Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases

被引：4
作者：
Omezzine, S. Jerbi
Ben Ameur, H.
Bousoffara, R.
Ayedi, A.
Hamza, H. A.
Sfar, M. T.
机构：
来源：
JOURNAL DE RADIOLOGIE | 2008年 / 89卷 / 7-8期
关键词：
leukoencephalopathy; cysts; subcortical; Megalencephaly; MRI;
D O I：
10.1016/S0221-0363(08)73877-0
中图分类号：
R8 [特种医学]; R445 [影像诊断学];
学科分类号：
1002 ; 100207 ; 1009 ;
摘要：
Megalencephalic leukoencephalopathy with subcortical cysts or Van der Knapp disease is a rare entity that has recently been identified. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. The culprit MLC1 gene is located on chromosome 22. MRI provides valuable data for diagnosis characterized by diffuse white matter lesions with subcortical cysts. We report four cases of megalencephalic leukoencephalopathy with subcortical cysts from two different families.
引用
收藏
页码：891 / 894
页数：4
相关论文
共 14 条
[1]  
Anand K. S., 2007, J INDIAN ACAD CLIN I, V8, P250, DOI [10.1177/08830738030180091201, DOI 10.1177/08830738030180091201]
[2]  
Chandrashekar HS, 2003, NEUROL INDIA, V51, P525
[3]   Leukodystrophy in children: A pictorial review of MR imaging features [J].
Cheon, JE ;
Kim, IO ;
Hwang, YS ;
Kim, KJ ;
Wang, KC ;
Cho, BK ;
Chi, JG ;
Kim, CJ ;
Kim, WS ;
Yeon, KM .
RADIOGRAPHICS, 2002, 22 (03) :461-476
[4]   Epileptic encephalopathy with bilateral continuous spike-waves during slow sleep in a child with vacuolating megalencephalic leukoencephalopathy [J].
Jocic-Jakubi, Bosanka ;
Martinovic, Zarko ;
Kozic, Dusko .
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2007, 11 (03) :181-184
[5]   SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts [J].
Kiriyama, Takao ;
Tanizawa, Emi ;
Hirano, Makito ;
Shinkai, Takayuki ;
Asai, Hirohide ;
Furiya, Yoshiko ;
Ueno, Satoshi .
CLINICAL NEUROLOGY AND NEUROSURGERY, 2007, 109 (06) :526-530
[6]   Megalencephalic leucoencephalopathy with subcortical cysts:: a study of a Lebanese family and a review of the literature. [J].
Koussa, S ;
Roukoz, H ;
Rizk, T ;
Mégarbané, A .
REVUE NEUROLOGIQUE, 2005, 161 (02) :183-191
[7]  
Krishnan KH, 2005, INDIAN PEDIATR, V42, P60
[8]   MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease [J].
Morita, Hideyuki ;
Imamura, Atsushi ;
Matsuo, Naoki ;
Tatebayashi, Koji ;
Omoya, Kentaro ;
Takahashi, Yukitoshi ;
Tsujino, Seiichi .
BRAIN & DEVELOPMENT, 2006, 28 (07) :466-469
[9]   Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) [J].
Neumaier-Probst, E ;
Harting, I ;
Seitz, A ;
Ding, C ;
Kölker, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (06) :869-876
[10]  
Panicker J, 2007, NEUROL INDIA, V55, P399
12