Cerebrovascular Disorders Associated with von Recklinghausen's Neurofibromatosis: A Case Report

Sobata, E; Ohkuma, Hiroki; Suzuki, Shigeharu

doi:10.1227/00006123-198803000-00016

Cited by 98 publications

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“…Occlusion of the posterior vessels as presented in our case is much less frequent. Among 37 cases of occlusive cerebrovascular disorder reviewed by Sobata et al, only six had involvement of the posterior circulation 10 . Extracranial involvement of the carotids and vertebral arteries has also been described 5 .…”

Section: Discussionmentioning

confidence: 96%

“…Sobata et al reviewed the cases of cerebrovascular disorders associated with NF1 and found 33 cases of stenotic/occlusive arterial disorder, six cases of intracranial aneurysm, and four cases with both stenotic/occlusive disorder and aneurysm 10 . Stenotic/occlusive disorder of intracranial vascular supply generally presents symptoms in childhood or adolescence, being eventually the first manifestation of NF1 in children 11 .…”

Section: Discussionmentioning

confidence: 99%

“…Stenotic/occlusive disorder of intracranial vascular supply generally presents symptoms in childhood or adolescence, being eventually the first manifestation of NF1 in children 11 . More rarely, cases in individuals older than 40 were described 10 . On the other hand, intracranial aneurysm associated with NF1 tends to occur later, around the fifth decade of life.…”

Section: Discussionmentioning

confidence: 99%

“…Primary involvement of the middle and anterior cerebral arteries is also common 5,10 . Occlusion of the posterior vessels as presented in our case is much less frequent.…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis of occlusive cerebrovascular disease of NF1 is achieved through cerebral angiography which presents stenosis or occlusion of cerebral vessels, in general bilaterally 10,12 . In most cases, the angiographic pattern is identical to moyamoya disease, an idiopathic occlusive cerebrovascular disease that affects children and young adults in eastern countries 10,13 .…”

Section: Discussionmentioning

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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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Primary involvement of the middle and anterior cerebral arteries is also common 5,10 . Occlusion of the posterior vessels as presented in our case is much less frequent.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Neurofibromatosis, stroke and basilar impression: case report

Piovesan

Scola

Werneck

et al. 1999

Arq. Neuro-Psiquiatr.

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Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Khan

Novakovic²,

Rosengart

2006

Arch Neurol

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Cardiac findings in an individual with neurofibromatosis 1 and sudden death

2001

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Vascular lesions in neurofibromatosis 1 (NF1) are infrequently recognised as manifestations of the disease, yet they can produce serious complications. Most individuals with NF1 vasculopathy are asymptomatic, which may contribute to underestimation of its frequency. A recent study indicates that vascular changes in individuals with NF1 contribute to mortality at younger ages. We report the sudden death of a young man with NF1. On autopsy examination there was evidence of an intramyocardial vasculopathy characteristic of the vascular pathology previously described in NF1. Other cardiac findings included non-specific cardiomyopathic changes, myocardial fibrosis, and a "floppy" mitral valve.

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Cerebrovascular Disorders Associated with von Recklinghausen's Neurofibromatosis: A Case Report

Cited by 98 publications

References 0 publications

Neurofibromatosis, stroke and basilar impression: case report

Neurofibromatosis, stroke and basilar impression: case report

Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Cardiac findings in an individual with neurofibromatosis 1 and sudden death

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