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.

The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities. The structures predominantly affected are those of ectodermal origin, including the skin, nervous system, and eyes. The 4 most common phakomatoses are neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease. Imaging of the brain and spine in these disorders plays an important role in diagnosis, as well as determining the extent of involvement and guiding surgical interventions. This article reviews the application of x-ray computed tomography and magnetic resonance imaging to these disorders, as well as that of newer, “functional” imaging techniques such as positron emission tomography, magnetic resonance perfusion imaging, and spectroscopy.

Keywords:  phakomatosis , neurocutaneous , neurofibromatosis , tuberous sclerosis , Sturge-Weber , von Hippel-Lindau , magnetic resonance imaging , spectroscopy , perfusion , computed tomography , brain , spine

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 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

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