ACTA2 mutation cerebral angiogram

Case contributed by Yves Leonard Voss

Presentation

History withheld

Patient Data

Age: 35
Gender: Female

Cerebral angiogram showing features of ACTA2 mutation

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Case Discussion

Adult patient with ACTA2 mutation.

Patients with ACTA2 mutation show morphological abnormalities of the supratentorial brain parenchyma (for example hypoplasia of the anterior corpus callosum) and associated abnormalities in the course of the cerebral arteries, which appear "stretched" in the lateral view and "broomstick-like" in the AP view.

Concurrent twig like right MCA.

Case imaging courtesy of Prof. R. Chapot, case information courtesy of Prof. M. Krämer (Alfried Krupp Krankenhaus Essen, Germany).

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