Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery

Abstract

Purpose: Turner syndrome (TS) is the most common sex chromosome disorder in women and is associated with a higher than expected death rate secondary to cerebrovascular disease, including stroke. This study evaluates the cerebral vascular anatomy of individuals with TS. Methods: Twenty-one women with TS had brain magnetic resonance angiography (MRA). These MRAs were evaluated in a blinded manner with a control group of 25 men and 25 women who had MRA imaging for multiple indications including migraine headaches, psychiatric disorders, and seizures. Results: Twenty-nine percent of women with TS were missing an A1 segment of the anterior cerebral artery (ACA) compared to 0% in the control group (p < .001).There were no other significant differences in the circle of Willis (COW) in women with TS compared with the control group. A complete COW was found in 3 of 21 (14%) of women with TS and 12 of 47 (26%) controls (p = .36). Conclusion: Women with TS have a significantly different intracranial vascular anatomy, specifically the absence of the A1 segment of the ACA when compared to male and female controls. More research in brain imaging in women with TS and stroke and other cerebrovascular diseases is needed to determine the clinical significance of this anomaly. K E Y W O R D S cerebrovascular disease, circle of Willis, magnetic resonance angiography, monosomy X, Turner syndrome

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma

“…Lastly, dysfunction in blood dynamics and abnormality of intracranial arteries extensively exist in Turner syndrome patients (Silberbach et al, 2018;Kruszka et al, 2019). Our patient also showed malformation of the circle of Willis (Figure 4).…”

A bilateral fetal origin of the posterior cerebral artery coexisting with an absent A1 segment of the anterior cerebral artery: A rare combination of variants with critical clinical consequences

“…Similar to Uchino et al [10], the left ICA had a diameter of 3.2mm, presenting with a typical A1 segment, while the right ICA had a diameter of 2.5mm with an absent A1 segment. Kruszka et al [4] identi ed an increased prevalence of A1 absence in female patients with Turner Syndrome. On the other hand, the fetal-type PCA presents with great clinical interest.…”

Azygos anterior cerebral artery associated with hypoplastic A1 fragment of right anterior cerebral artery

“…The most common symptoms associated with this variation are chronic headache and dizziness, visual disturbances, nausea, weakness, and seizures [ 5 ], and these patients present with lower National Institutes of Health Stroke Scale (NIHSS) scores [ 6 ]. In Turner syndrome patients the most common intracranial vascular anomaly is an absence of the A1 fragment of ACA [ 7 ].…”