MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

Neuroradiology. 1992;34(4):316-7. doi: 10.1007/BF00588190.

Abstract

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia / pathology
  • Brain / pathology*
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / genetics*
  • Cerebral Ventricles / pathology
  • Child
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging*
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / genetics*