De Novo Brain Vascular Malformation in an Adult with Hereditary Hemorrhagic Telangiectasia and Juvenile Polyposis Overlap Syndrome

The development of brain vascular malformation (BVM) is rare in adults. The Hereditary Hemorrhagic Telangiectasia (HHT) Clinical Guidelines recommend BVM screening with magnetic resonance imaging (MRI) at the time of diagnosis. However, these guidelines apply broadly to the HHT population and do not account for patients with Mothers Against Decapentaplegic Homolog 4 (MADH4) mutations, often presenting other hypermobility features and cardiovascular anomalies (e.g., Aortic root aneurysms, vascular kinking).

Source: Journal of Stroke and Cerebrovascular Diseases - April 17, 2024 Category: Neurology Authors: Elisa Guan, Carolina Vazquez, Ana Braslavsky, Cristina H. Besada, Akly Manuel S. Perez, Oscar Peralta, Monaco Ricardo Garc ía, Matteo Baccanelli, Nicolás M. Ciarrocchi, Marcelo M. Serra Tags: Case Report Source Type: research