodules in patients with neurofibromatosis type 1. J Pediatr Ophthalmol Strabismus 40:293–296PubMedGoogle Scholar
  23. 23.
    Young H, Hyman S, North K (2002) Neurofibromatosis type 1: clinical review and exceptions to the rules. J Child Neurol 17:613–621PubMedGoogle Scholar
  24. 24.
    DiMario FJ, Ramsby G (1998) Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol 55:500–505PubMedCrossRefGoogle Scholar
  25. 25.
    Griffiths PD, Blaser S, Mukonoweshuro W et al (1999) Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 104:e49PubMedCrossRefGoogle Scholar
  26. 26.
    Katzman GL, Dagher AP, Patronas NJ (1999) Incidental findings on brain magnetic resonance imaging from 1,000 asymptomatic volunteers. JAMA 282:36–39PubMedCrossRefGoogle Scholar
  27. 27.
    Kraut MA, Gerring JP, Cooper KL et al (2004) Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1. Am J Med Genet A 129:113–119PubMedCrossRefGoogle Scholar
  28. 28.
    Ballesteros MC, Hansen PE, Soila K (1993) MR imaging of the developing human brain. Part 2. Postnatal development. Radiographics 13:611–622PubMedGoogle Scholar
  29. 29.
    Barkovich AJ, Kjos BO, Jackson DE Jr et al (1988) Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Radiology 166(1Pt1):173–180PubMedGoogle Scholar
  30. 30.
    Itoh T, Magnaldi S, White RM et al (1994) Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR 15:1513–1519PubMedGoogle Scholar
  31. 31.
    Mirowitz SA, Sartor K, Gado M (1989) High-intensity basal ganglia lesions on T1-weighted MR images in neurofibromatosis. AJNR 10:1159–1163PubMedGoogle Scholar
  32. 32.
    Terada H, Barkovich AJ, Edwards MS et al (1996) Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1. AJNR 17:755–760PubMedGoogle Scholar
  33. 33.
    Raininko R, Thelin L, Eeg-Olofsson O (2001) Atypical focal non-neoplastic brain changes in neurofibromatosis type 1: mass effect and contrast enhancement. Neuroradiology 43:586–590PubMedCrossRefGoogle Scholar
  34. 34.
    Van Es S, North KN, McHugh K et al (1996) MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 26:478–487PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • José Roberto Lopes Ferraz Filho
    • 1
  • Marcos Pontes Munis
    • 1
  • Antonio Soares Souza
    • 1
  • Rafael Angelo Sanches
    • 1
  • Eni Maria Goloni-Bertollo
    • 2
  • Erika Cristina Pavarino-Bertelli
    • 2
  1. 1.Imaging DepartmentMedical School in São José do Rio PretoSão José do Rio PretoBrazil
  2. 2.Center of Research and Attendance in NeurofibromatosisSão PauloBrazil

Personalised recommendations