Cerebral arteriopathy associated with ACTA2 mutation

Case contributed by Dr Daniel Chow


6 year old female with history of chronic strokes and transient ischemic attacks (TIAs).

Patient Data

Age: 6
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. 

DSA (angiography)

Selective injection of the internal carotid arteries demonstrate enlargement of the proximal ICA. There is also straightening and narrowing of the intracranial ICA with abnormal branch of the ACA and MCA. Selective injection of the left vertebral artery also demonstrates lack of normal arborization of the bilateral PCA branches. Angiographic findings are consistent with ACTA-2 mutation.

Case Discussion

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

Patient underwent an encephaloduroarteriosynangiosis (EDAS) to indicate blood flow the cerebrum and has improved clinically.

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Case information

rID: 42870
Published: 14th Feb 2016
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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