Peserico A, Battistella P A, Bertoli P
Istituto di Clinica Dermosifilopatica, Università di Padova, Italy.
Neuroradiology. 1992;34(4):316-7. doi: 10.1007/BF00588190.
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.