Regarding “Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years”

Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia.

eNS Manifestations of Hereditary Hemorrhagic Telangiectasia 569

Hereditary hemorrhagic telangiectasia (HHT) is a familial angiodysplastic disorder. Dermal, mucosal, and visceral vascular lesions of this disorder are well known. However, central nervous system (CNS) manifestations, occurring in as many as one-third of patients, have not been well appreciated until recently. The etiology of neurologic symptomatology includes hypoxemia or ischemia secondary to...

Clinical manifestations of hereditary hemorrhagic telangiectasia.

Sixty-four patients with symptomatic hereditary hemorrhagic telangiectasia were retrospectively studied in order to determine the true incidence of clinical manifestations in this disease. This select group had a significantly higher incidence of gastrointestinal hemorrhage and pulmonary arteriovenous fistula formation than has been previously reported. Data are presented regarding the course a...

Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients

The purpose of this study is to report the neuroradiological manifestations of hereditary hemorrhagic telangiectasia (HHT). One hundred and thirty-nine Japanese HHT patients (73 men and 66 women, aged 2-78 years) were included in this study. Diagnosis of HHT was based on genetic analysis and/or clinical diagnosis of Curaçao. They included 68 HHT1 and 37 HHT2 patients. Essentially, all patients ...

Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations.

BACKGROUND AND PURPOSE Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS Demographic, clinical, genotyp...