Urine vascular biomarkers in Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) consists of a capillary-venous vascular malformation of the brain, skin and eye. Urine vascular biomarkers have been demonstrated to be abnormal in other vascular anomalies and to correlate with clinical severity and progression. The current study investigated the use of urinary matrix metalloproteinase (MMP)-2, MMP-9, vascular endothelial growth factor (VEGF), and basic fibroblast growth factor (bFGF) levels to non-invasively monitor the progression of SWS. Fifty-four urine samples were collected from patients seen at the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. Urine was analyzed for MMP-2, MMP-9, VEGF and bFGF levels and correlated with clinical outcome at the time of urine collection (n = 48) and 1 year following urine collection (n = 22). Analysis revealed that MMP-2 (p = 0.033) and MMP-9 (p = 0.010) were significantly more likely to be present in the urine of SWS subjects compared to controls and that bFGF was significantly more likely to be present at abnormal levels (p = 0.005). MMP-2 correlated with a more severe clinical score at the time of urine collection, while both MMP-2 and MMP-9 levels correlated with greater disease severity at time of collection. bFGF levels correlated with improved clinical score 1 year after urine collection. These results suggest that MMP-2 and MMP-9 levels may be useful in assessing SWS progression, as well as indicating which patients might benefit from more aggressive treatment, while bFGF levels may be useful in judging the efficacy of neurologic treatment in SWS.

Stimulant use in patients with sturge-weber syndrome: safety and efficacy.

BACKGROUND: Sturge-Weber syndrome is characterized by a facial port-wine birthmark, vascular eye abnormalities, and a leptomeningeal angioma. Attention and behavioral issues are common in Sturge-Weber syndrome. However, literature evidence for stimulant treatment is minimal. This study evaluates stimulant medication safety and efficacy in individuals with Sturge-Weber syndrome. METHODS: The research database of the Hunter Nelson Sturge-Weber Center (n = 210 subjects in the database) was reviewed for stimulant use. Twelve patients (mean age 10.5 years, age range 4 to 21 years) on stimulants were seen between 2003 and 2012. A retrospective chart review obtained comorbid diagnoses, stimulant type and dosage, medication side effects, vital signs, and medication efficacy. RESULTS: All 12 patients had brain involvement (unilateral, nine; bilateral, three). Additional comorbidities included epilepsy (twelve), hemiparesis (eight), headaches (eight), and vision deficits (six). Eight patients reported side effects, primarily appetite suppression (four) and headaches (three). There were no statistically significant changes in weight or blood pressure 6 months after medication initiation. Medication efficacy was subjectively reported in 11 patients. Seven patients remained on stimulants at their most recent follow-up visit. CONCLUSIONS: This study preliminarily evaluates stimulant medication use in a small group of Sturge-Weber syndrome patients. Stimulants were tolerated and effective in most subjects. Side effects were mostly minor and medication did not negatively affect growth or vital signs. Stimulant medication may be a safe and effective intervention for Sturge-Weber syndrome children with attention issues/attention deficit hyperactivity disorder. Further studies with larger sample sizes are needed.