MRI findings in Leigh syndrome with SURF-1 gene 604G→C mutations
- VernacularTitle:SURF-1基因604G→C突变所致Leigh综合征的MRI表现
- Author:
Li GUO
;
Sheng XIE
;
Jiangxi XIAO
;
Zhaoyue QI
;
Yanling YANG
;
Xuexiang JIANG
- Publication Type:Journal Article
- Keywords:
Leigh disease;
Gene;
Mutation;
Magnetic resonance imaging
- From:
Chinese Journal of Radiology
2008;42(12):1246-1248
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the MR phenotype of Leigh syndrome (IS) with SURF-1 gene mutation.Methods The cranial MR examination of eight patients with the diagnosis of Leigh syndrome associated with SURF-1 gene 604G→C mutations were reviewed retrospectively.Comparison was made with typical LS patients' MRI.Observation was made regarding lesions in basal ganglia,subthalamic nuclei,substantia nigra,and dentate nuclei,involvement of white matter,and brain atrophy.Results The MR findings of LS in the study included the following:3 cases exhibited involvement of brain stem and subthalamic nuclei,2 of these 3 cases also had basal ganglia abnormalities.3 cases showed abnormality in the white matter without any involvement of the deep nuclei.Cerebral atrophy was observed in all cases in the group,and was the only finding in two cases.Conclusion The imaging findings in LS with SURF-1 604G→C gene mutation were variable.
