Carotid cavernous fistula in a young adult with Bannayan-Riley-Ruvalcaba syndrome

Direct carotid-cavernous fistulas (CCFs) are an uncommon but recognized vascular complication of inherited connective tissue disorders. We report a direct CCF in a 22-year-old patient with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a rare disorder within the phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) spectrum. The patient, diagnosed with BRRS at age two based on the classic triad of macrocephaly, abdominal lipomas, and genital lentiginous macules, presented with acute unilateral eyelid swelling and chemosis in the absence of trauma, visual deficits, or afferent pupillary abnormalities. Imaging revealed a direct CCF, which was successfully treated with endovascular embolization. This case expands the vascular phenotype of BRRS and highlights the importance of considering CCF in PTEN-related disorders, even in the absence of trauma.