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Key Clinical Learning Points 1. The evaluation of young people with complex cerebrovascular disease should involve consideration of a systemic or genetic cause 2. This should particularly focus on cutaneous (for neurocutaneous stigmata), cardiovascular examination as well as observation of dysmorphic features 3. ACTA2 mutations lead to diffuse and diverse vascular diseases with multisystem manifestations including PDA, congenital mydriasis, pulmonary hypertension, gastrointestinal and bladder problems, as well as the cerebrovascular disease 4.

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437–43. 4. Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain. 2012;135(Pt 8):2506–14. Chapter 4 Locked in or Break Out? Fiona Kennedy Clinical History A 61-year-old woman was admitted to the Accident and Emergency department. Less than 3 hours earlier, she developed sudden onset aphasia and weakness of her right upper limb and the right side of her face.

Kennedy Investigations CT revealed an occlusive thrombus in the distal basilar artery and possibly low attenuation in the right mid brain/pons (Figs. 2). The right vertebral artery was of tiny calibre throughout its length and was difficult to identify beyond V2 (approximately the level of 6th cervical vertebrae). The radiologist commented that the latter finding might be explained by occlusion or stenosis, but might also be a normal congenital variant. As a consequence of the patient’s presentation, deterioration and the CT findings, she was transferred to the Intensive Therapy Unit (ITU).