Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation.
OBJECTIVE
To identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G-->C mutation.


METHODS
Eight 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.


RESULTS
The 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.


CONCLUSIONS
The 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.
Xie
Sheng
S
Department of Radiology, Peking University First Hospital, Beijing, China.
Xiao
Jiang Xi
JX
Qi
Zhao Yue
ZY
Yang
Yan Ling
YL
Jiang
Xue Xiang
XX
D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein