MRI findings in Leigh syndrome with SURF-1 gene 604G→C mutations / 中华放射学杂志
Chinese Journal of Radiology
;
(12): 1246-1248, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-397469
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 following3 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Radiology
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS