Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

Importance: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking. Objective: To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs). Evidence Review: In this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended. Findings: Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis. Conclusions and Relevance: These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.

Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study.

BACKGROUND: Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts, and the clinical factors associated with suicide risk, in patients with Sturge-Weber syndrome is unknown. METHODS: As a part of routine hospital practice, all outpatients aged eight years and older underwent suicide risk screening during nursing triage using a standardized suicide screening tool. Suicide risk screening results, demographic variables, and medical history (as available) for patients with Sturge-Weber syndrome (N = 34; median age = 15.5; range = 8 to 47 years, 44% male) and other neurological conditions seen at the same institution (N = 369; median age = 14; range = 8 to 78 years, 66% male) were used for retrospective within- and between-group analysis. RESULTS: In the combined sample of Sturge-Weber syndrome and neurologically involved patients, a positive suicide risk screen was related to Sturge-Weber syndrome diagnosis (P = 0.043); analysis by sex showed increased risk of Sturge-Weber syndrome diagnosis in males (P = 0.008), but not in females. Within the Sturge-Weber syndrome group, use of a selective serotonin reuptake inhibitor (P = 0.019) was related to a positive risk screen. CONCLUSION: People with Sturge-Weber syndrome may be at greater risk of suicidal thoughts or behaviors than those with other neurological conditions. Further study of suicide risk in patients with Sturge-Weber syndrome is needed.

Quality of Life in Children With Sturge-Weber Syndrome.

AIM: We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS: Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome-related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. RESULTS: Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = -0.46, P = 0.04), total eyelid port-wine birthmark (R = -0.56, P = 0.007), eye (R = -0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = -0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant. CONCLUSIONS: The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.

Courtesy Stigma and Social Support: An Exploration of Fathers' Buffering Strategies and Blocking Rationalizations.

This study extends scholarship on stigma management communication and social support by exploring the experiences of fathers of children living with a rare health condition, Sturge-Weber Syndrome. Findings from this interview-based interpretive study reveal that fathers assuaged the negative effects of stigma on their children-and courtesy stigma on themselves-by employing buffering strategies, including reactive and preemptive information sharing, preparatory conversations, and support blocking. Further, fathers offered three rationalizations for their blocking behaviors-reasoning that to accept support would violate social norms, as well as privacy expectations and that accepting support was not worth the effort (social exchange). These findings encourage scholars to continue to upend predominant constructions of masculinity and also call to question prevailing assumptions about the relationship between technology and privacy.

Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement.

PURPOSE: Most children with Sturge-Weber syndrome (SWS) develop seizures that may contribute to neurocognitive status. In this study, we tested the hypothesis that very early seizure onset has a particularly detrimental effect on the cognitive and/or motor outcomes of children with unilateral SWS. We also tested whether side of SWS brain involvement modulates the effect of seizure variables on the pattern of cognitive abnormalities. METHODS: Thirty-four children (22 girls; mean age 6.1years) with unilateral SWS and history of epilepsy in a longitudinal cohort underwent neurological and cognitive evaluations. Global intelligent quotient (GIQ), verbal intelligent quotient (VIQ), nonverbal intelligent quotient (IQ), and motor function were correlated with epilepsy variables, side and extent of brain involvement on magnetic resonance imaging (MRI). RESULTS: Mean age at seizure onset was 1.3years (0.1-6years) and mean IQ at follow-up was 86 (45-118). Age at seizure onset showed a logarithmic association with IQ, with maximum impact of seizures starting before age 1year, both in uni- and multivariate regression analyses. In the left SWS group (N=20), age at seizure onset was a strong predictor of nonverbal IQ (p=0.001); while early seizure onset in the right-hemispheric group had a more global effect on cognitive functions (p=0.02). High seizure frequency and long epilepsy duration also contributed to poor outcome IQ independently in multivariate correlations. Children with motor involvement started to have seizures at/before 7months of age, while frontal lobe involvement was the strongest predictor of motor deficit in a multivariate analysis (p=0.017). CONCLUSION: These findings suggest that seizure onset prior to age 1year has a profound effect on severity of cognitive and motor dysfunction in children with SWS; however, the effect of seizures on the type of cognitive deficit is influenced by laterality of brain involvement.

Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding.

To evaluate metabolic changes in the ipsi- and contralateral hemisphere in children showing a cognitive profile consistent with early reorganization of cognitive function, we evaluated the regional glucose uptake, interhemispheric metabolic connectivity, and cognitive function in children with unilateral SWS. Interictal 2-deoxy-2[18 F]fluoro-D-glucose (FDG)-PET scans of 27 children with unilateral SWS and mild epilepsy and 27 age-matched control (non-SWS children with epilepsy and normal FDG-PET) were compared using statistical parametric mapping (SPM). Regional FDG-PET abnormalities calculated as SPM(t) scores in the SWS group were correlated with cognitive function (IQ) in left- and right-hemispheric subgroups. Interhemispheric metabolic connectivity between homotopic cortical regions was also calculated. Verbal IQ was substantially (≥10 points difference) higher than non-verbal IQ in 61% of the right- and 71% of the left-hemispheric SWS group. FDG SPM(t) scores in the affected hemisphere showed strong positive correlations with IQ in the left-hemispheric, but not in right-hemispheric SWS group in several frontal, parietal, and temporal cortical regions. Significant positive interhemispheric metabolic connectivity, present in controls, was diminished in the SWS group. In addition, the left-hemispheric SWS group showed inverse metabolic interhemispheric correlations in specific parietal, temporal, and occipital regions. FDG SPM(t) scores in the same regions of the right (unaffected) hemisphere showed inverse correlations with IQ. These findings suggest that left-hemispheric lesions in SWS often result in early reorganization of verbal functions while interfering with ("crowding") their non-verbal cognitive abilities. These cognitive changes are associated with specific metabolic abnormalities in the contralateral hemisphere not directly affected by SWS.

Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. / Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas.

INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. MATERIAL AND METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study.

BACKGROUND: Sturge-Weber syndrome is often accompanied by seizures and neurocognitive deterioration, although previous studies have suggested that early functional brain reorganization may diminish the cognitive sequelae in some children with unilateral Sturge-Weber syndrome. The "rules" governing these plasticity mechanisms are poorly understood. In this study, we evaluated longitudinal changes of cognitive functioning (intelligence quotient [IQ]) and assessed the performance of clinical, electroencephalography (EEG), and magnetic resonance imaging (MRI) variables for predicting IQ in children with Sturge-Weber syndrome. METHODS: Thirty-three young children (mean age: 3.3 years at baseline) with unilateral Sturge-Weber syndrome underwent MRI, scalp EEG, and neuropsychology evaluation twice, with a median follow-up of 2 years. None of the children had epilepsy surgery. Longitudinal IQ changes were calculated. Seizure variables, interictal EEG abnormalities, and extent and location of MRI brain involvement were correlated with IQ assessed at follow-up. RESULTS: Global IQ showed a highly variable course with both increases and decreases over time. Lower IQ at baseline was associated with interval IQ increase. In univariate analyses, lower outcome IQ was associated with baseline EEG abnormalities (P < 0.001), young age at seizure onset (P = 0.001), high seizure frequency (P = 0.02), and early frontal-lobe involvement on MRI (P = 0.01). In multivariate analysis, EEG abnormalities at baseline remained a robust, independent predictor of outcome IQ. CONCLUSIONS: The early trajectory of cognitive changes in children with unilateral Sturge-Weber syndrome is highly variable; children with improving IQ likely undergo effective unimpeded functional reorganization. Early onset, frequent seizures, and interictal epileptiform abnormalities on EEG likely interfere with this process resulting in poor cognitive functions. Future studies assessing interventions should target this high-risk subgroup to optimize cognitive outcome in Sturge-Weber syndrome.

