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The Brain in Hereditary Hemorrhagic Telangiectasia

While neurological symptoms are often mentioned in reports of families with hereditary hemorrhagic telangiectasia (HHT) and are frequently assumed to be due to vascular anomalies of the central nervous system, documentation of such anomalies is surprisingly rare. Two cases of surgically treated symptomatic cerebral vascular malformations in HHT have been published previously. In addition, there are three descriptions of vascular anomalies discovered at autopsy in the brains of neurologically asymptomatic patients with HHT available in the literature. A complete postmortem examination of a patient with a symptomatic cerebral vascular anomaly associated with HHT has not been recorded previously. The patient reported in this paper presented with seizures and underwent surgical resection of infarcted brain tissue associated with a venous angioma. He died six months later and, at autopsy, was found to have multiple “cryptic” venous angiomas of the brain. Hypoxic damage to brain tissue related to small venous angiomas is one mechanism whereby these lesions may become symptomatic. Hemorrhage may also occur. Neurological symptoms in patients with HHT cannot be assumed to be due to cerebral vascular anomalies, and consideration must be especially given to the complications of pulmonary arteriovenous fistula such as polycythemia, embolism, and abscess.