Carotid cavernous fistula in a young adult with Bannayan-Riley-Ruvalcaba syndrome.
Anirudh Mukhopadhyay, Cammille C Go, Wayne J Wortmann et al.
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Case in brief
A 22-year-old male with Bannayan-Riley-Ruvalcaba syndrome presented with acute unilateral eyelid swelling and chemosis, without any history of trauma or visual deficits. Imaging confirmed a direct carotid-cavernous fistula (CCF), which was successfully treated through endovascular embolization. This case illustrates the vascular complications associated with BRRS and emphasizes the need for awareness of CCF in patients with PTEN-related disorders.
Diagnostic / clinical pearl
Clinicians should consider carotid-cavernous fistula in patients with inherited connective tissue disorders like Bannayan-Riley-Ruvalcaba syndrome, even in the absence of trauma.
Why it matters
This case highlights the potential for vascular complications in patients with PTEN-related disorders, expanding the understanding of their clinical manifestations.