Neurofibromatosis Cerebral Vasculopathy in an Infant: Clinical, Neuroradiographic, and Neuropathologic Studies

Woody, Robert C.; Perrot, Linda J.; Beck, Suzanne A.

doi:10.3109/15513819209024212

Cited by 29 publications

(9 citation statements)

References 8 publications

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“…20,[33][34][35][36] The authors suggested that the neurofibromatosis type I protein is responsible for the growth of endothelial and smooth muscle cells in the ICA and their branches. Although this presumption could not be confirmed, several indications for a MMD gene on Chromosome 17q25 were found.…”

Section: Acta2mentioning

confidence: 99%

Genetics of Moyamoya disease

et al. 2010

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Section: Acta2mentioning

confidence: 99%

Genetics of Moyamoya disease

et al. 2010

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“…6 More than 50 cases of such an association have been reported so far. 4,[7][8][9] In the present study, we conducted linkage analyses on pedigrees of familial moyamoya disease to test the hypothesis that moyamoya disease is linked to a particular chromosomal region. …”

mentioning

confidence: 99%

Linkage of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) to Chromosome 17q25

Yamauchi

Tada

Houkin

et al. 2000

Stroke

254

146

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Background and Purpose-Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2. Methods-To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. Leukocyte DNA extracted from the family members was subjected to polymerase chain reaction for a total of 22 microsatellite markers on chromosome 17. The amplified polymerase chain reaction fragments were analyzed with GeneScan on an automated sequencer. Results-Two-point linkage analysis gave a maximum log 10 odds (LOD) score of 3.11 at the recombination fraction of 0.00for the marker at locus D17S939. The affected pedigree member method also showed a significantly low P value (Ͻ1.0ϫ10 Ϫ5 ) for the 5 adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4.58. Key Words: child Ⅲ genetics Ⅲ moyamoya disease S pontaneous occlusion of the circle of Willis (moyamoya disease) is a clinical entity of unknown cause that is characterized primarily by angiographic findings of bilateral occlusion at the terminal portion of the internal carotid artery with a characteristic telangiectasic vascular network ("moyamoya" vessels) at the base of the brain. Although the disease is extremely uncommon in non-Asian populations, 1 its estimated prevalence in the entire Japanese population is Ն3 per 100 000 persons. 2 Together with the elevated incidence in the Japanese population, there are several lines of evidence that indicate moyamoya disease is related to genetic factors 3-5 : (1) familial occurrence is seen in Ϸ9% of cases, (2) the incidence of the disease in both monozygotic twins is 80%, and (3) the sib recurrence rate and relative incidence rate in offspring are 42 and 34 times higher than the incidence rate in the general population. On the basis of the statistical data, Osawa et al 4 concluded that moyamoya disease is inherited most probably in a polygenic mode or an autosomal dominant fashion with a low penetrance. Conclusions-In this regard, it is quite interesting that the characteristic lesions of moyamoya disease are occasionally associated with neurofibromatosis type 1 (NF1; von Recklinghausen's disease), of which the responsible gene, NF1, is located on chromosome 17q11.2. 6 More than 50 cases of such an association have been reported so far. 4,[7][8][9] In the present study, we conducted linkage analyses on pedigrees of familial moyamoya disease to test the hypothesis that moyamoya disease is linked to a particular chromosomal region. Subjects and Methods AscertainmentEach member of 24 families who agreed to participate in the present study wa...

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“…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 .…”

Section: Discussionmentioning

confidence: 99%

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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Neurofibromatosis Cerebral Vasculopathy in an Infant: Clinical, Neuroradiographic, and Neuropathologic Studies

Cited by 29 publications

References 8 publications

Genetics of Moyamoya disease

Genetics of Moyamoya disease

Linkage of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis) to Chromosome 17q25

Neurofibromatosis, stroke and basilar impression: case report

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