case_images: PMC11333127_01
case_images: Sagittal T-2 weighted MRI images show mild cerebellar atrophy and brainstem involvement. Axial T-1 weighted (a), gad enhanced (b), and T-2 weighted (c) images of brain MRI demonstrate a focus of left internal capsule infarction (red arrows).
case_images: CRII2024-4380689.001.jpg
case_images: PMC11333127_01_CRII2024-4380689.001.jpg
case_images: fig1
case_images: Brain MRI findings were suggestive of left-sided brain stroke (left internal capsule; Figure 1). No difference was observed between the two MRI (Figure 1).
case_images: Homozygosity of the case 1 and heterozygosity of her parents for c.140G>T variant.
case_images: CRII2024-4380689.002.jpg
case_images: PMC11333127_01_CRII2024-4380689.002.jpg
case_images: fig2
case_images: The patient's healthy sister was normal homozygote (Figure 2).
case_images: PMC11333127_02