Neuroradiology

, Volume 34, Issue 4, pp 316–317

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

  • A. Peserico
  • P. A. Battistella
  • P. Bertoli
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)S Trichothiodystrophy Central nervous system dysmyelination Magnetic resonance imaging Cockayne syndrome 

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • A. Peserico
    • 1
  • P. A. Battistella
    • 2
  • P. Bertoli
    • 1
  1. 1.Istituto di Clinica DermosifilopaticaUniversità di PadovaPaduaItaly
  2. 2.Dipartimento di PediatriaUniversità di PadovaPaduaItaly

Personalised recommendations