%0 Case Reports
%T Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.
%A Raghuram A
%A Sanchez S
%A Lu Y
%A Hickerson M
%A Mayorga MBS
%A Romero JM
%A Matsumoto S
%A Musolino PL
%A Samaniego EA
%J J Stroke Cerebrovasc Dis
%V 32
%N 3
%D Mar 2023
%M 36621119
%F 2.677
%R 10.1016/j.jstrokecerebrovasdis.2022.106938
%X OBJECTIVE: Mutations in the MYH11 gene result in smooth muscle cell dysfunction and are associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric patient with a stroke and a pathogenic MYH11 IVS32G>A mutation, and a phenotype similar to ACTA2.
METHODS: A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI.
RESULTS: A 12-year-old girl presented with a right middle cerebral artery occlusion. She received thrombolysis and underwent mechanical thrombectomy. An extensive stroke work-up was negative. A three-generation pedigree showed a splice site mutation of MYH11 IVS32G>A of the proband and three more family members. A 7T-MRI showed "broomstick-like" straightening of distal arterial segments, a V-shaped anterior corpus callosum and a post-stroke cystic area of encephalomalacia. This vascular appearance and parenchymal abnormalities typically present in patients with an ACTA2 phenotype. 7T-MRI also demonstrated thickening of the right middle cerebral arterial wall.
CONCLUSIONS: This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations. This is the first report of arterial wall thickening in a MYH11 stroke patient using 7T-MRI. Patients with MYH11 mutations may display a focal cerebral steno-occlusive arteriopathy that may lead to stroke.