Presentation
History withheld
Patient Data
Age: 35
Gender: Female
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Cerebral angiogram showing features of ACTA2 mutation
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).