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

被引:18
作者
Battistella, PA [1 ]
Peserico, A [1 ]
机构
[1] UNIV PADUA,DEPT DERMATOL,PADUA,ITALY
关键词
PIBI(D)S; trichothiodystrophy; Cockayne syndrome; xeroderma pigmentosum; central nervous system dysmyelination; magnetic resonance imaging; DNA repair defect;
D O I
10.1007/BF00819509
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:110 / 113
页数:4
相关论文
共 28 条
[21]  
SCHMICKEL RD, 1977, PEDIATRICS, V60, P135
[22]   PERIPHERAL AND CENTRAL MYELINOPATHY IN COCKAYNES SYNDROME - REPORT OF 3 SIBLINGS [J].
SMITS, MG ;
GABREELS, FJM ;
RENIER, WO ;
JOOSTEN, EMG ;
GABREELSFESTEN, AAWM ;
TERLAAK, HJ ;
PINCKERS, AJL ;
HOMBERGEN, GCJ ;
NOTERMANS, SLH ;
THIJSSEN, HOM .
NEUROPEDIATRICS, 1982, 13 (03) :161-167
[23]   COCKAYNE SYNDROME - UNUSUAL NEUROPATHOLOGICAL FINDINGS AND REVIEW OF THE LITERATURE [J].
SOFFER, D ;
GROTSKY, HW ;
RAPIN, I ;
SUZUKI, K .
ANNALS OF NEUROLOGY, 1979, 6 (04) :340-348
[24]   DNA-REPAIR INVESTIGATIONS IN 9 ITALIAN PATIENTS AFFECTED BY TRICHOTHIODYSTROPHY [J].
STEFANINI, M ;
GILIANI, S ;
NARDO, T ;
MARINONI, S ;
NAZZARO, V ;
RIZZO, R ;
TREVISAN, G .
MUTATION RESEARCH, 1992, 273 (02) :119-125
[25]   HUMAN XERODERMA-PIGMENTOSUM GROUP-D GENE ENCODES A DNA HELICASE [J].
SUNG, P ;
BAILLY, V ;
WEBER, C ;
THOMPSON, LH ;
PRAKASH, L ;
PRAKASH, S .
NATURE, 1993, 365 (6449) :852-855
[26]   ATAXIA TELANGIECTASIA - HUMAN MUTATION WITH ABNORMAL RADIATION SENSITIVITY [J].
TAYLOR, AMR ;
HARCOURT, SA ;
LEHMANN, AR ;
STEVENS, S ;
BRIDGES, BA .
NATURE, 1975, 258 (5534) :427-429
[27]  
VANNESTE D, 1983, ANN DERMATOL VENER, V110, P409
[28]  
VANNESTE DJ, 1987, 7 WORLD C DERM 1, P223