Endovascular management of spontaneous intracranial pseudoaneurysms in a pediatric patient with Noonan syndrome. A mere coincidence or a possible association with the disorder?
- Department of Interventional Radiology, Red Cross Hospital, Athens, Greece.
- Department of Neurosurgery, Children’s Hospital Agia Sofia, Athens, Greece.
Christina Aslanidi, Department of Interventional Radiology, Red Cross Hospital, Athens, Greece.
DOI:10.25259/SNI_837_2021Copyright: © 2021 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Sofia Athanasiou1, Christina Aslanidi1, Vasileios Mamalis1, George Markogiannakis2, Antonios Tsanis1, Eftichios Arhontakis1. Endovascular management of spontaneous intracranial pseudoaneurysms in a pediatric patient with Noonan syndrome. A mere coincidence or a possible association with the disorder?. 25-Oct-2021;12:537
How to cite this URL: Sofia Athanasiou1, Christina Aslanidi1, Vasileios Mamalis1, George Markogiannakis2, Antonios Tsanis1, Eftichios Arhontakis1. Endovascular management of spontaneous intracranial pseudoaneurysms in a pediatric patient with Noonan syndrome. A mere coincidence or a possible association with the disorder?. 25-Oct-2021;12:537. Available from: https://surgicalneurologyint.com/surgicalint-articles/11200/
Background: Noonan syndrome (NS) is a rare autosomal-dominant neurodevelopmental disorder, which typically develops abnormalities of the craniofacial development and congenital heart defects. A number of cerebrovascular anomalies have also been occasionally described previously in the setting of NS. The assumption that NS can induce the formation of intracranial pseudoaneurysm (IAP) or the rupture of an already existing abnormality is yet unknown.
Case Description: We encountered a rare case of a 9-year-old NS patient with two IAPs presenting with episodes of intracerebral hemorrhage that were successfully managed with endovascular embolization.
Conclusion: This case represents a possible association between NS and the presence of ruptured IAPs.
Keywords: Intracranial pseudoaneurysm, Endovascular treatment, Noonan syndrome, Pediatric
Noonan syndrome (NS) is an autosomal-dominant neurodevelopmental disorder caused by germline mutation in genes coding for proteins that are part of the RAS/mitogen-activated protein kinase pathway, with an incidence of between 1 in 1000 and 1 in 2,500 live births.[
A 9-year-old male patient was admitted to our emergency department with a sudden onset of headache, nausea and vomiting. and severely altered mental status. His medical history included NS. Subsequently, he underwent a computed tomography (CT) scan of the brain, which depicted a massive left-side frontoparietal intracerebral hematoma with associated subarachnoid hemorrhage [
Cerebrovascular abnormalities that have been previously reported in association with NS include cerebral arteriovenous malformations, intracerebral occlusive artery disease, aneurysms, hypoplasia of the posterior cerebral vessels, cerebral cavernous malformations, and moyamoya disease.[
IPAs are an infrequent but rather underdiagnosed cause of intracranial hemorrhage, constituting <1% of all intracranial aneurysms in adults.[
The presenting symptoms may vary depending on the rupture status, location, and size of the IPA.[
Early diagnosis and treatment are essential, as IPAs have a mortality rate of 50% if left untreated, due to the high risk of embolic events and rupture.[
There are a number of potential treatment options, all of which require consideration to determine the most appropriate management. Historically, surgical intervention has been the treatment of choice, including trapping, in which clips are placed on the parent vessel, both proximal and distal to the pseudoaneurysm, with or without bypass revascularization. However, concerns remain about craniotomy surgery regarding the sacrifice of the parent artery and consequent ischemic complications.[
Packing of the IPA with coils is preferable for narrow-necked pseudoaneurysm. The main advantage of this selective embolization is the complete IPA exclusion with integrity of the parent artery. However, due to the fragility of the pseudoaneurysm wall, it has the risk of microcatheter or coil perforation throughout the procedure. Moreover, IPA recurrence remains a major issue for patients treated with simple coiling, as its impaction into the thrombus may force the flow pulsatility into the interstices of the coil mass.[
In addition, covered stent implantation constitutes another reconstructive endovascular treatment, which can exclude blood flow through the stent as a physical barrier and retain the normal anatomic flow through the parent artery. In contrast to uncovered stents, covered stents decrease the possibility of neointimal proliferation and restenosis, reducing embolization risk caused by thrombus debris during the procedure of stent deployment.[
Flow-diverting strategy has emerged as a viable treatment option for selected intracranial aneurysms and IPAs, as they are specifically designed to maintain laminar flow in the parent artery and side branches, reducing flow velocity and promoting thrombosis of the aneurysmatic sac.[
We report the case of a young patient with NS who had two IAs, a hitherto unreported finding in patients with this syndrome. Nonetheless, this case represents a possible association between NS and cerebral pseudoaneurysms, which definitely needs further research to assess whether a true correlation between the aforementioned pathologies exist.
Patient’s consent not required as patients identity is not disclosed or compromised.
There are no conflicts of interest.
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