Cerebrovascular dysplasia in neurofibromatosis type 1.
OBJECTIVE
To assess the frequency and clinical characteristics of the increasingly recognised complication of cerebrovascular dysplasia in children with neurofibromatosis type 1 (NF1).


METHODS
A series of seven patients with NF1 and cerebrovascular dysplasias that were not secondary to radiotherapy were identified and prospectively assessed. An extensive review of the literature was also performed to identify associated features and the natural history of this potentially severe complication of NF1.


RESULTS
The frequency of cerebrovascular dysplasia in NF1 was found to be 2-5%, and vascular lesions were clearly visible on routine MRI of the brain. The majority of patients were clinically asymptomatic, despite angiographic progression in some cases. Hypoplastic carotid canals and early appearance on MRI suggested that a proportion of cases of cerebrovascular dysplasia were congenital in origin.


CONCLUSIONS
These findings have implications for screening of asymptomatic patients with NF1, and highlight the difficult management decisions in those patients identified with cerebrovascular malformations.
Cairns
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AG
Neurogenetics Research Unit, The Children's Hospital at Westmead, Sydney, Australia.
North
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KN
D001932:Brain Neoplasms / Q000151:congenital / Q000175:diagnosis* / Q000453:epidemiology*; D002648:Child; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D008403:Mass Screening; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000453:epidemiology*; D011446:Prospective Studies