PMC9157758_01
Brain MRI showing high signal intensity on T2-weighted imaging (A. axial, B. coronal) and diffusion-weighted imaging (C), apparent diffusion coefficient (D), and fluid-attenuated inversion recovery (E) images with low signal intensity on T1-weighted imaging (F) in the bilateral putamen. Arrowheads indicate the lesions.
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F1
T1-weighted images in the bilateral putamen (Figure 1). MR angiography showed normal cerebral vessels.
Brain MR spectroscopy showing increased lipid and lactate in the lesions. Normal patterns outside lesions (A), elevated lipids (white arrow) (B), and elevated lactate in both putamen (arrowhead) (C,D).
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F2
To differentiate diseases that could show lesions of symmetric basal ganglia, we also performed MR spectroscopy, detecting normal N-acetylaspartate, choline, and creatine levels, and increased lipid and lactate levels (Figure 2). The high lactate peak would indicate acute mitochondrial dysfunction and with clinical features, we determined that there was a possibility of mitochondrial encephalopathy, especially Leigh syndrome. The laboratory test revealed a lactic acid level of 2.45 mmol/L (range, 0.50-2.20 mmol/L) and a creatine phosphokinase level of 287 U/L (range, 0-250 U/L).
(A) Pedigree of the family. Arrow indicates the proband. (B) Chromatographs of NDUFAF6. The proband had a missense variant (c.371T > C) from the mother and a frameshift variant (c.233_242del) from the father.
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F3
To identify these compound heterozygous variants, we performed targeted gene sequencing of the parents, which revealed that the c.371T > C variant was inherited from the mother while the c.233_242del variant was inherited from the father (Figure 3).