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Background <p>Ischemic stroke in young adults poses a diagnostic challenge that requires evaluation of both conventional and non-conventional risk factors, including genetic and structural vascular diseases such as fibromuscular dysplasia (FMD).</p> Case presentation <p>We report the case of a 41-year-old patient with a previous ischemic stroke who presented with three days of progressive, pulsatile, holocranial headache without associated nausea or photophobia. Neurological examination revealed right lower limb monoparesis and hyperreflexia. Neuroimaging demonstrated an extensive left carotid artery dissection extending from its origin to the anterior communicating artery segment, along with irregularities in the vertebral and contralateral carotid arteries, consistent with FMD. Genetic testing identified a PHACTR1 gene mutation.</p> Conclusions <p>This case highlights fibromuscular dysplasia as an important cause of ischemic stroke in young adults and illustrates an unusually extensive arterial dissection associated with a PHACTR1 genetic variant. These findings support a genetically mediated vascular susceptibility spectrum and emphasize the importance of early recognition of non-atherosclerotic arteriopathies to guide diagnostic evaluation, individualized management, and secondary prevention.</p>

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PHACTR1-associated fibromuscular dysplasia presenting with extensive carotid artery dissection in a young patient with ischemic stroke: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月4日

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  • Lussiana Folleco-Insuasty,
  • Laura Restrepo-Escudero,
  • Juliana Coral-Casas

摘要

Background

Ischemic stroke in young adults poses a diagnostic challenge that requires evaluation of both conventional and non-conventional risk factors, including genetic and structural vascular diseases such as fibromuscular dysplasia (FMD).

Case presentation

We report the case of a 41-year-old patient with a previous ischemic stroke who presented with three days of progressive, pulsatile, holocranial headache without associated nausea or photophobia. Neurological examination revealed right lower limb monoparesis and hyperreflexia. Neuroimaging demonstrated an extensive left carotid artery dissection extending from its origin to the anterior communicating artery segment, along with irregularities in the vertebral and contralateral carotid arteries, consistent with FMD. Genetic testing identified a PHACTR1 gene mutation.

Conclusions

This case highlights fibromuscular dysplasia as an important cause of ischemic stroke in young adults and illustrates an unusually extensive arterial dissection associated with a PHACTR1 genetic variant. These findings support a genetically mediated vascular susceptibility spectrum and emphasize the importance of early recognition of non-atherosclerotic arteriopathies to guide diagnostic evaluation, individualized management, and secondary prevention.