Cerebral arteriopathy associated with Arg179His ACTA2 mutation

Area of Science:

• Genetics
• Neurology
• Vascular Biology

Background:

• ACTA2 mutations are linked to multisystem smooth muscle dysfunction.
• This condition can manifest as pediatric stroke.
• Understanding the vascular manifestations is crucial for diagnosis and management.

Observation:

• A 3-year-old girl presented with acute ischemic stroke.
• High-resolution cerebral artery imaging was performed.
• The patient had a confirmed ACTA2 mutation.

Findings:

• Novel findings included multiple tiny aneurysms, especially in the posterior circulation.
• Characteristic imaging showed straightened, narrowed proximal intracranial vessels.
• Dilated cervical vessels and M1 MCA segment occlusion without collateral formation were observed.

Implications:

• This newly identified disease warrants inclusion in the differential diagnosis for pediatric stroke.
• Familiarity with this rare condition and its sequelae is essential for clinicians.
• Early recognition and understanding of ACTA2-related vasculopathy can guide treatment strategies.