Seminars in Pediatric Neurology
Volume 13, Issue 1 , Pages 48-62 , March 2006

Neuroimaging of Phakomatoses

  • Doris D.M. Lin, MD, PhD

      Affiliations

    • Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD
    • Corresponding Author InformationAddress reprint requests to Doris D.M. Lin, MD, PhD, Department of Radiology, Phipps B100, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Baltimore, MD 21287.
  • ,
  • Peter B. Barker, DPhil

      Affiliations

    • Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD
    • Kennedy Krieger Institute, Baltimore, MD.

References 

  1. Korf BR . The phakomatoses . Neuroimaging Clin N Am . 2004;14:139–148
  2. Friedman JM . Epidemiology of neurofibromatosis type 1 . Am J Med Genet . 1999;89:1–6
  3. Cichowski K , Jacks T . NF1 tumor suppressor gene function (narrowing the GAP) . Cell . 2001;104:593–604
  4. World Health Organization Classification of Tumors, Pathology & Geneics . Lyon: IARC Press; 2000;
  5. Friedrich RE , Korf B , Funsterer C , et al.   Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images . Anticancer Res . 2003;23:949–952
  6. Rodriguez D , Young Poussaint T . Neuroimaging findings in neurofibromatosis type 1 and 2 . Neuroimaging Clin N Am . 2004;14:149–170
  7. Evans DG , Baser ME , McGaughran J , et al.   Malignant peripheral nerve sheath tumours in neurofibromatosis 1 . J Med Genet . 2002;39:311–314
  8. Solomon SB , Semih Dogan A , Nicol TL , et al.   Positron emission tomography in the detection and management of sarcomatous transformation in neurofibromatosis . Clin Nucl Med . 2001;26:525–528
  9. Cardona S , Schwarzbach M , Hinz U , et al.   Evaluation of F18-deoxyglucose positron emission tomography (FDG-PET) to assess the nature of neurogenic tumours . Eur J Surg Oncol . 2003;29:536–541
  10. Ferner RE , Lucas JD , O’Doherty MJ , et al.   Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1 . J Neurol Neurosurg Psychiatry . 2000;68:353–357
  11. Friedman JM , Birch PH . Type 1 neurofibromatosis (a descriptive analysis of the disorder in 1,728 patients) . Am J Med Genet . 1997;70:138–143
  12. Balcer LJ , Liu GT , Heller G , et al.   Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas (relation to tumor location by magnetic resonance imaging) . Am J Ophthalmol . 2001;131:442–445
  13. Griffiths PD , Blaser S , Mukonoweshuro W , et al.   Neurofibromatosis bright objects in children with neurofibromatosis type 1 (a proliferative potential?) . Pediatrics . 1999;104:e49
  14. Itoh T , Magnaldi S , White RM , et al.   Neurofibromatosis type 1 (the evolution of deep gray and white matter MR abnormalities) . AJNR Am J Neuroradiol . 1994;15:1513–1519
  15. Van Es S , North KN , McHugh K , et al.   MRI findings in children with neurofibromatosis type 1 (a prospective study) . Pediatr Radiol . 1996;26:478–487
  16. DiPaolo DP , Zimmerman RA , Rorke LB , et al.   Neurofibromatosis type 1 (pathologic substrate of high-signal-intensity foci in the brain) . Radiology . 1995;195:721–724
  17. Kraut MA , Gerring JP , Cooper KL , et al.   Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1 . Am J Med Genet A . 2004;129:113–119
  18. Denckla MB , Hofman K , Mazzocco MM , et al.   Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1 . Am J Med Genet . 1996;67:98–102
  19. North KN , Riccardi V , Samango-Sprouse C , et al.   Cognitive function and academic performance in neurofibromatosis. 1 (consensus statement from the NF1 Cognitive Disorders Task Force) . Neurology . 1997;48:1121–1127
