Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings

被引：19
|
作者：
Zolkipli, Zarazuela
Dahmoush, Hisham
Saunders, Dawn E.
Chong, W. K. Kling
Surtees, Robert
机构：
[1] Great Ormond St Hosp Children NHS Trust, Dept Neurol, London WC1N 3JH, England
[2] Great Ormond St Hosp Children NHS Trust, Dept Neuroradiol, London WC1N 3JH, England
来源：
PEDIATRIC RADIOLOGY | 2006年 / 36卷 / 08期
关键词：
dystonia; 'eye-of-the-tiger' sign; PANK2; mutation; pantothenate kinase associated neurodegeneration; MRI; children;
D O I：
10.1007/s00247-006-0205-3
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C > A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.
引用
收藏
页码：884 / 886
页数：3
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