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Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings
T Suzuki1, J Koizumi, H Shiraishi
1Department of Psychiatry, University of Tsukuba, Japan.
Abstract:
A case of mitochondrial encephalomyopathy (MELAS) with mental disorder is reported. The SPECT study using 123I-iodoamphetamine (IMP) and MRI study revealed abnormality in the left parieto-occipital areas without abnormality in the brain CT or brain scintigram. These findings suggest a localized dysfunction of the brain capillary endothelium in association with the cerebral involvement of mitochondrial encephalomyopathy.
Insights
Mitochondrial encephalomyopathy with mental disorder (MELAS) showed localized brain capillary endothelial dysfunction. SPECT and MRI revealed left parieto-occipital abnormalities, suggesting specific cerebral involvement in MELAS.
Area of Science:
- Neurology
- Neuroimaging
- Mitochondrial Diseases
Background:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare genetic disorder.
- Neurological and psychiatric manifestations are common in MELAS.
- Cerebral involvement in MELAS often presents with stroke-like lesions.
Observation:
- A case of MELAS presenting with mental disorder was investigated.
- Neuroimaging studies included Single-Photon Emission Computed Tomography (SPECT) with 123I-iodoamphetamine (IMP) and Magnetic Resonance Imaging (MRI).
- Brain Computed Tomography (CT) and brain scintigraphy were also performed.
Findings:
- SPECT and MRI revealed abnormalities in the left parieto-occipital regions.
- Brain CT and brain scintigraphy showed no abnormalities.
- These imaging findings suggest localized cerebral involvement.
Implications:
- The results indicate a potential localized dysfunction of the brain capillary endothelium in MELAS.
- This dysfunction may be associated with the cerebral manifestations of the disease.
- Further research into endothelial dysfunction could offer new therapeutic targets for MELAS.