  20. Cutting LE , Koth CW , Burnette CP , et al.   Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1 . J Child Neurol . 2000;15:157–160
  21. Evans DG . Neurofibromatosis type 2 (genetic and clinical features) . Ear Nose Throat J . 1999;78:97–100
  22. Evans DG , Lye R , Neary W , et al.   Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma . J Neurol Neurosurg Psychiatry . 1999;66:764–767
  23. National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. The Consensus Development Panel . Arch Neurol . 1994;51:201–207
  24. Baser ME , Friedman JM , Wallace AJ , et al.   Evaluation of clinical diagnostic criteria for neurofibromatosis 2 . Neurology . 2002;59:1759–1765
  25. Rouleau GA , Merel P , Lutchman M , et al.   Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 . Nature . 1993;363:515–521
  26. Trofatter JA , MacCollin MM , Rutter JL , et al.   A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor . Cell . 1993;72:791–800
  27. Smirniotopoulos JG , Murphy FM . The phakomatoses . AJNR Am J Neuroradiol . 1992;13:725–746
  28. Patronas NJ , Courcoutsakis N , Bromley CM , et al.   Intramedullary and spinal canal tumors in patients with neurofibromatosis 2 (MR imaging findings and correlation with genotype) . Radiology . 2001;218:434–442
  29. Mautner VF , Friedrich RE , von Deimling A , et al.   Malignant peripheral nerve sheath tumours in neurofibromatosis type 1 (MRI supports the diagnosis of malignant plexiform neurofibroma) . Neuroradiology . 2003;45:618–625
  30. Thiele EA . Managing epilepsy in tuberous sclerosis complex . J Child Neurol . 2004;19:680–686
  31. Prather P , de Vries PJ . Behavioral and cognitive aspects of tuberous sclerosis complex . J Child Neurol . 2004;19:666–674
  32. Goh S , Kwiatkowski DJ , Dorer DJ , et al.   Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex . Neurology . 2005;65:235–238
  33. Roach ES , Sparagana SP . Diagnosis of tuberous sclerosis complex . J Child Neurol . 2004;19:643–649
  34. van Slegtenhorst M , de Hoogt R , Hermans C , et al.   Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 . Science . 1997;277:805–808
  35. Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome. 16 Tuberous Sclerosis Consortium . Cell . 1993;75:1305–1315
  36. Narayanan V . Tuberous sclerosis complex (genetics to pathogenesis) . Pediatr Neurol . 2003;29:404–409
  37. van Slegtenhorst M , Nellist M , Nagelkerken B , et al.   Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products . Hum Mol Genet . 1998;7:1053–1057
  38. Christophe C , Sekhara T , Rypens F , et al.   MRI spectrum of cortical malformations in tuberous sclerosis complex . Brain Dev . 2000;22:487–493
  39. DiMario FJ . Brain abnormalities in tuberous sclerosis complex . J Child Neurol . 2004;19:650–657
  40. Griffiths PD , Martland TR . Tuberous sclerosis complex (the role of neuroradiology) . Neuropediatrics . 1997;28:244–252
  41. Shepherd CW , Houser OW , Gomez MR . MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment . AJNR Am J Neuroradiol . 1995;16:149–155
  42. Roach ES , Gomez MR , Northrup H . Tuberous sclerosis complex consensus conference (revised clinical diagnostic criteria) . J Child Neurol . 1998;13:624–628
  43. Iwasaki S , Nakagawa H , Kichikawa K , et al.   MR and CT of tuberous sclerosis (linear abnormalities in the cerebral white matter) . AJNR Am J Neuroradiol . 1990;11:1029–1034