Síntomas psicóticos en la enfermedad de Sturge-Weber / Psychotic symptoms in Sturge-Weber syndrome

El síndrome de Sturge-Weber (SSW) es una anomalía congénita de origen desconocido caracterizada por angioma cutáneo, glaucoma congénito, calcificaciones intracraneales, crisis epilépticas, retraso intelectual y hemiparesia contralateral. Desde el punto de vista psiquiátrico el SSW se asocia típicamente a cuadros afectivos, trastornos adaptativos y alteraciones conductuales. Los síntomas psicóticos son poco frecuentes y suelen caracterizarse por la presencia de delirios de contenido paranoide. El presente artículo hace una pequeña revisión sobre las características clínicas y los criterios diagnósticos clásicos de este síndrome y presenta un caso clínico de una mujer de 48 años aquejada del SSW que muestra episodios psicóticos con delirios y alucinaciones auditivas y visuales que precisaron ingreso hospitalario. La paciente tenía una conciencia parcial de enfermedad y mejoró con el uso de un antipsicótico vía parenteral (palmitato de paliperidona). El presente caso tiene importancia clínica y puede servir para que otros profesionales sepan cómo diagnosticar y tratar dicho síndrome (AU)

Sturge-Weber syndrome (SWS) congenital anomaly of unknown origin, and is characterised by cutaneous angioma, congenital glaucoma, intracranial calcifications, epileptic seizures, intellectual retardation, and contralateral hemiparesis. From a psychiatric point of view, SWS is typically associated with affective symptoms, adaptive disorders, and behavioural changes. Psychotic symptoms are uncommon and are usually characterised by the presence of a paranoid-type delirium. This article presents a short review of the clinical characteristics and classic diagnostic criteria of this syndrome, as well as presenting a case of a 48 year-old women suffering from SWS who had psychotic episodes with delirium and auditory and visual hallucinations that required hospital admission. The patient was partially aware of the disease, and improved with the use of parenteral antipsychotics (paliperidone palmitate). The case presented is of clinical importance and may enable other professionals to know how to diagnose and treat this syndrome (AU)

Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients.

Sturge-Weber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, stroke-like episodes, and mental retardation. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with Sturge-Weber syndrome followed up from January 1985 to May 2010. Of the patients, 15 were males, age at diagnosis ranged from 1 month to 43 years. Typical port-wine stain nevus occurred in 26 (86%), it was bilateral in 2 (8%), and it was absent in 4 (4%). Nine patients had glaucoma (30%), 3 required surgery. Four had transient hemiparesis. All patients had seizures; they were well controlled in 22 (73.3%); in 8 they remained drug resistant. Three patients underwent surgery and became seizure-free. Of the 17 who had mental subnormality, 14 (82.4%) had seizure onset before 2 years. An early age at seizure onset and those with drug-resistant seizures had more severe degree of mental subnormality. Uncontrolled seizures, mental subnormality, visual handicap, and cosmetic disfiguration were the major impediments in life.

Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures.

Although Sturge-Weber (SWS) syndrome is associated with behavioral and academic problems in childhood, it is unknown whether those problems are concomitants of the disorder itself or of the seizure disorder that is common in SWS. We compared two groups of children with SWS-- one with seizures (n=20) and one without seizures (n=14)--on parent-report and teacher-report measures of behavioral and academic functioning. The two subgroups were compared with each other as well as with children with epilepsy alone (n=29) and a group of healthy controls (n=21). The SWS group with seizures was more impaired than the seizure-free group on 9 of 15 measures and the children with seizures were 10 times as likely to have received special education services. Overall, children with SWS and seizures were similar to the epilepsy group, whereas children with SWS and no seizures were similar to the controls.

Brain damage and IQ in unilateral Sturge-Weber syndrome: support for a "fresh start" hypothesis.

We tested the hypothesis that extent of severe hypometabolism measured by fluorodeoxyglucose PET has a U-shaped (nonlinear) relationship to IQ in children with unilateral Sturge-Weber syndrome. Thirty-five consecutive children (age range: 30-153 months) with Sturge-Weber syndrome and unilateral brain involvement were enrolled in the study. Participants underwent cognitive assessment and interictal fluorodeoxyglucose PET scans. Regression analyses tested whether a quadratic model best accounted for the relationship between extent of severe cortical hypometabolism and IQ, controlling for seizure variables. A significant quadratic relationship was found between IQ and extent of severe (but not total) hypometabolism. Seizure variables also contributed significant variance to cognitive functions. Results suggest that intermediate size of severe hemispheric hypometabolism is associated with the worst cognitive outcomes, and small or absent lesions, with the best cognitive outcomes. Children in whom a very large extent of the hemisphere is severely affected are likely to have relatively preserved cognitive function.

