PMC8785823_01
MRI, FDG-PET, VMAT2-PET, skin biopsy, and Sanger sequencing. (A1) FLAIR image shows white matter hyperintensity of the external capsule (yellow arrow). (A2) FLAIR image shows periventricular white matter hyperintensity (yellow arrow). (A3) Bilateral temporal poles show normal signal. (B) Flair image revealed no clearly cerebellar atrophy. (C) FDG-PET reveals hypometabolism in the right putamen. (D) VMAT2 indicates low-intensity signals in right putamen. (E) Skin biopsy shows granular osmiophilic material near the basement membrane of arteriolar smooth muscle cells (red arrow). (F) Sanger sequencing confirmed the mutation c. 1630C>T (p.R544C). MRI, magnetic resonance imaging; FDG-PET, fluorodeoxyglucose-positron emission tomography; FLAIR, fluid-attenuated inversion recovery; VMAT2, vesicular monoamine transporter type 2.
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F1
However, high signals were not observed on bilateral temporal poles (Figure 1A). Flair image revealed no clearly cerebellar atrophy (Figure 1B). Fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography showed hypometabolism in the bilateral putamen, especially on the right side (Figure 1C). Vesicular monoamine transporter type 2 (VMAT2) imaging with PET also indicated a low signal in the right putamen (Figure 1D). Skin biopsy showed the presence of granular osmiophilic material (Figure 1E), which confirmed the diagnosis of CADASIL. A missense mutation c. 1630C>T (p.R544C) on the NOTCH3 gene was identified on whole-exome sequencing and verified by Sanger sequencing (Figure 1F).