Cerebral arteriopathy associated with ACTA2 mutation

Case contributed by Dr Daniel Chow

Presentation

Chronic strokes and transient ischemic attacks (TIAs).

Patient Data

Age: 6 years
Gender: Female

ASNR 2016: This case was submitted as part of the American Society of Neuroradiology (ASNR 2016) Case Of The Day competition, in collaboration with Radiopaedia.org. 

Time-of-flight MR angiography reveals diffuse abnormalities of the intracranial arteries. Specifically, there is narrowing of the intracranial vessels and abnormal enlargement of the proximal carotid arteries. 

Selective injection of the internal carotid arteries demonstrates enlargement of the proximal ICAs. There is also straightening and narrowing of the intracranial ICAs with abnormal branches of the ACAs and MCAs. Selective injection of the left vertebral artery also demonstrates lack of normal arborization of the bilateral PCA branches. Angiographic findings are consistent with ACTA2 mutation.

Case Discussion

This patient was a 6-year-old female with history of stroke and TIAs. Images demonstrated characteristic cerebral vascular anomalies for this genotype, which was confirmed on genetic testing. ACTA2 mutation results in multisystemic smooth muscle dysfunction syndrome, which can result in cerebral arteriopathy and present as a pediatric stroke. An important distinguishing feature from moyamoya vasculopathy is the lack of lenticulostriate collaterals in this condition. 

The patient underwent an encephaloduroarteriosynangiosis (EDAS) to augment blood flow to the cerebrum and has improved clinically.

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