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Neurofibromatosis, stroke and basilar impression. Case report
E J Piovesan1, R H Scola, L C Werneck
1Internal Medicine Department, Hospital de Clinicas of Federal University of Parana, Brasil. piovesan@avalon.sul.com.br
Arquivos De Neuro-Psiquiatria
|August 18, 1999
Summary
Neurofibromatosis type 1 (NF1) is linked to rare cerebrovascular disease in adults, presenting as moyamoya syndrome. This case highlights occlusive vascular changes in the posterior circulation, uncommon in NF1 patients.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder affecting multiple organs, with vasculopathy a known complication.
- Cerebrovascular disease is an infrequent manifestation of NF1, typically observed in younger individuals and affecting anterior circulation.
Observation:
- A 51-year-old man with NF1 presented with stroke symptoms including facial paralysis, hemiplegia, and aphasia.
- Imaging revealed hypodense areas in the brain, basilar impression, and complete occlusion of vertebral arteries and the left internal carotid artery.
- Angiography confirmed moyamoya syndrome with extensive collateral vessels.
Findings:
- This case represents an unusual instance of occlusive cerebrovascular disease in an adult with NF1.
- The involvement of posterior cerebral circulation and basilar impression are rare associations with NF1-related vasculopathy.
Implications:
- This case expands the understanding of cerebrovascular complications in Neurofibromatosis type 1.
- It underscores the importance of considering vascular abnormalities in adult NF1 patients presenting with neurological deficits.
- Further research may elucidate the specific mechanisms linking NF1 to posterior circulation moyamoya syndrome and basilar impression.