J Cerebrovasc Endovasc Neurosurg.  2024 Sep;26(3):298-303. 10.7461/jcen.2023.E2023.07.001.

Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1

• Huang S
• Dobyns W
• Duncan C
• Nascene D

• KMID: 2559440
• DOI: http://doi.org/10.7461/jcen.2023.E2023.07.001

Abstract

Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis

Keyword

Chromosome 17 duplication; Central nervous system vascular malformation; Genetic disorder

Figure

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  Fig. 1. (A) Axial T2-weighted MRI obtained at the age of 5 shows numerous tortuous cortical veins (white arrows). (B) Coronal T2-weighted MRI shows numerous tortuous cortical veins (white arrows). (C) Full-field coronal maximum intensity projection of contrast- enhanced Time-of-flight MRA shows tortuous cortical veins (white arrows) and normal appearing arterials and major dural venous sinuses. MRI, magnetic resonance image; MRA, magnetic resonance angiography

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  Fig. 2. (A) Anteroposterior (AP) catheter angiogram at arterial phase demonstrate normal arterial anatomy without arteriovenous shunting. (B) AP catheter angiogram at early venous phase demonstrate diffuse tortuous cortical veins. (C) AP catheter angiogram at late venous phase demonstrate tortuous cortical veins draining into normal appearing major venous sinuses. (D) Lateral catheter angiogram at arterial phase demonstrate normal arterial anatomy without arteriovenous shunting. (E) Lateral catheter angiogram at early venous phase demonstrate diffuse tortuous cortical veins. (F) Lateral catheter angiogram at late venous phase demonstrate tortuous cortical veins draining into normal appearing major venous sinuses.

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