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Background <p>Tuberous sclerosis complex (TSC) is an autosomal dominant, multiorgan neurocutaneous syndrome. Intracranial aneurysms associated with TSC are extremely rare, and most reports are limited to single cases. The optimal management strategies remain undefined, and the efficacy of everolimus, an mTOR inhibitor, for vascular lesions in TSC patients has not been established.</p> Case presentation <p>We describe a 4-year-old boy with TSC who developed a giant internal carotid artery (ICA) aneurysm complicated by cavernous sinus syndrome. The patient presented with diplopia and right ptosis. Imaging revealed marked ICA dilatation and a partially thrombosed aneurysm. Balloon occlusion testing confirmed adequate collateral flow via the posterior communicating artery, permitting ICA trapping without bypass. Surgical trapping was performed successfully, and everolimus was initiated postoperatively. Symptoms resolved immediately, and no new aneurysms were detected over 3 years of follow-up.</p> Conclusion <p>This is the first reported pediatric case of a giant ICA aneurysm with cavernous sinus syndrome in a TSC patient managed with surgical trapping and postoperative everolimus. Careful surgical planning combined with pharmacotherapy may offer a potential treatment option in selected TSC patients. Further studies are warranted to evaluate the long-term efficacy of everolimus in preventing aneurysm formation.</p>

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Surgical trapping and everolimus therapy for a giant internal carotid aneurysm in pediatric tuberous sclerosis complex: case report and literature review

  • 期刊论文

  • 发表日期：

    2025年12月1日

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  • Sosho Kajiwara,
  • Yusuke Otsu,
  • Jin Kikuchi,
  • Kiyohiko Sakata,
  • Yuuta Hamamoto,
  • Masaru Hirohata,
  • Hideo Nakamura,
  • Motohiro Morioka

摘要

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant, multiorgan neurocutaneous syndrome. Intracranial aneurysms associated with TSC are extremely rare, and most reports are limited to single cases. The optimal management strategies remain undefined, and the efficacy of everolimus, an mTOR inhibitor, for vascular lesions in TSC patients has not been established.

Case presentation

We describe a 4-year-old boy with TSC who developed a giant internal carotid artery (ICA) aneurysm complicated by cavernous sinus syndrome. The patient presented with diplopia and right ptosis. Imaging revealed marked ICA dilatation and a partially thrombosed aneurysm. Balloon occlusion testing confirmed adequate collateral flow via the posterior communicating artery, permitting ICA trapping without bypass. Surgical trapping was performed successfully, and everolimus was initiated postoperatively. Symptoms resolved immediately, and no new aneurysms were detected over 3 years of follow-up.

Conclusion

This is the first reported pediatric case of a giant ICA aneurysm with cavernous sinus syndrome in a TSC patient managed with surgical trapping and postoperative everolimus. Careful surgical planning combined with pharmacotherapy may offer a potential treatment option in selected TSC patients. Further studies are warranted to evaluate the long-term efficacy of everolimus in preventing aneurysm formation.