2014 Completed Studies

2008 A. Wilfong, C. Buck, K. Ball, Presented at the annual American Epilepsy Society meeting

Sturge-Weber Syndrome: Trends in Epilepsy Therapy

Sturge-Weber Syndrome (SWS) is rare and is commonly associated with epilepsy. The purpose of this survey was to further define the incidence of specific neurologic complications and evolving trends in therapy in the community.An on-line survey was sent through the World Wide Web to members of the Sturge-Weber Foundation. The survey gathered demographic and medical information regarding individuals with SWS.RESULTS: 101 patient responses were received from the following countries: USA, UK, South Africa, Italy, Turkey, Australia, Ireland, Israel, and India. There were 43 males and 58 females. Port-wine birthmarks were present on the right face in 51, left face in 55 and involved the body in 16. Forty-eight patients have glaucoma, 30 have migraine headaches and 70 have epilepsy. Seventy-seven patients have taken or are currently taking antiepileptic drugs (AEDs). The three most common AEDs taken in the past are Phenobarbital in 30 (39%), Phenytoin in 27 (35%) and Carbamazepine in 23 (30%). The three most common AEDs that are currently being taken are Levetiracetam in 22 (29%), Carbamazepine in 21 (27%) and Oxcarbazepine in 17 (22%). Five patients have received vagus nerve stimulation and 12 have had resective epilepsy surgery.CONCLUSIONS: Epilepsy is common in SWS occurring in 70% of patients. There appears to be a trend in AED therapy toward using the newer medications with Levetiracetam, Carbamazepine and Oxcarbazepine being the most commonly used. AEDs selected for use in SWS are most commonly sodium-channel blocking agents, likely reflecting the localization-related nature of their epilepsy. Resective epilepsy surgery was performed in 12% of this patient population.


2006 - PD Dr. Franz Grus, PhD, MD; University of Mainz Germany

"Analysis of Antibody Profiles in SWS Patients Compared to Glaucoma Patients”


The study analyzed antibody profiles in individuals with SWS versus individuals with glaucoma. The study sought to identify antibody biomarkers in SWS. Biomarker is a general term for any biological or chemical substance that is an indicator of an underlying process (such as an autoimmune process).


2006 - "Angiogenesis in the Nervous System" NINDS, ORD, SWF; Bethesda, MD


The SWF co-hosted this workshop on angiogenesis and ½ day satellite meeting to discuss the genetics and vascular phenotypes in Sturge-Weber syndrome. The workshop discussed development of the vascular system, angiogenic remodeling in adults, angiogenesis in the aging brain, disorders of vascular development and therapeutic approaches.SWF Facilitated


Clinical ResearchOngoing - Kevin Whitehead, MD, Howard Hughes Institute , Salt Lake City, Utah

The SWF has been working with Dr. Whitehead and colleagues at the Howard Hughes Institute to investigate and identify the inherited causes of SWS and KT. The SWF identifies patients with SWS and congenital cardiovascular problems for inclusion in the study and then facilitates participation. The chromosomes in the DNA taken from blood samples are examined. The scientists are particularly interested in families with multiple family members with a port wine stain


2003 Eric Kossoff, MD; Carol Buck; and John M. Freeman, MD

"Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide" Johns-Hopkins, Baltimore, MD

Epilepsy affects 80% of patients with Sturge-Weber syndrome; the majority of seizures begin before the age of 1. When seizures are intractable to medications and unihemispheric, hemispherectomy is often advised. In this study, The mean age at onset of seizures was 4 months, and the median age at surgery was 1.2 years. Children failed to respond to 3.7 anticonvulsants prior to surgery and averaged 387 seizures/month. Forty-seven percent had complications (e.g., hemorrhage and hypertension) in the perioperative period; however, 81% are currently seizure-free, with 53% off anticonvulsants. Hemispherectomy type (anatomic versus functional versus hemidecortication) did not influence outcome. Age at onset of seizures did not predict seizure freedom; however, an older age at hemispherectomy was positively correlated. Postoperative hemiparesis was not more sever than before surgery. Cognitive outcome was not related to the age at operation, side of operation, or seizure freedom. CONCLUSIONS: Children undergoing hemispherectomy presented at a young age and had frequent seizures for approximately 1 year but are now mostly seizure-free. Age at surgery did not have an adverse effect on either seizure or cognitive outcomes.


A. Rebarber, MD; A. S. Roman, MD, MPH; D. Roshan, MD; F. Blei, MD. NYU School of Medicine, Departments of Obstetrics / Gynecology, Pedriatrics,
and Plastic Surgery

" Obstetrical Management of Patients with Klippel-Trenaunay Syndrome"

Successful pregnancy outcomes can be safely achieved in patients with Klippel-Trenaunay syndrome. Successful pregnancy outcome was achieved in all pregnancies with delivery at or beyond 36 weeks of gestation. One of the four pregnancies was complicated by pulmonary embolism. Hereditary thrombophilia evaluation in two of the three patients was significant for heterozygous prothrombin gene mutation. Secondarily, we reviewed 62 respondents to our questionnaire. There were 20 women who had a total of 33 successful deliveries. Obstetrical complications in this cohort included an increased rate of preeclampsia (20% versus 7% in the general population), an increased frequency of thromboembolic events, and an increased rate of cesarean delivery (50% versus 18%).


Ryan S. Miller, MD1, Karen Ball2, Anne M. Comi, MD3, Emily L. Germain-Lee, MD1

Growth Hormone Deficiency in Children with Sturge-Weber Syndrome

Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations of the skin, eye and central nervous system. Given the aberrant vasculature and calcifications that often occur within the central nervous system in SWS, one would suspect that the hypothalamic-pituitary axis would be at risk for impairment. To date, there have been no studies examining the endocrine abnormalities of this condition. We reviewed the records of 19 patients with possible growth hormone (GH) deficiency identified from 1653 patients in a registry maintained by The Sturge-Weber Foundation. We were able to verify GH deficiency in 10 patients, thereby yielding a prevalence of 0.61%, which is 21-fold higher than the general population prevalence of 0.03%. We would expect that there are other patients with SWS who have GH deficiency who have not yet been tested, and suspect that the prevalence is significantly higher than 0.61%. The present study highlights the importance of considering GH deficiency as the etiology for growth failure in a child with SWS. Proper evaluation and treatment of GH deficiency in children with SWS can prevent sequelae of GH deficiency, including linear growth failure, obesity, decreased bone mineral density, compromised renal and cardiac function, elevated lipids and overall decreased sense of well-being.