Tay's syndrome: MRI

Neuroradiology. 2000 Nov;42(11):849-51. doi: 10.1007/s002340000443.

Abstract

Tay's syndrome is a trichothiodystrophy associated with congenital ichthyosis. We report the findings on MRI and spectroscopy in a young girl with sparse, short, ruffled hair, dry skin and delayed milestones. T2-weighted images showed prominent diffuse confluent increase in signal symmetrically in all the supratentorial white matter. These findings are similar to those in a previously described case, and consistent with dysmyelination. Spectroscopy showed increased myoinositol and decreased choline.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Child, Preschool
  • Demyelinating Diseases / pathology
  • Female
  • Hair Diseases / pathology
  • Humans
  • Ichthyosis / pathology*
  • Intellectual Disability / pathology*
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Syndrome