Mystery Case: Missed diagnosis of hereditary hemorrhagic telangiectasia presenting with recurrent ischemia

A 35-year-old patient presented with hemianopia, decreased consciousness, and bilateral cortical foci of restricted diffusion (figure). Investigations for migraine, vasculitis, and cardiogenic stroke were negative. Four months later, the patient developed left foot claudication and discoloration. She was found to have lingual mucocutaneous telangiectasias and epistaxis. Further workup revealed pulmonary and cerebral arterial–venous malformations (AVMs). The patient met 3/4 Curacao criteria and had a definite hereditary hemorrhagic telangiectasia (HHT) diagnosis. Paradoxical emboli were the cause of her infarcts and lower extremity ischemia.

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