Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug-Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb, Diane Doummar, Alexandre Perrier, Alexis Guédon, Emmanuel Houdart, Bertrand Isidor, Marie-Line Jacquemont, Camille Buffet, Sandra Mercier, Sandrine Passemard, Audrey Riquet, Lyse Ruaud, Elise Schaefer, Delphine Heron, Annouk Bisdorff, Patrick R Benusiglio
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, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF...
February 29, 2024: Clinical Genetics