[Sturge-Weber-Krabbe syndrome. A severe form in a monozygote female twin]

Ann Dermatol Venereol. 1993;120(5):379-82.
[Article in French]

Abstract

We report a severe case of Sturge-Weber syndrome in one of two monozygotic twins. This syndrome included a facial portwine stain over the trigeminal ophthalmic V1 area, and ipsilateral vascular anomalies of the eye and of the pia mater. CT scans and MRI were very informative. The cerebral regional blood flow, studied with SPECT, showed a paradoxically high rate.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Cerebrovascular Circulation
  • Diseases in Twins*
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Sturge-Weber Syndrome / diagnosis
  • Sturge-Weber Syndrome / genetics*
  • Tomography, Emission-Computed, Single-Photon
  • Tomography, X-Ray Computed