Central nervous system dysmyelination in PIBI(D)S syndrome : a further case

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 detec...

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Bibliographic Details
Published in:Child's nervous system 1996-02, Vol.12 (2), p.110-113
Main Authors: BATTISTELLA, P. A, PESERICO, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - physiopathology
Child
Cockayne Syndrome - diagnosis
Complex syndromes
Demyelinating Diseases - complications
Demyelinating Diseases - diagnosis
Demyelinating Diseases - physiopathology
Diagnosis, Differential
DNA Repair
Hair Diseases - complications
Humans
Ichthyosis - complications
Ichthyosis - diagnosis
Intellectual Disability - complications
Intellectual Disability - diagnosis
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Syndrome
Tomography, X-Ray Computed
Wechsler Scales
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Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/BF00819509