"深度解析斯特奇-韦伯综合征(SWS)及病理生理机制"

Sturge-Weber Syndrome (SWS) is a rare congenital neurocutaneous syndrome characterized by the presence of leptomeningeal, facial, and ocular choristomas. Also known as encephalotrigeminal angiomatosis, it is caused by the non-hereditary, sporadic somatic mutation in the GNAQ gene. The key pathological changes in SWS include the involvement of leptomeninges, facial trigeminal nerve distribution area, and choroid plexus vascular malformations. The affected brain tissue often exhibits local atrophy and calcification due to the presence of local vascular abnormalities and stasis. The pathophysiological mechanisms of SWS involve the formation of leptomeningeal vascular malformations, leading to venous blood stasis and subsequent changes in the venous drainage pattern. This results in increased pressure in the orbital veins and the development of characteristic port-wine stains on the face. Additionally, the affected brain areas experience venous stasis, reduced perfusion, and ischemia. Clinical manifestations of SWS can vary widely and may include seizures, cognitive impairment, glaucoma, neurological deficits, and developmental delays. The management of SWS typically involves a multidisciplinary approach, including the use of antiepileptic drugs for seizure control, ophthalmological assessments for early detection of glaucoma, and developmental interventions to address cognitive and motor impairments. In conclusion, Sturge-Weber Syndrome is a complex and challenging condition that requires a comprehensive understanding of its pathological and pathophysiological mechanisms, as well as a coordinated and multidisciplinary approach to management. Further research is needed to better understand the underlying genetic and molecular basis of the disease, and to develop targeted treatments to improve the outcomes for individuals affected by SWS.