A Rare Case of Cockayne Syndrome-MRI Features

被引：3

作者：

Mundaganur, Praveen ^{[1
]}

机构：

[1] BLDE Med Coll & Res Inst, Dept Radiol, Bijapur 586103, Karnataka, India

来源：

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH | 2012年 / 6卷 / 09期

关键词：

Cockayne syndrome; Radiology; Brain;

D O I：

10.7860/JCDR/2012/4178.2570

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi, retinopathy and mental retardation, which are associ-ated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome.

引用

页码：1582 / 1583

页数：2

共 9 条

[1] MRI IN COCKAYNE SYNDROME TYPE-I [J].

BOLTSHAUSER, E ;

YALCINKAYA, C ;

WICHMANN, W ;

REUTTER, F ;

PRADER, A ;

VALAVANIS, A .

NEURORADIOLOGY, 1989, 31 (03) :276-277

[2]

DEMAEREL P, 1990, J NEURORADIOLOGY, V17, P157

[3] CRANIAL CT AND MRI IN DISEASES WITH DNA-REPAIR DEFECTS [J].

DEMAEREL, P ;

KENDALL, BE ;

KINGSLEY, D .

NEURORADIOLOGY, 1992, 34 (02) :117-121

[4] Xeroderma pigmentosum-Cockayne syndrome complex: A further case [J].

Hamel, BCK ;

Raams, A ;

SchuitemaDijkstra, AR ;

Simons, P ;

vanderBurgt, I ;

Jaspers, NGJ ;

Kleijer, WJ .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (07) :607-610

[5] A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene [J].

Komatsu, A ;

Suzuki, S ;

Inagaki, T ;

Yamashita, K ;

Hashizume, K .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (01) :67-71

[6] DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy [J].

Lehmann, AR .

BIOCHIMIE, 2003, 85 (11) :1101-1111

[7]

Ren Y, 2003, GENES GENET SYST, V78, P93

[8]

Softer D, 1979, ANN NEUROL, V6, P340

[9] COMPARISON OF MRI WHITE MATTER CHANGES WITH NEUROPSYCHOLOGICAL IMPAIRMENT IN COCKAYNE SYNDROME [J].

SUGITA, K ;

TAKANASHI, J ;

ISHII, M ;

NIIMI, H .

PEDIATRIC NEUROLOGY, 1992, 8 (04) :295-298

← 1 →