Neuroirnaging findings in infantile GM1 gangliosidosis

被引:20
作者
Erol, Ilknur [1 ]
Alehan, Fuesun
Pourbagher, M. Ali
Canan, Oguz
Yildirim, S. Vefa
机构
[1] Baskent Univ, Fac Med, Dept Pediat, Div Neurol, TR-06490 Ankara, Turkey
[2] Baskent Univ, Fac Med, Dept Radiol, Adana Teaching & Med Res Ctr, Adana, Turkey
[3] Baskent Univ, Fac Med, Dept Pediat, Adana Teaching & Med Res Ctr,Pediat Cardiol Unit, Adana, Turkey
关键词
GM1; gangliosidosis; MRI; MRS; child;
D O I
10.1016/j.ejpn.2006.08.005
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by severe neurological deterioration ultimately leading to death within the first 2 years of life. We present the brain CT, MRI and MR spectroscopy (MRS) findings in a 17-month-old Turkish girl with infantile GM1 gangliosidosis. Neuroiniaging findings in patients with infantile GM1 gangliosidosis have been reported only in a few cases. In this study, MRS of the thalamus was performed to study the metabolic changes in GM1 gangliosidosis. We showed a a decreased NAA/Cr ration and an increased Cho/Cr ratio. To our knowledge, this is the first report of magnetic resonance spectroscopy findings in type-1 GM1 gangliosidosis. (C) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:245 / 248
页数:4
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