Neurofibromatosis, stroke and basilar impression: case report

Abstract

-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

Cardiac findings in an individual with neurofibromatosis 1 and sudden death

“…Other reported complications are occlusions resulting in cerebral and visceral infarcts [Levisohn et al, 1978;Taboada et al, 1979;Sobata et al, 1988;Woody et al, 1992], aneurysms resulting in haemorrhage [Muhonen et al, 1991;Huffman et al, 1996;Grif®ths et al, 1998;Singh et al, 1998], and arteriovenous ®stula [Murayama et al, 1999]. Convulsions, hemiparesis [Piovesan et al, 1999], and headaches may also be clinical manifestations of NF1 vasculopathy, but the range of clinical manifestations is not well characterised. The frequency of NF1 vasculopathy is unknown.…”

Young stroke due to vascular anomaly from neurofibromatosis type 1

“…A hospital-based case series of follow-up of type 1 neurofibromatosis showed stroke as a neurological complication 8. There are also case reports of stroke in children9 and young adults10 11 as neurological sequel secondary vascular anomaly associated with neurofibromatosis type 1 1 5 6 9 – 11. The exact mechanism for vascular anomalies is not known.…”

Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

“…In spite of the course with “café-au-lait” spots and neurofibromas, NF1 may also influence many organs. Although vasculopathy is a known complication in NF1, cerebrovascular disorders are rarely encountered [3, 4]. Seen in MTHFR gene, various mutations cause the formation of hyperhomocysteinemia and homocystinuria, a significant risk factor for cardiovascular and cerebrovascular disorders, by leading to inactivation of enzymes [5].…”