Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G→C mutation

ObjectiveTo identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G→C mutation.Materials and MethodsEight cases with definite diagnosis of SURF1 gene 604G→C mutation in our hospital were reviewed. Most cases presented typical symptoms in their infancy or childhood, with psychomotor regression, hypotonia, or eye movement disturbances. They all underwent cranial MR examinations after the onset. Their brain images were reviewed by an experienced neuroradiologist to determine the abnormalities.ResultsThe data of our group showed heterogeneous neuroradiological findings: involvement of the brain stem and subthalamic nuclei was found in only three cases; basal ganglia abnormalities were detected in two cases, whereas demyelination was demonstrated in four cases; and brain atrophy existed invariably in the group.ConclusionThe MR presentation in LS patients with SURF1 gene 604G→C mutation is variable. Maybe it is not appropriate to correlate a specific gene mutation with a homogenous radiological pattern.