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. 2018 Oct 5;131(19):2368–2370. doi: 10.4103/0366-6999.241801

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Copyright: © 2018 Chinese Medical Journal

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Diffusion-weighted MRI at initial presentation showed high-intensity signal over bilateral basal ganglia and thalamus, and extensive bilateral subcortical white matter abnormalities (a and b). MRV demonstrated thrombosis in the straight sinus and right transverse sinus (c and d). Our patient was carrying two heterozygous nucleotide variations of CBS gene: c.154T>C (p. C52R) (e) and c.457G>A (p.G153R) (f). c.154 T>C was inherited from his father and c.457G>A was inherited from his mother (g). Magnetic resonance black blood thrombus imaging demonstrated hyper-intense signal intensity in the straight sinus (h) (arrowheads), the right transverse and sigmoid sinuses (arrowheads) (i). MRI: Magnetic resonance imaging; MRV: Magnetic resonance venography; CBS: Cystathionine beta-synthase.