title: Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.
abstract: This is a report of new case of PIBI(D)S, a rare autosomal recessive syndrome characterized by photosensitivity, ichthyosis, brittle sulfur-deficient hair (trichothiodystrophy), impaired intelligence, decreased fertility, and short stature. Bilateral cataract and axial osteosclerosis were also detected. Magnetic resonance imaging (MRI) revealed diffuse central nervous system dysmyelination, a finding also described in the only three other reported cases in which MRI was performed. The paper also considers certain similarities in neurological signs and neuroradiological findings between PIBI(D)S, Cockayne syndrome, and xeroderma pigmentosum--all of which are inherited diseases characterized by photosensitivity and DNA repair defect.
authors.affiliation: Department of Pediatrics, University of Padua, Italy.
authors.forename: P A
authors.initials: PA
authors.lastname: Battistella
authors.forename: A
authors.initials: A
authors.lastname: Peserico
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis; D004260:DNA Repair; D003711:Demyelinating Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology*; D003937:Diagnosis, Differential; D006201:Hair Diseases / Q000150:complications*; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000175:diagnosis; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014888:Wechsler Scales