TY - JOUR
T1 - Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease)
T2 - Report of 2 cases and review of the literature
AU - Roman, Gustavo C.
AU - Fisher, Marc
AU - Perl, Daniel P.
AU - Poser, Charles M.
PY - 1978/1/1
Y1 - 1978/1/1
N2 - Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions secondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.
AB - Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions secondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.
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U2 - 10.1002/ana.410040207
DO - 10.1002/ana.410040207
M3 - Article
C2 - 707984
AN - SCOPUS:0017821361
VL - 4
SP - 130
EP - 144
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 2
ER -