Hereditary Hemorrhagic Telangiectasia

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 seondary 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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Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Román

Fisher

Perl

et al. 1978

Annals of Neurology

228

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Pulmonary vascular disorders masquerading as interstitial lung disease

Sondheimer

Lung

Brugman

et al. 1995

Pediatric Pulmonology

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During the acquisition of a series of 92 children with interstitial lung disease (ILD) over a 14 year period, a significant minority (8/92 or 9%) were initially diagnosed as having ILD, but were subsequently found to have a variety of arterial, venous, and/or capillary disorders that explained their initial pulmonary findings. This subgroup of patients has had a very high morbidity and mortality, with only three of eight patients currently surviving. The presentation, evaluation, and natural history of these eight children were reviewed. We developed a strategy of cardiac and pulmonary evaluation for children presenting with clinical and radiographic features of ILD that helped us to identify rapidly those with pulmonary vascular disorders.

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Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia

1977

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Hereditary hemorrhagic telangiectasia is described in four generations of a kinship. The family is unique in that three generations manifest central nervous system vascular disease, which was pathologically confirmed in two generations. Genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with central nervous system arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.

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Hereditary Hemorrhagic Telangiectasia

Cited by 7 publications

References 10 publications

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Pulmonary vascular disorders masquerading as interstitial lung disease

Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia

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