Peserico, A., Battistella, P.A. & Bertoli, P. Neuroradiology (1992) 34: 316. doi:10.1007/BF00588190
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.
PIBI(D)S Trichothiodystrophy Central nervous system dysmyelination Magnetic resonance imaging Cockayne syndrome