Article
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics - 1 Jul 2024
Gerasimenko Anna, Mignot Cyril, Naggara Olivier, Coulet Florence, Ekram Samar, Heide Solveig, Sorato Clarisse, Mazowiecki Maxime, Perrin Laurence, Colas Chrystelle, Cusin Veronica, Caux Frédéric, Dardenne Antoine, El Chehadeh Salima, Verloes Alain, Maurey Hélène, Afenjar Alexandra, Petit Florence, Barete Stéphane, Boespflug-Tanguy Odile, Bourrat Emmanuelle, Capri Yline, Ciorna Viorica, Deb Wallid, Doummar Diane, Perrier Alexandre, Guédon Alexis, Houdart Emmanuel, Isidor Bertrand, Jacquemont Marie-Line, Buffet Camille, Mercier Sandra, Passemard Sandrine, Riquet Audrey, Ruaud Lyse, Schaefer Elise, Heron Delphine, Bisdorff Annouk, Benusiglio Patrick R
Abstract excerpt
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58,...
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