PMC7830158_01
No recordable visual evoked potentials (VEPs; N75, P100, and N145) and VEP waveforms are seen.
fneur-11-576881-g0001.jpg
PMC7830158_01_fneur-11-576881-g0001.jpg
F1
Visual evoked potential (VEP) waveforms (N75, P100, and N145) were undetectable in our patient (Figure 1).
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.
fneur-11-576881-g0002.jpg
PMC7830158_01_fneur-11-576881-g0002.jpg
F2
Cervical and thoracic MRIs were normal (Figure 2).
The denaturing high-performance liquid chromatography analysis results show a full deletion of exon 4 in the ARSA gene.
fneur-11-576881-g0003.jpg
PMC7830158_01_fneur-11-576881-g0003.jpg
F3
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.
The black arrow shows c.659C>T, a novel Pro220Leu mutation in exon 3 of the ARSA gene.
fneur-11-576881-g0004.jpg
PMC7830158_01_fneur-11-576881-g0004.jpg
F4
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.