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Erschienen in:
09.04.2019 | Clinical Image
Magnetic resonance spectroscopy in Leigh-MELAS overlap syndrome
Erschienen in: World Journal of Pediatrics | Ausgabe 3/2019
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A 4-year-old boy presented with insidious psychomotor regression at the age of 12 months. Brain MRI revealed symmetric lesions in the bilateral basal ganglia (Fig. 1a), whereas brain magnetic resonance spectroscopy (MRS) revealed no abnormalities (Fig. 1b). Muscle biopsy revealed ragged red fibers, megaconia, and mitochondrial respiratory chain complex I defect. Genetic investigation confirmed the ND3 mitochondrial mutation 10191T>C. He was diagnosed with Leigh syndrome. Two years later, he experienced seizures. MRI revealed new focal diffusion-restricted lesions in multiple cortices (Fig. 2a), and MRS revealed an inverted doublet lactate peak (Fig. 2b). He was finally diagnosed with Leigh-MELAS overlap syndrome.
Fig. 1
Initial brain MRI and MRS revealing characteristics of Leigh syndrome. a T2-weighted images showing abnormal high signal intensities in the bilateral basal ganglia, especially in the putamina. b MRS revealing an increased choline peak, without a visible lactate peak. MRI magnetic resonance imaging, MRS magnetic resonance spectroscopy
Fig. 2
Follow-up brain MRI and MRS revealing characteristics of both Leigh syndrome and MELAS. a T2-weighted images showing abnormal high signal intensities in the bilateral basal ganglia, especially in the putamina. Additionally, progressively increased signal intensities in the bilateral caudate nuclei, and newly developed signal changes in both the frontal and parietal cortices and adjacent white matter, can be observed. b MRS revealing an increased choline peak, with a newly developed inverted doublet lactate peak (arrow). MRI magnetic resonance imaging, MRS magnetic resonance spectroscopy, MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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