Unveiling Sturge-Weber Syndrome: Navigating Bilateral Cerebral Involvement

Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurological disorder characterized by a congenital facial port-wine stain, neurological abnormalities, and eye involvement. It primarily manifests as a 'port-wine stain' on the face, seizures, intellectual disability, and visual impairments. While classically unilateral, SWS can present with bilateral cerebral involvement, complicating diagnosis and management. The presence of these characteristics aids in the initial identification of the syndrome, prompting further investigation into the extent of neurological and ocular involvement.

Bilateral cerebral involvement in SWS signifies that both hemispheres of the brain are affected by angiomatous changes, leading to more severe and varied clinical presentations. Recognizing bilateral disease is critical because it significantly impacts the prognosis and treatment strategies for affected individuals. Patients with bilateral intracranial disease typically experience more severe, intractable seizures. Early and accurate diagnosis of bilateral SWS is crucial, as further ischemic injury can lead to a calcified, non-functioning cortex.

The neurological dysfunction in SWS arises from secondary effects on brain tissue, including hypoxia, venous occlusion, thrombosis, infarction, and vasomotor phenomena. Hypoxia refers to the reduced oxygen supply to brain tissue due to abnormal blood vessels. Venous occlusion is the blockage of veins, leading to increased pressure and potential damage. Thrombosis is the formation of blood clots, further impeding blood flow. Infarction is tissue death due to lack of blood supply, and Vasomotor Phenomena refers to abnormal constriction or dilation of blood vessels. These factors contribute to the progressive neurological decline observed in affected individuals. Bilateral involvement exacerbates these effects, leading to more severe manifestations.

The etiology of Sturge-Weber Syndrome is believed to stem from the persistence of embryonal blood vessels and their secondary effects on surrounding brain tissue. During fetal development, a vascular plexus forms around the neural tube, destined to become facial skin. Normally, this plexus regresses by the ninth week of gestation. In SWS, this regression fails, resulting in residual vascular tissue that forms angiomas of the leptomeninges, face, and ipsilateral eye. These vascular abnormalities disrupt normal brain function through various mechanisms, ultimately leading to the manifestations of SWS.

While bilateral cutaneous involvement occurs in about 32.5% of cases, bilateral intracranial involvement is seen in only 7.5% of cases. This relative infrequency makes accurate diagnosis more challenging, requiring clinicians to have a high index of suspicion and utilize advanced imaging techniques to assess the extent of brain involvement. Furthermore, the complex management of bilateral SWS necessitates individualized treatment plans that address the specific neurological and vascular manifestations in both hemispheres of the brain. The rarity of bilateral SWS also highlights the need for continued research to better understand the underlying mechanisms and to develop targeted therapies that can improve outcomes for affected individuals. This includes exploring novel approaches to seizure control, neuroprotection, and vascular management to mitigate the long-term neurological sequelae associated with bilateral cerebral involvement.