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<p>Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder caused by somatic mutations in the <i>GNAQ</i> gene, resulting in capillary-venous malformations involving the brain, skin, and eyes. Neurological involvement arises from impaired cortical venous drainage and progressive venous congestion, which can lead to irreversible brain injury characterized by hypoperfusion, gliosis, atrophy, and calcifications. Seizures commonly develop before the age of 2, underscoring the importance of early recognition. Magnetic resonance imaging (MRI) plays a central role in evaluating cerebral involvement in SWS. Although conventional MRI is widely used to identify late-stage features like pial-arachnoid enhancement and cortical atrophy, it also holds potential for detecting early changes when interpreted within the appropriate clinical context. Advanced MRI techniques, including susceptibility-weighted imaging and arterial spin labeling perfusion, provide enhanced sensitivity for identifying early perfusion disturbances and venous anomalies, offering important insights into the progressive pathophysiology of the disease. This review highlights the complementary roles of conventional and advanced MRI techniques in detecting early and evolving imaging features of SWS, pairing imaging findings with its underlying pathophysiology, to support timely diagnosis.</p> Graphical Abstract <p></p>

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Beyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月25日

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  • Carmen R. Cerron-Vela,
  • Amirreza Manteghinejad,
  • Savvas Andronikou

摘要

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder caused by somatic mutations in the GNAQ gene, resulting in capillary-venous malformations involving the brain, skin, and eyes. Neurological involvement arises from impaired cortical venous drainage and progressive venous congestion, which can lead to irreversible brain injury characterized by hypoperfusion, gliosis, atrophy, and calcifications. Seizures commonly develop before the age of 2, underscoring the importance of early recognition. Magnetic resonance imaging (MRI) plays a central role in evaluating cerebral involvement in SWS. Although conventional MRI is widely used to identify late-stage features like pial-arachnoid enhancement and cortical atrophy, it also holds potential for detecting early changes when interpreted within the appropriate clinical context. Advanced MRI techniques, including susceptibility-weighted imaging and arterial spin labeling perfusion, provide enhanced sensitivity for identifying early perfusion disturbances and venous anomalies, offering important insights into the progressive pathophysiology of the disease. This review highlights the complementary roles of conventional and advanced MRI techniques in detecting early and evolving imaging features of SWS, pairing imaging findings with its underlying pathophysiology, to support timely diagnosis.

Graphical Abstract