The phakomatoses: Part II. von Hippel-Lindau disease, Sturge-Weber syndrome, and less common conditions

Neuroimaging Clin N Am. 1994 May;4(2):325-48.

Abstract

The phakomatoses appear to represent a group of disorders characterized, in part, by the common features of neuroectodermal mal-development, undecided differentiation of cells, and disturbed patterns of cell migration. With progress in genetics and cell biology, the precise deficits in the genome and the specific biochemical abnormalities associated with these defects will be elucidated. It is expected that the apparent diversity of these lesions will then be understood as a coherent series of missteps along the common pathway of normal growth and development.

Publication types

  • Review

MeSH terms

  • Adult
  • Brain / pathology
  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Child
  • Humans
  • Infant
  • Intracranial Arteriovenous Malformations / diagnosis*
  • Intracranial Arteriovenous Malformations / genetics
  • Magnetic Resonance Imaging*
  • Sturge-Weber Syndrome / diagnosis*
  • Sturge-Weber Syndrome / genetics
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics