Abstract
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.
Materials and 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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: September 22, 2008
Accepted:
April 20,
2008
Received:
March 20,
2008
Identification
Copyright
© 2009 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
