Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies

Neuroimaging of mitochondrial disease

“…The changes in white matter are diffuse but the corpus callosum is usually spared. Wide spread supratentorial cortical atrophy was also pronounced in one study (Barragan-Campos et al, 2005). Postmortem studies have shown mild white matter edema or mild demyelination (Bardosi et al, 1987;Simon et al, 1990).…”

“…Although neurological symptoms often lead to the initial clinical referral, magnetic resonance imaging (MRI) plays an important role in interrogating the presence and pattern of central nervous system changes. As expected in this broad group of patients suspected to have a mitochondrial disease, MRI can reveal "signature" disease features, non-specific abnormalities, or a brain that appears structurally normal (Kinopoulous et al, 2005, Barragan-Campos et al, 2005Munoz et al, 1999;Valanne et al, 1998). Metabolic and oxidative defects in mitochondrial disease can be further probed using magnetic resonance spectroscopy (MRS), which measures brain chemistry present in the millimolar (mM) range.…”

“…Subcortical cerebral white matter often is abnormal (LermanSagie et al, 2005). However, basal ganglia involvement has not been shown in all studies (Barragan-Campos et al, 2005). Thus, subcortical white matter lesions and the involvement of one or more of the brainstem nuclei, basal ganglia and thalami lesions affected might best characterize KSS (Chu et al, 1999;Lerman-Sagie et al, 2005).…”

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

“…Other common MRI findings include cerebral and cerebellar atrophy, bilateral lesions of high signal intensity in the thalamus, substantia nigra and brain stem (Leutner et al 1994;Wray et al 1995;Saneto et al 2008). On the other hand, according to Barragan-Campos et al (2005), basal ganglia involvement might not always be Bianchi et al (2007) classify the MRI changes found in KSS as the syndromic type II pattern. The rest of the spectrum constitutes the type I pattern, which includes the more non-specific changes, and type III, the more leukodystrophy-like pattern.…”

Central Nervous System Imaging in Mitochondrial Disorders

“…Cortical atrophy may also develop in the chronic stage of LCN 46 . Cortical atrophy is associated with cognitive impairment on neuropsychological testing in the majority of the cases 47,48 . Diffuse cortical atrophy occurs in up to one third of the patients with encephalomyopathy 10 .…”