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Noonan syndrome and moyamoya

Noonan syndrome and moyamoya
Noonan syndrome and moyamoya

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits. The association between Noonan syndrome and moyamoya has not previously been described. Disruption of vascular development in prenatal life may have resulted in both cardiac and cerebrovascular disease in this child.

0887-8994
256-258
Ganesan, V.
0541b25d-409b-434a-b628-8df993f1d8c8
Kirkham, F.J.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Ganesan, V.
0541b25d-409b-434a-b628-8df993f1d8c8
Kirkham, F.J.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58

Ganesan, V. and Kirkham, F.J. (1997) Noonan syndrome and moyamoya. Pediatric Neurology, 16 (3), 256-258. (doi:10.1016/S0887-8994(97)89980-8).

Record type: Article

Abstract

We report a patient with Noonan syndrome and asymptomatic cardiac disease (supravalvular aortic stenosis and pulmonary valvular stenosis) who had frequent transient ischemic attacks. Bilateral moyamoya was evident; in addition, he manifested activated protein C resistance and was heterozygous for the factor V Leiden mutation. Anticoagulation abolished his episodes and, despite extensive cerebrovascular disease, he has no permanent neurologic deficits. The association between Noonan syndrome and moyamoya has not previously been described. Disruption of vascular development in prenatal life may have resulted in both cardiac and cerebrovascular disease in this child.

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Published date: April 1997

Identifiers

Local EPrints ID: 429801
URI: http://eprints.soton.ac.uk/id/eprint/429801
ISSN: 0887-8994
PURE UUID: 866c4743-7374-4ebb-8938-10aa514caf3c
ORCID for F.J. Kirkham: ORCID iD orcid.org/0000-0002-2443-7958

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Date deposited: 05 Apr 2019 16:30
Last modified: 16 Mar 2024 03:22

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Contributors

Author: V. Ganesan
Author: F.J. Kirkham ORCID iD

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