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Patients with the ACTA2 mutation have distinctive clinical and angiographic features—specifically, a combination of ectasia and stenosis, a straight arterial course, absence of basal collaterals, and more widespread cerebrovascular involvement in comparison with Moyamoya disease. Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. Characteristic bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients.

Thirteen consecutive patients were diagnosed with deep lumbosacral spinal dural arteriovenous fistula at a single center between 2006 and 2018. Paraparesis was present in 12 (92%) patients. Sphincter dysfunction and sensory symptoms were observed in 7 (54%) and 6 (46%) patients, respectively. The mean duration of symptoms was 6 ± 8 months. Congestive myelopathy on MR imaging was present in all patients. Prominent arterialized perimedullary veins were demonstrated in only 3 cases. Time-resolved contrast-enhanced dynamic MRA revealed arterialized perimedullary veins and an arterialized ventrolateral epidural pouch in 9/10 (90%) patients, mostly located ventrolaterally. The authors conclude that time-resolved contrast-enhanced dynamic MRA is a powerful diagnostic tool for identifying arterialized perimedullary veins as well as an arterialized ventrolateral epidural pouch.