Journal
MITOCHONDRION
Volume 13, Issue 4, Pages 364-371Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2013.04.008
Keywords
Mitochondrial disorder; Brain MID; Neuroimaging; Spectroscopy
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We retrospectively studied the brain MRIs of 66 pediatric patients with mitochondrial disorder with central nervous system involvement Forty-one patients had an identified genetic etiology. A predominance of cerebrocortical lesions was mainly seen in patients with MELAS and Alpers syndrome. Basal ganglia were predominantly affected in patients with Leigh syndrome. All patients with leukoencephalopathy had pathological spectroscopy. Cerebrocortical atrophy with agenesis/atrophy of the corpus callosum was seen in patients with congenital lactic acidosis with or without pyruvate dehydrogenase complex deficiency. The diagnostic approach used in our study from the neuroanatomical/neurofunctional lesion to disease identification assists the physician in the use of brain neuroimaging early in the diagnostic work-up of suspected mitochondrial disorders. (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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