Neuroradiology

, Volume 34, Issue 4, pp 316–317

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

Authors

  • A. Peserico
    • Istituto di Clinica DermosifilopaticaUniversità di Padova
  • P. A. Battistella
    • Dipartimento di PediatriaUniversità di Padova
  • P. Bertoli
    • Istituto di Clinica DermosifilopaticaUniversità di Padova
Diagnostic Neuroradiology

DOI: 10.1007/BF00588190

Cite this article as:
Peserico, A., Battistella, P.A. & Bertoli, P. Neuroradiology (1992) 34: 316. doi:10.1007/BF00588190

Summary

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensivity, 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.

Key words

PIBI(D)STrichothiodystrophyCentral nervous system dysmyelinationMagnetic resonance imagingCockayne syndrome

Copyright information

© Springer-Verlag 1992