  44. Griffiths PD , Bolton P , Verity C . White matter abnormalities in tuberous sclerosis complex . Acta Radiol . 1998;39:482–486
  45. Christophe C , Bartholome J , Blum D , et al.   Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions . Pediatr Radiol . 1989;19:446–448
  46. Smirniotopoulos JG . Neuroimaging of phakomatoses (Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome) . Neuroimaging Clin N Am . 2004;14:171–183
  47. Griffiths PD , Gardner SA , Smith M , et al.   Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex . AJNR Am J Neuroradiol . 1998;19:1935–1938
  48. Tarasow E , Kubas B , Walecki J . MR proton spectroscopy in patients with CNS involvement in Bourneville’s disease . Med Sci Monit . 2001;7:762–765
  49. Mukonoweshuro W , Wilkinson ID , Griffiths PD . Proton MR spectroscopy of cortical tubers in adults with tuberous sclerosis complex . AJNR Am J Neuroradiol . 2001;22:1920–1925
  50. Yapici Z , Dincer A , Eraksoy M . Proton spectroscopic findings in children with epilepsy owing to tuberous sclerosis complex . J Child Neurol . 2005;20:517–522
  51. Garaci FG , Floris R , Bozzao A , et al.   Increased brain apparent diffusion coefficient in tuberous sclerosis . Radiology . 2004;232:461–465
  52. Karadag D , Mentzel HJ , Gullmar D , et al.   Diffusion tensor imaging in children and adolescents with tuberous sclerosis . Pediatr Radiol . 2005;35:980–983
  53. Jansen FE , Braun KP , van Nieuwenhuizen O , et al.   Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis . Arch Neurol . 2003;60:1580–1584
  54. Sieg KG , Harty JR , Simmons M , et al.   Tc-99m HMPAO SPECT imaging of the central nervous system in tuberous sclerosis . Clin Nucl Med . 1991;16:665–667
  55. Rintahaka PJ , Chugani HT . Clinical role of positron emission tomography in children with tuberous sclerosis complex . J Child Neurol . 1997;12:42–52
  56. Moore GJ , Slovis TL , Chugani HT . Proton magnetic resonance spectroscopy in children with Sturge-Weber syndrome . J Child Neurol . 1998;13:332–335
  57. Kagawa K , Chugani DC , Asano E , et al.   Epilepsy surgery outcome in children with tuberous sclerosis complex evaluated with alpha-[11C]methyl-L-tryptophan positron emission tomography (PET) . J Child Neurol . 2005;20:429–438
  58. Maria BL , Hoang KB , Robertson RL , et al.   Imaging Brain Structure and Function in Sturge-Weber Syndrome . Mt Freedom, NJ: Sturge-Weber Foundation; 1999;
  59. Comi AM . Pathophysiology of Sturge-Weber syndrome . J Child Neurol . 2003;18:509–516
  60. Thomas-Sohl KA , Vaslow DF , Maria BL . Sturge-Weber syndrome (a review) . Pediatr Neurol . 2004;30:303–310
  61. Enjolras O , Riche MC , Merland JJ . Facial port-wine stains and Sturge-Weber syndrome . Pediatrics . 1985;76:48–51
  62. Roach ES . Neurocutaneous syndromes . Pediatr Clin North Am . 1992;39:591–620
  63. Griffiths PD . Sturge-Weber syndrome revisited (the role of neuroradiology) . Neuropediatrics . 1996;27:284–294
  64. Marti-Bonmati L , Menor F , Poyatos C , et al.   Diagnosis of Sturge-Weber syndrome (comparison of the efficacy of CT and MR imaging in 14 cases) . AJR Am J Roentgenol . 1992;158:867–871
  65. Wasenko JJ , Rosenbloom SA , Duchesneau PM , et al.   The Sturge-Weber syndrome (comparison of MR and CT characteristics) . AJNR Am J Neuroradiol . 1990;11:131–134
  66. Bebin EM , Gomez MR . Prognosis in Sturge-Weber disease (comparison of unihemispheric and bihemispheric involvement) . J Child Neurol . 1988;3:181–184
