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Review
. 2022 Oct;188(10):3009-3015.
doi: 10.1002/ajmg.a.62931. Epub 2022 Aug 10.

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

Una-Marie Sheerin  1 , Paul Holmes  1 ; London NF1 Research Group; Lucy Childs  1   2 , Amit Roy  1   2 , Rosalie E Ferner  1   3
Affiliations
Review

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

Una-Marie Sheerin et al. Am J Med Genet A. 2022 Oct.

Abstract

Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in our service between 2009 and 2019, to determine presence of vascular abnormalities, age at detection, associated symptoms and management. A literature review of the range of vascular abnormalities associated with NF1 was also undertaken. 1234 patients had magnetic resonance imaging cranial imaging. The frequency of vascular abnormalities associated with NF1 patients who had cranial imaging in this cohort was 3.5% (n = 43), the majority (n = 26, 60%) were symptomatic. Stroke and cerebral arterial stenosis were the commonest vascular complication. Eight patients (0.65%) had more than one type of vascular abnormality. One death due to a vascular complication was identified and significant morbidity resulted from other complications. We conclude that clinicians caring for patients with NF1 need to be cognizant that rapid onset of new neurological symptoms or signs may be the result of a vascular complication of NF1 and require urgent investigation and management, ideally within specialist teams who have experience of managing vascular complications of NF1.

Keywords: Neurofibromatosis type 1; cerebrovascular disease; clinical neurology; genetics; neurogenetics.

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References

REFERENCES

    1. Bajaj, A., Li, Q. F., Zheng, Q., & Pumiglia, K. (2012). Loss of NF1 expression in human endothelial cells promotes autonomous proliferation and altered vascular morphogenesis. PLoS One, 7(11), e49222. https://doi.org/10.1371/journal.pone.0049222
    1. Balanescu, C., Brar, R., Evans, N., Tsui, J., Lindsey, B., Papadopoulou, A., Brookes, J., Lim, C. S., & Hamilton, G. (2019). Successful repair of a Vasculopathic aneurysmal brachial artery in a patient with type 1 Neurofibromatosis. Annals of Vascular Surgery, 61, 467.e417-467.e422. https://doi.org/10.1016/j.avsg.2019.04.042
    1. Cairns, A. G., & North, K. N. (2008). Cerebrovascular dysplasia in neurofibromatosis type 1. Journal of Neurology, Neurosurgery, and Psychiatry, 79(10), 1165-1170. https://doi.org/10.1136/jnnp.2007.136457
    1. Friedman, J. M., Arbiser, J., Epstein, J. A., Gutmann, D. H., Huot, S. J., Lin, A. E., Mcmanus, B., & Korf, B. R. (2002). Cardiovascular disease in neurofibromatosis. 1: Report of the NF1 cardiovascular task force. Genetics in Medicine, 4(3), 105-111. https://doi.org/10.1097/00125817-200205000-00002
    1. Gonzalez-Pinto, T., Perez Concha, T., & Moreno Estebanez, A. (2018). Intracranial arterial dolichoectasia and superficial siderosis associated to neurofibromatosis type 1: Report of one case. Neurological Sciences, 39(12), 2209-2211. https://doi.org/10.1007/s10072-018-3529-5