Transient ischemic attack in hereditary hemorrhagic telangiectasia.

ABSTRACT

Transient ischemic attack or ischemic stroke in hereditary hemorrhagic telangiectasia (HHT), a rare genetic disease, is frequent in clinical practice and often associated to pulmonary arteriovenous malformations (PAVMs), potentially determining paradoxical cerebral embolism. We describe the case of a 53-year-old woman with a previous history of recurrent epistaxis, admitted to our unit for a transient episode of diplopia and unbalance. Cerebrovascular screening showed the presence of a right to left shunt at saline contrast transcranial Doppler, related to 3 PAVMs detected by subsequent chest computed tomographic scan. Genetic screening evidenced deletion in endoglin gene (ENG), suggesting diagnosis of HHT type 1. Secondary cerebrovascular prevention with antithrombotic therapy was early stopped for the worsening of epistaxis. Neurologic symptoms are common in HHT, and saline contrast transcranial Doppler can be a reliable alternative to echocardiography for detection of right to left shunt commonly related to underlying PAVMs.