Central Nervous System Structure and Function in Sturge-Weber Syndrome: Evidence of Neurologic and Radiologic Progression

Abstract

Sturge-Weber syndrome is characterized by the presence of a port-wine nevus, epilepsy, stroke-like episodes, headache, and developmental delay. We studied 20 cases to test the hypothesis that decreased cerebral blood flow alters neurologic function by affecting cellular glucose metabolism. Group A consisted of 10 patients with a mean age of 1.75 years and early seizure onset (6.8 months), whereas group B was composed of older patients (mean age, 15.3 years) with later onset of seizures (3.7 years). Neurologic disease was more severe in group A, but group B had more widespread structural brain defects - shown on computed tomographic scans and magnetic resonance imaging - and metabolic brain defects shown on hexamethylpropyleneamine oxime and [18F] fluorodeoxyglucose single photon emission computed tomographic scans. Six group A cases had hypoperfusion at baseline and five of nine had worsening of perfusion and glucose metabolism 1 year later. A total of 119 stroke-like episodes occurred in six group A cases and eight group B cases; there were 65% fewer strokes in children treated with aspirin. The data suggest that progressive hypoperfusion and glucose hypometabolism are associated with neurologic deterioration in Sturge-Weber syndrome. Longitudinal studies are needed to better define the natural history of disease and to evaluate the safety and efficacy of aspirin therapy.

Dynamic MR perfusion and proton MR spectroscopic imaging in sturge‐weber syndrome: Correlation with neurological symptoms

“…Blood flow in SWS was previously investigated using nuclear medicine techniques such as PET and SPECT (10,21,22). While PWI may be less quantitative than PET, it does offer advantages in that it enables functional assessment in the same study that provides superior morphological characterization, does not require ionizing radiation, and is able to differentiate venous vs. arterial causes of hypoperfusion.…”

“…In several cases, perfusion (single-photon emission computed tomography (SPECT) imaging) and metabolism (using [ 18 F] fluorodeoxyglucose SPECT) abnormalities were evident before structural abnormalities developed (9), which suggests that functional measures may be more sensitive for early diagnosis of the disease. Furthermore, Maria and colleagues (10) demonstrated that reductions in perfusion and glucose metabolism in a longitudinal study of several young patients corresponded to their neurological deterioration.…”

A Spectrum of Unusual Neuroimaging Findings in Patients with Suspected Sturge-Weber Syndrome

“…Aggressive treatment of epilepsy is advo- cated, 12 with some studies even suggesting neurodevelopmental benefits with prophylactic anticonvulsants before the onset of seizures. 13 Prophylactic daily aspirin 14 and early surgery when seizures are not controlled by medical treatment may also be of benefit. 12 SWS has a spectrum of clinical and imaging findings, and it is important to recognize those patients at the fringes of the spectrum who may benefit from therapies and monitoring applied in more conventional cases.…”

Recent advances in the study of somatic mosaicism and diseases other than cancer

“…This capillary dysplasia may occur on other parts of the body. Calcium deposits frequently occur within the abnormal leptomeningeal capillaries and these can be associated with seizures and delayed development [48]. Whole genome sequencing of paired affected and unaffected patient samples disclosed a unique arginine and glutamine mutation in GNAQ in 88% of affected samples from patients [49].…”