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Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient by Ashrita Raghuram; Sebastian Sanchez; Yongjun Lu; Meredith Hickerson; Maria Belen Solis Mayorga; Javier M. Romero; Satsuki Matsumoto; Patricia L. Musolino; Edgar A. Samaniego is a Medicine article available to read on EtoBox.

What is Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient about?

Objectives 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. Discussion This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations.

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Author

Ashrita Raghuram; Sebastian Sanchez; Yongjun Lu; Meredith Hickerson; Maria Belen Solis Mayorga; Javier M. Romero; Satsuki Matsumoto; Patricia L. Musolino; Edgar A. Samaniego

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)