case_images: PMC7830158_01
case_images: No recordable visual evoked potentials (VEPs; N75, P100, and N145) and VEP waveforms are seen.
case_images: fneur-11-576881-g0001.jpg
case_images: PMC7830158_01_fneur-11-576881-g0001.jpg
case_images: F1
case_images: Visual evoked potential (VEP) waveforms (N75, P100, and N145) were undetectable in our patient (Figure 1).
case_images: Brain magnetic resonance imaging (MRI) shows white matter lesions. "Tigroid" or "leopard skin" lesions were present in T2-weighted (B) and T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences (white arrow) (C). These lesions appear dark in a T1-weighted sequence (A). Bright lesions are present in a diffusion-weighted imaging (DWI) sequence (D). The lesions show no contrast enhancement (E). The patient's magnetic resonance angiography (MRA) (F), cervical (G), and thoracic spinal cord images (H) appear normal.
case_images: fneur-11-576881-g0002.jpg
case_images: PMC7830158_01_fneur-11-576881-g0002.jpg
case_images: F2
case_images: Cervical and thoracic MRIs were normal (Figure 2).
case_images: The denaturing high-performance liquid chromatography analysis results show a full deletion of exon 4 in the ARSA gene.
case_images: fneur-11-576881-g0003.jpg
case_images: PMC7830158_01_fneur-11-576881-g0003.jpg
case_images: F3
case_images: Gene screening showed a full deletion of exon 4 (Figure 3), a novel p.P220L mutation (Figure 4), and a known mutation, p.T393S, in the ARSA gene.
case_images: The black arrow shows c.659C>T, a novel Pro220Leu mutation in exon 3 of the ARSA gene.
case_images: fneur-11-576881-g0004.jpg
case_images: PMC7830158_01_fneur-11-576881-g0004.jpg
case_images: F4
case_images: Gene screening showed a full deletion of exon 4 (Figure 3), a novel p.P220L mutation (Figure 4), and a known mutation, p.T393S, in the ARSA gene.