Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Background: Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characteristic groups.

Methods: A total of 268 patients with brain involvement and a history of seizures were selected from a research data registry generated from a multicenter cross-sectional questionnaire.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS.

Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex.

Subependymal giant cell tumors (SGCTs) are observed in 5-20% of patients with tuberous sclerosis complex (TSC) but account for approximately 25% of neurological morbidity. The authors report the case of a 7-year-old girl with TSC and multiple cortical tubers who presented with worsening seizures in the context of the rapid growth of a cystic, calcified, extraventricular SGCT in the right frontal lobe, initially thought to represent a cortical tuber. The tumor and surrounding tubers were excised, and clinical seizures resolved.

Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex.

In patients with tuberous sclerosis complex (TSC), the high rates of mental retardation are associated with cortical tubers, seizure activity, and genetic factors. The goal of the study was to investigate the relationship between bilateral cortical tubers and seizure variables and mental retardation in individuals with TSC. The records of 27 patients with TSC (age 6 months to 33 years) undergoing neuropsychological assessment and the following clinical variables were examined: bilateral versus non-bilateral cortical tubers, the age of seizure onset, and presence of infantile spasms.

Developmental outcome of epilepsy surgery in tuberous sclerosis complex.

In Tuberous sclerosis complex (TSC), neurological dysfunction, usually in association with epilepsy, is responsible for the greatest degree of disease-related disability. Epilepsy surgery is increasingly recognized as a therapeutic option given the often medication-resistant nature of the disease. Seven subjects with medically refractory epilepsy associated with TSC, who underwent surgery at a tertiary care epilepsy center and in whom both preoperative and postoperative neuropsychological data were available, were examined.

Epilepsy, atherosclerosis, myocardial infarction, and carbamazepine.

Epileptic patients receiving medications such as phenytoin or phenobarbital have been noted to have an exceedingly low incidence of myocardial infarction, but children treated with carbamazepine have shown alteration of their serum lipid profile that could predispose them to atherosclerosis. This report seems to corroborate this point and describes the findings in an 11-year-old boy who died following a major seizure, rhabdomyolysis, and renal failure. The autopsy demonstrated that he had marked coronary atherosclerosis and myocardial infarction.

Treatment of attention-deficit disorder, cerebral palsy, and mental retardation in epilepsy.

Epilepsy in childhood is often associated with other neurologic disorders, including attention-deficit/hyperactivity disorder, cerebral palsy, and mental retardation. A single pathologic process may explain both epilepsy and these associated disorders. However, in some cases, distinct etiologies may be present.