Clinical outcomes in bilateral Sturge-Weber syndrome

Abstract

Approximately 15% of patients with Sturge-Weber syndrome demonstrate bilateral intracranial involvement, and the prognosis of these patients is considered particularly unfavorable. We reviewed the clinical and neuroimaging features of patients with Sturge-Weber syndrome and bilateral intracranial involvement. Seizure variables, the presence of hemiparesis, and the degree of developmental impairment at most recent follow-up were compared with imaging abnormalities. Of 110 Sturge-Weber syndrome patients, 14 demonstrated bilateral brain involvement, with an asymmetric pattern on glucose metabolism positron emission tomography. Although most patients manifested frequent seizures initially, associated with frontal hypometabolism on positron emission tomography, six (43%) had achieved good seizure control during follow-up. Bilateral frontal hypometabolism was associated with severe developmental impairment. Two children with bitemporal hypometabolism exhibited autistic features. Hemiparesis was associated with superior frontal (motor cortex) hypometabolism. Three patients underwent resective surgery, resulting in improved seizure control and developmental outcomes. The severity of neurologic complications and clinical course depend on the extent of cortical dysfunction in bilateral Sturge-Weber syndrome. Bilateral frontal and temporal hypometabolism is associated with poor developmental outcomes. Good seizure control and only mild/moderate developmental impairment can be achieved in about 50% of patients with bilateral Sturge-Weber syndrome, with or without resective surgery.

Figure 1

Representative axial images of the T1 weighted postgadolinium MRI (A) and glucose PET images (B) of patient # 4. This child had poor seizure control, severe developmental impairment and left hemiparesis at the time of the PET scanning. The MRI showed severe bilateral brain atrophy with extensive bihemispheric leptomeningeal angiomatosis and bilateral enlargement of the choroid plexus. The glucose metabolism of the entire right hemisphere was decreased. Additionally, the left frontal and occipital cortex was also hypometabolic, and only the temporal and parietal cortex showed preserved glucose metabolism on the left side (solid arrows). L: left; R: right.

Figure 2

Axial image planes of the glucose PET scan of patient # 5, whose developmental impairment was mild/moderate. However, he developed autistic behavioral features. His PET scan demonstrated bilateral (right more severe than left) temporal hypometabolism (solid arrows) as well as bilateral parietal and right occipital hypometabolism.