Sturge-Weber syndrome: neurology-psychiatry interface.

This is a case of a 22-year-old male who was born with a port-wine stain on right side of his face, developed seizures at the age of 2, was not able to complete formal education in a school. MRI revealed intracranial calcification and left-sided brain atrophy. He had diagnosis of Sturge-Weber syndrome. Since the time of adolescence, he developed psychiatric problems and hence was treated with psychotropic medications. This case remains under the domain of psychiatry as well as neurology and calls for joint management. A number of presentations with Sturge-Weber syndrome have been reported in the literature that poses problems in terms of appropriate medical management. A classical syndrome like this invites serious attention of both psychiatrists and neurologists to devise appropriate drug treatment with a view of interactions, side effects, complications and prognosis.

Behavioral and psychiatric features of Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is characterized by seizures, port-wine birthmarks, vascular malformations, and rarely studied psychobehavioral features. This study describes a small group of outpatients (N = 16, age, 3-34 years) with Sturge-Weber syndrome seeking medical services (due to seizures, ophthalmological, and dermatological problems among others). The patients were screened for psychiatric diagnoses. The most frequent diagnoses were mood disorder (31%), disruptive behavior disorder (25%), and adjustment disorder (25%). A substance-related disorder was the most frequent in adults (67%). A significant association was found between disruptive behavior disorder not otherwise specified and more left frontal and left parietal involvement. A trend toward significant association of having a seizure in the past 3 months with disruptive behavior disorder not otherwise specified was observed. Problems with mood, attention, sleep, learning, and substance use were common. Disruptive behavior disorders and their association with medical conditions should be further investigated.

Neuropsychological features and risk factors in children with Sturge-Weber syndrome: four case reports.

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and/or visual field cut. The four cases presented here (ages 8-9, two females) illustrate the broad range of physiologic involvement and associated neuropsychological functioning in SWS, and argue against the idea of a "typical" SWS neuropsychological presentation. Rather, we highlight a preliminary collection of disease status/severity factors thought to impact neuropsychological presentation in SWS, including degree of cortical involvement (unilateral versus bilateral; posterior only versus posterior/anterior), age at time of seizure onset, extent of seizure control, history of stroke-like episodes, and magnitude of neurologic decline/deficit. We discuss the need for broad-based assessment in this medical population, as various impairment combinations (e.g., perceptual, language, executive) create unique presentations as well as the need for individualized intervention.

Hemiparesis is a clinical correlate of general adaptive dysfunction in children and adolescents with Sturge-Weber syndrome.

This study sought to identify neurologic correlates of adaptive functioning in individuals with Sturge-Weber syndrome. A total of 18 children, adolescents, and young adults with Sturge-Weber syndrome with brain involvement were recruited from our Sturge-Weber center. All underwent neurologic examination (including review of clinical brain magnetic resonance imaging) and neuropsychological assessment. Neuropsychological assessment included measures of intellectual ability and standardized parent report of adaptive functioning. Overall, Full Scale IQ and ratings of global adaptive functioning were both lower than the population-based norms (P < .05). Negative correlations were identified between adaptive functioning ratings, clinician ratings of cortical abnormality, and ratings of neurologic status. Hemiparesis (minimal versus prominent) was the only individual component of the rating scales that differentiated between individuals with nonimpaired and impaired adaptive functioning scores. Information obtained during neurological examination of children and adolescents with Sturge-Weber syndrome particularly hemiparetic status is useful for identifying children who may need additional intervention.

Late-onset epilepsy in a surgically-treated Sturge-Weber patient.

