case_images: PMC9157758_01
case_images: 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.
case_images: fped-10-812408-g001.jpg
case_images: PMC9157758_01_fped-10-812408-g001.jpg
case_images: F1
case_images: T1-weighted images in the bilateral putamen (Figure 1). MR angiography showed normal cerebral vessels.
case_images: 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).
case_images: fped-10-812408-g002.jpg
case_images: PMC9157758_01_fped-10-812408-g002.jpg
case_images: F2
case_images: 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).
case_images: (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.
case_images: fped-10-812408-g003.jpg
case_images: PMC9157758_01_fped-10-812408-g003.jpg
case_images: F3
case_images: 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).