Stroke due to paradoxical cerebral embolism: case report of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia or Rendu Osler Weber syndrome is a rare autosomal dominant genetic vascular disease. We present the case of a young adult who was admitted due to acute neurological deficit characterized by right motor deficit and aphasia due to acute ischemic stroke. The patient presented a history of previous epistaxis, presence of telangiectasias in the oral cavity, anemia and clubbing. A transcranial Doppler ultrasound revealed a right-left shunt and a pulmonary AVM was identified as the extracardiac cause of the shunt. The diagnosis of hereditary hemorrhagic telangiectasia is concluded, embolization is performed and subsequent left lower lobectomy correcting the AVM. The patient was discharged after the etiological study was completed, genetic counseling and outpatient rehabilitation therapy were provided. It is important to carry out a comprehensive evaluation in all young patients with stroke without classic cardiovascular risk factors, since carrying out appropriate diagnostic studies in a timely manner increases the probability of identifying the etiology, preventing the recurrence of new cerebrovascular events and improving the prognosis by providing adequate therapy.