Sturge-Weber syndrome is a rare, congenital, neurocutaneous disorder. It can be associated with a variety of symptoms including severe epilepsy. Patients often become symptomatic during childhood and the severity of the epilepsy correlates with the patient's neurological outcome. The patient reported here remained asymptomatic until age 24, when he started to experience migraine accompanied by visual scotoma and hemiparesis. Ten years later, he developed severe, refractory epilepsy, with prolonged postictal neurological deficits and ictal as well as post-ictal headaches. It became increasingly difficult to distinguish between migraines and seizures as both could last for several hours, as demonstrated in the two video EEGs. Both the epilepsy and the migraine may therefore have contributed to the patient's severe, neurological deterioration, probably by accelerating the progressive neuronal damage. Surgery improved the situation, but lesional areas were too extensive for complete removal. Late-onset symptoms in Sturge-Weber syndrome may thus result in a severe course for the disease. Early intervention and surgical treatment options are discussed.

White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome.

OBJECTIVE: To assess the role of gray and white matter volume loss vs seizures in cognitive impairment of children with Sturge-Weber syndrome with unilateral involvement. DESIGN: Patients were enrolled in this prospective cohort during a period of 3 years. SETTING: Pediatric neurology clinic with national referral through the Sturge-Weber Foundation. PARTICIPANTS: Twenty-one children (age range, 1 year 6 months to 10 years 4 months) with unilateral Sturge-Weber syndrome. MAIN OUTCOME MEASURES: Cortical gray matter and hemispheric white matter volumes were measured on segmented volumetric magnetic resonance imaging and correlated with the age of the participants. Global intellectual function (IQ) was correlated with magnetic resonance imaging and seizure variables in both univariate and multivariate analyses. RESULTS: Both gray and white matter volumes showed an age-related linear increase. Tissue volumes on the side of the angioma showed a positive correlation with IQ after controlling for age in univariate regression analyses (white matter, r = 0.71, P < .001; gray matter, r = 0.48, P = .03), while seizure variables did not correlate with IQ (P > .1). A multivariate regression showed that hemispheric white matter volume ipsilateral to the angioma was an independent predictor of IQ (R = 61, P = .006), which also showed a negative correlation with age (R = - 0.52, P = .022) but no correlation with gray matter volumes. CONCLUSIONS: Early hemispheric white matter loss may play a major role in cognitive impairment in children with Sturge-Weber syndrome. Future therapeutic approaches should aim at preserving white matter integrity in addition to seizure control to improve cognitive outcome.

Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide.

BACKGROUND: 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. OBJECTIVE: To examine the natural history of patients who underwent hemispherectomy and identify the outcomes in terms of seizure reduction, cognition, and motor deficits. METHODS: A questionnaire was mailed to the parents of patients identified by the Sturge-Weber Foundation as having had a hemispherectomy between 1979 and 2001. Forty-six percent (32/70) of the parents responded. RESULTS: The mean age at onset of seizures was 4 months, and the median age at surgery was 1.2 years. Children had 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 severe 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.

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures.

Patients with Sturge-Weber syndrome often present with seizures during the first year of life. Currently, only patients with clinically significant seizures who do not respond to medical treatment are candidates for early epileptic surgery. However, a delay of surgical treatment may result in cognitive deterioration. We studied the correlation between parameters and outcome of seizures to re-examine the criteria for early epilepsy surgery. We performed a retrospective chart review combined with telephone interviews of parents of all Israeli infants with unilateral Sturge-Weber syndrome and early onset seizures, and we examined whether age of seizure onset and seizure intensity were correlated with cognitive level and the degree of hemiparesis at follow-up. We recruited a total of 15 patients with unilateral Sturge-Weber syndrome and early onset seizures, five of whom underwent epilepsy surgery. The mean follow-up period of all the patients was 15 years: six patients had normal intelligence, four had borderline cognitive level, three had mild mental retardation and two had moderate mental retardation. Eight of the ten non-operated patients still experience seizures at follow-up. Cognitive delay was significantly correlated with seizure intensity in the early period, but not with the age of seizures onset, the degree of hemiparesis, or the presence of ongoing seizures. We conclude that high seizure intensity in young patients with Sturge-Weber syndrome is a prognostic marker for mental deterioration.