Table. 1: Main laboratory tests that guided the diagnosis of cystathionine-beta-synthase deficiency in the four patients.
CBS: Cystathionine-beta-synthase, tHcy: total homocysteinemia, AT: antithrombin activity, PC: Protein C activity, PS: Protein S antigen, FV: factor V, FVII: factor VII, MCV: mean corpuscular volume, N: normal, NR: not reported.
*results of amino acid chromatography, †G20210A, §Lupus anticoagulant, anti-cardiolipin antibodies, anti-ß2GP1 antibodies, ‡ not described in the literature, but probably pathogenic according to the bioinformatic analysis.
FIGURE 1
Figure 1:Patient with spontaneous bilateral segmental pulmonary embolism. Enhanced thoracic computed tomography pulmonary angiography image showing pulmonary embolism with a thrombus in the left anterior segmental artery (arrow).
FIGURE 2
Figure 2: Cerebral diffusion magnetic resonance imaging (2A) and apparent diffusion coefficients cartography (2B) in the transverse plane showing the left Sylvian ischemic stroke. The 3D time-of-flight magnetic resonance angiography shows the occlusion (arrow) of the left medium cerebral artery (M1section) (2C) in a patient with acute aphasia and right hemiplegia.
FIGURE 3
Figure 3: Computed tomography pulmonary angiography image showing a floating thrombus in the left carotid sinus (arrow).
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