Cerebral arteriopathy associated with Arg179His ACTA2 mutation

Area of Science:

• Genetics and Neurology
• Vascular Biology

Background:

• ACTA2 mutations are linked to multisystem smooth muscle dysfunction.
• This syndrome can manifest as pediatric stroke, a serious neurological event.

Observation:

• A 3-year-old girl presented with acute ischemic stroke.
• High-resolution imaging revealed specific cerebral artery abnormalities.

Findings:

• Novel findings include multiple tiny aneurysms, especially in the posterior circulation.
• Characteristic imaging showed straightened, narrowed intracranial vessels and dilated cervical vessels.
• Occlusion of the M1 MCA segment was observed without lenticulostriate collateral formation.

Implications:

• This ACTA2-related vasculopathy should be considered in pediatric stroke differentials.
• Clinicians need to recognize this rare condition and its potential neurological complications.