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Abstract

The phakomatoses, or neurocutaneous syndromes, are a group of disorders affecting structures of ectodermal origin

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References

  1. Vezina G, Barkovich A (2012) The phakomatoses. In: Barkovich A, Raybaud C (eds) Pediatric neuroimaging. Lippincott, Williams & Wilkins, Philadelphia, pp 569–636

    Google Scholar 

  2. Korf BR (2004) The phakomatoses. Neuroimaging Clin N Am 14:139–148

    Article  PubMed  Google Scholar 

  3. National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis. Conference statement. Arch Neurol 45:575–578

    Article  Google Scholar 

  4. Tidyman WE, Rauen KA (2009) The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230–236

    Article  PubMed  CAS  Google Scholar 

  5. Pong WW, Gutmann DH (2011) The ecology of brain tumors: lessons learned from neurofibromatosis-1. Oncogene 30:1135–1146

    Article  PubMed  CAS  Google Scholar 

  6. Rodriguez D, Young Poussaint T (2004) Neuroimaging findings in neurofibromatosis type 1 and 2. Neuroimaging Clin N Am 14:149–170

    Article  PubMed  Google Scholar 

  7. Shamji MF, Benoit BG (2007) Syndromic and sporadic pediatric optic pathway gliomas: review of clinical and histopathological differences and treatment implications. Neurosurg Focus 23:E3

    Article  PubMed  Google Scholar 

  8. Huttner AJ, Kieran MW, Yao X et al (2010) Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer 54:890–896

    PubMed  Google Scholar 

  9. Ullrich NJ, Raja AI, Irons MB et al (2007) Brainstem lesions in neurofibromatosis type 1. Neurosurgery 61:762–766

    Article  PubMed  Google Scholar 

  10. Sevick RJ, Barkovich AJ, Edwards MS et al (1992) Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR Am J Roentgen 159:171–175

    Article  CAS  Google Scholar 

  11. DiPaolo DP, Zimmerman RA, Rorke LB et al (1995) Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 195:721–724

    PubMed  CAS  Google Scholar 

  12. Zamboni SL, Loenneker T, Boltshauser E et al (2007) Contribution of diffusion tensor MR imaging in detecting cerebral microstructural changes in adults with neurofibromatosis type 1. AJNR Am J Neuroradiol 28:773–776

    PubMed  CAS  Google Scholar 

  13. Parry DM, Eldridge R, Kaiser-Kupfer MI et al (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450–461

    Article  PubMed  CAS  Google Scholar 

  14. Kotecha RS, Junckerstorff RC, Lee S et al (2011) Pediatric meningioma: current approaches and future direction. J Neurooncol 104:1–10

    Article  PubMed  Google Scholar 

  15. Dancey J (2010) mTOR signaling and drug development in cancer. Nat Rev Clin Oncol 7:209–219

    Article  PubMed  CAS  Google Scholar 

  16. Braffman B, Naidich TP (1994) The phakomatoses: Part I. Neurofibromatosis and tuberous sclerosis. Neuroimaging Clin N Am 4:299–324

    PubMed  CAS  Google Scholar 

  17. Krishnan ML, Commowick O, Jeste SS et al (2010) Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol 42:101–106

    Article  PubMed  Google Scholar 

  18. Simao G, Raybaud C, Chuang S et al (2010) Diffusion tensor imaging of commissural and projection white matter in tuberous sclerosis complex and correlation with tuber load. AJNR Am J Neuroradiol 31:1273–1277

    Article  PubMed  CAS  Google Scholar 

  19. Griffiths PD, Coley SC, Romanowski CA et al (2003) Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children. AJNR Am J Neuroradiol 24:719–723

    PubMed  Google Scholar 

  20. Wu J, Tarabishy B, Hu J et al (2011) Cortical calcification in Sturge-Weber Syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging 34:791–798

    Article  PubMed  Google Scholar 

  21. Hu J, Yu Y, Juhasz C et al (2008) MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. J Magn Reson Imaging 28:300–307

    Article  PubMed  Google Scholar 

  22. Vickers MM, Heng DY (2010) Prognostic and predictive biomarkers in renal cell carcinoma. Target Oncol 5:85–94

    Article  PubMed  Google Scholar 

  23. Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132:307–311

    Article  PubMed  CAS  Google Scholar 

  24. Metry D, Heyer G, Hess C et al (2009) Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics 124:1447–1456

    Article  PubMed  Google Scholar 

  25. Hess CP, Fullerton HJ, Metry DW et al (2010) Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol 31:1980–1986

    Article  PubMed  CAS  Google Scholar 

  26. Burrows PE, Robertson RL, Mulliken JB et al (1998) Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 207:601–607

    PubMed  CAS  Google Scholar 

  27. Poindexter G, Metry DW, Barkovich AJ et al (2007) PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol 36:402–406

    Article  PubMed  Google Scholar 

  28. Gorlin RJ, Sedano HO (1971) The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artic Ser 7:140–148

    PubMed  CAS  Google Scholar 

  29. Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113–125

    PubMed  CAS  Google Scholar 

  30. Bree AF, Shah MR (2011) Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet 155:2091–2097

    Article  Google Scholar 

  31. Garre ML, Cama A, Bagnasco F et al (2009) Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome — a new clinical perspective. Clin Cancer Res 15:2463–2471

    Article  PubMed  Google Scholar 

  32. Kadonaga JN, Barkovich AJ, Edwards MS et al (1992) Neurocutaneous melanosis in association with the Dandy-Walker complex. Pediatr Dermatol 9:37–43

    Article  PubMed  CAS  Google Scholar 

  33. Kim KH, Chung SB, Kong DS et al (2011) Neurocutaneous melanosis associated with Dandy-Walker complex and an intracranial cavernous angioma. Childs Nerv Syst 28:309–3140

    Article  PubMed  Google Scholar 

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Poussaint, T.Y. (2012). Imaging of the Phakomatoses in Children. In: Hodler, J., von Schulthess, G.K., Zollikofer, C.L. (eds) Diseases of the Brain, Head & Neck, Spine 2012–2015. Springer, Milano. https://doi.org/10.1007/978-88-470-2628-5_40

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  • DOI: https://doi.org/10.1007/978-88-470-2628-5_40

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-2627-8

  • Online ISBN: 978-88-470-2628-5

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