The Vascular Lesions of Neurofibromatosis

Salyer, William R.; Salyer, Diane C.

doi:10.1177/000331977402500803

Cited by 228 publications

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“…Vascular involvement is relatively common in NF1, but most patients are asymptomatic 3 . Virtually any vessel can be affected but renal arteries are the most frequently involved.…”

Section: Discussionmentioning

confidence: 99%

“…NF1 can affect virtually any organ, but it most frequently presents with "cafe au lait" spots and neurofibromas 1,2 . Vasculopathy is a known complication of NF1, being aortic, celiac, mesenteric, and renal artery involvement most frequently described 3 . Cerebrovascular disease is a rare manifestation of NF1, and it occurs as stenotic/occlusive disease, aneurysm or arteriovenous fistula 4 .…”

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confidence: 99%

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Neurofibromatosis, stroke and basilar impression: case report

Piovesan

Scola

Werneck

et al. 1999

Arq. Neuro-Psiquiatr.

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-Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described. KEY WORDS: basilar impression, moyamoya syndrome, neurofibromatosis, stroke Neurofibromatose, acidente vascular cerebral e impressão basilar: relato de caso RESUMO -A neurofibromatose tipo 1 (NF1) pode acometer qualquer órgão mas as apresentações mais frequente são manchas café com leite e neurofibromas. O envolvimento de vasos é complicação conhecida da NF1, mas a doença cerebrovascular é rara. Relatamos o caso de paciente do sexo masculino de 51 anos com história de acidente vascular cerebral há quatro meses da admissão. Ao exame físico apresentava várias manchas café com leite e neurofibromas cutâneos. O exame neurológico demonstrou acometimento facial direito, hemiplegia direita e afasia. Tomografia computadorizada de crânio mostrou áreas hipodensas nos gânglios basais e centros semiovais. Radiografias do crânio e coluna cervical mostraram impressão basilar. Arteriografia mostrou oclusão de ambas as artérias vertebrais, da artéria carótida interna esquerda e estenose parcial da artéria carótida interna direita. Visualizava-se grande rede de vasos colaterais (síndrome de moyamoya). Este é um caso raro de doença cerebrovascular oclusiva associada a NF1, já que a maioria dos casos descritos na literatura são em pessoas jovens e preservam a circulação cerebral posterior. A impressão basilar associada a este caso pode ser considerada apenas coincidência, mas raros casos de NF1 e impressão basilar já foram descritos. PALAVRAS-CHAVE: impressão basilar, síndrome de moyamoya, neurofibromatose, acidente vascular cerebral.Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by dysplasia of the mesodermal and ectodermal tissues 1 . Clinical and genetics studies distinguished two different

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“…Vascular involvement is relatively common in NF1, but most patients are asymptomatic 3 . Virtually any vessel can be affected but renal arteries are the most frequently involved.…”

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Neurofibromatosis, stroke and basilar impression: case report

Piovesan

Scola

Werneck

et al. 1999

Arq. Neuro-Psiquiatr.

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“…However, most individuals with NF1 associated vascular lesions are asymptomatic [Lehrnbecher et al, 1994], so the actual prevalence may be much higher. Salyer and Salyer [1974] found vascular lesions in seven of 18 individuals with NF1 studied at autopsy.…”

Section: Introductionmentioning

confidence: 91%

Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)

Friedman¹

2001

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Washington Headquarters Services, Directorate for Information Operations and Reports, 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA 22202-4302, and This project was designed to characterise the sources of phenotypic variability in neurofibromatosis 1 (NF1) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. We have analysed associations found in clinical and genetic data from the NNFF International Database and two other databases with logistic regression and generalized estimating equations. We then extended these methods to use multivariate probit models on familial data. These are novel statistical techniques that have not been used in this way before and yielded interesting results about the sources of phenotypic variability. We were able to determine that the presence of some features of NF1 are more influenced by variability in the NF1 allele, others by the normal NF1 allele and still others by unlinked modifying genes. We have set up, and tested the screening protocol to identify the constitutional mutations of NF1 and have obtained a number of blood samples. We have results for one of our phenotypic subgroups and are completing the analysis at the present time.14. SUBJECT TERMS Neurofibromatosis Body 5 Key Research Accomplishments 26 Reportable Outcomes 27Conclusions 31 Appendices 32 INTRODUCTIONThe natural history of neurofibromatosis 1 (NF1) is incompletely understood. It exhibits extreme clinical variability and is progressive over the course of an affected individual's life. However, the rate of progression and the occurrence of serious complications vary greatly between different patients of the same age, different affected members of a single family, and even a single affected individual at different times in life. This variability and concomitant uncertainty greatly increases the burden for affected families.The purpose of this project is to characterize the sources of phenotypic variability in NF1. The studies were performed on the world's largest NF clinical databases, together including over 5000 individuals, and used a variety of statistical and genetic epidemiological methods. Our goal was to determine if a set of clinical phenotypes exists for which allelic differences at the NF1 locus appear to be important determinants of phenotype. The molecular component of this study (undertaken by Dr. D. Viskochil, University of Utah) was to develop a molecular screening process to enable us to identify the nature of the mutations within these putative phenotypes. BODY Data used in these studies:Most of the initial analy...

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“…Neurofibromatosis type 1 (in which a high proportion of individuals have abnormal arteries 17 20 . Ras proteins cycle between a GTP-bearing (active) and GDP-bearing (inactive) states, and are involved in numerous aspects of cell signalling, particularly mediating the proliferation response to growth factors. Two of the mammalian Ras proteins, neurofibromin and p120-rasGAP, act synergistically in embryonic vascular development, at a stage of reorganisation of the early yolk sac vascular plexus, and embryonic dorsal aorta 21.…”

Section: Arterial Malformations In Neurofibromatosis Type I Neurofibrmentioning

confidence: 99%

Genetic Aspects of Cerebrovascular Malformations

Shovlin

2000

Interv Neuroradiol

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In the last decade there have been fundamental advances in our understanding of the pathogenesis of vascular malformations. These advances have resulted from the application of molecular methods to identify disease genes, rather than from immunohistochemical or physiological studies. This presentation reviews the genetic basis of a variety of cerebral vascular malformations which occur as part of well-characterised diseases inherited in an autosomal dominant manner. These highlight the diversity of mechanisms which can perturb vascular development, and should have significant implications for the development of new therapies.

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The Vascular Lesions of Neurofibromatosis

Cited by 228 publications

References 9 publications

Neurofibromatosis, stroke and basilar impression: case report

Neurofibromatosis, stroke and basilar impression: case report

Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)

Genetic Aspects of Cerebrovascular Malformations

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