  67. Griffiths PD , Coley SC , Romanowski CA , et al.   Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children . AJNR Am J Neuroradiol . 2003;24:719–723
  68. Reichenbach JR , Barth M , Haacke EM , et al.   High-resolution MR venography at 3.0 Tesla . J Comput Assist Tomogr . 2000;24:949–957
  69. Reichenbach JR , Jonetz-Mentzel L , Fitzek C , et al.   High-resolution blood oxygen-level dependent MR venography (HRBV) (a new technique) . Neuroradiology . 2001;43:364–369
  70. Mentzel HJ , Dieckmann A , Fitzek C , et al.   Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography . Pediatr Radiol . 2005;35:85–90
  71. Griffiths PD , Boodram MB , Blaser S , et al.   99mTechnetium HMPAO imaging in children with the Sturge-Weber syndrome (a study of nine cases with CT and MRI correlation) . Neuroradiology . 1997;39:219–224
  72. Bar-Sever Z , Connolly LP , Barnes PD , et al.   Technetium-99m-HMPAO SPECT in Sturge-Weber syndrome . J Nucl Med . 1996;37:81–83
  73. Reid DE , Maria BL , Drane WE , et al.   Central nervous system perfusion and metabolism abnormalities in Sturge-Weber syndrome . J Child Neurol . 1997;12:218–222
  74. Maria BL , Neufeld JA , Rosainz LC , et al.   Central nervous system structure and function in Sturge-Weber syndrome (evidence of neurologic and radiologic progression) . J Child Neurol . 1998;13:606–618
  75. Lin DD , Barker PB , Kraut MA , et al.   Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging . AJNR Am J Neuroradiol . 2003;24:1912–1915
  76. Breiter SN , Arroyo S , Mathews VP , et al.   Proton MR spectroscopy in patients with seizure disorders . AJNR Am J Neuroradiol . 1994;15:373–384
  77. Lonser RR , Glenn GM , Walther M , et al.   von Hippel-Lindau disease . Lancet . 2003;361:2059–2067
  78. Sims KB . Von Hippel-Lindau disease (gene to bedside) . Curr Opin Neurol . 2001;14:695–703
  79. Maher ER , Iselius L , Yates JR , et al.   Von Hippel-Lindau disease (a genetic study) . J Med Genet . 1991;28:443–447
  80. Latif F , Tory K , Gnarra J , et al.   Identification of the von Hippel-Lindau disease tumor suppressor gene . Science . 1993;260:1317–1320
  81. Barry RE , Krek W . The von Hippel-Lindau tumour suppressor (a multi-faceted inhibitor of tumourigenesis) . Trends Mol Med . 2004;10:466–472
  82. Choyke PL , Glenn GM , Walther MM , et al.   von Hippel-Lindau disease (genetic, clinical, and imaging features) . Radiology . 1995;194:629–642
  83. Slater A , Moore NR , Huson SM . The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease . AJNR Am J Neuroradiol . 2003;24:1570–1574
  84. Wanebo JE , Lonser RR , Glenn GM , et al.   The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease . J Neurosurg . 2003;98:82–94
  85. Choo D , Shotland L , Mastroianni M , et al.   Endolymphatic sac tumors in von Hippel-Lindau disease . J Neurosurg . 2004;100:480–487
  86. Lonser RR , Kim HJ , Butman JA , et al.   Tumors of the endolymphatic sac in von Hippel-Lindau disease . N Engl J Med . 2004;350:2481–2486
  87. Devaney KO , Ferlito A , Rinaldo A . Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone . Acta Otolaryngol . 2003;123:1022–1026
  88. Kim HJ , Butman JA , Brewer C , et al.   Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease (implications for their natural history, diagnosis, and treatment) . J Neurosurg . 2005;102:503–512

 Supported in part by NIH P41 RR15241 and USARA DAMD 170110713.

PII: S1071-9091(06)00015-5

doi: 10.1016/j.spen.2006.01.011

Seminars in Pediatric Neurology
Volume 13, Issue 1 , Pages 48-62 , March 2006