Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.

Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.  Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.

Incidence of and Risk Factors for Fellow-Eye Involvement in Sturge-Weber Syndrome Children With Unilateral Glaucoma.

PRCIS: Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier first-eye surgery relative to the noninvolvement group. PURPOSE: The aim of this study was to determine the incidence of and risk factors for fellow-eye involvement in children with unilateral SWS-associated glaucoma. MATERIALS AND METHODS: Children diagnosed with a unilateral facial port-wine stain and ipsilateral glaucoma before the age of 5 and followed up for at least 5 years were enrolled. The incidence rates of fellow-eye glaucoma involvement were estimated per 100 person-years, and factors associated with a higher incidence of fellow-eye involvement were investigated. RESULTS: A total of 47 children [24 (51.1%) girls] with unilateral SWS-associated glaucoma were included. All of them had facial port-wine stain involving ophthalmic division of the trigeminal nerve, and 18 (38.3%) had neurological comorbidities. The mean age at glaucoma diagnosis was 0.8±1.2 years [range, 0.08 (1 mo)-4.0 y]. Over a median follow-up of 8.4 years, glaucoma was diagnosed in the fellow eye of 7 of the children (14.9%; incidence rate of 1.8 per 100 person-years), 6 of whom were girls ( P =0.097) and 5 of whom were diagnosed before the age of 4 years ( P =0.508). The fellow-eye-involvement group showed significantly higher mean follow-up intraocular pressure in the fellow eye, older age at first-eye surgery (both P <0.005), and higher frequency of choroidal hemangioma both at first onset and in fellow eyes ( P =0.026 and 0.019, respectively). CONCLUSIONS: In this cohort of SWS children diagnosed with unilateral glaucoma, the risk of fellow-eye involvement was higher in girls, within the first 4 years, and in cases with choroidal hemangioma. The fellow-eye-involved children underwent surgery on the first eye earlier than those without fellow-eye involvement.

Sturge-Weber Syndrome: A Case Report.

Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome. Keywords: brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.

The prevalence and profile of autism in Sturge-Weber syndrome.

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Children had a relative strength in social awareness and social motivation, which are typically much reduced in people with autism. This finding may explain why, to date, the diagnosis has often been overlooked in this population. The research therefore suggests that children with Sturge-Weber should be screened to identify social communications difficulties and provided with timely support.

Neurological presentations and cognitive outcome in Sturge-Weber syndrome.

INTRODUCTION: This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments. METHODS: A retrospective case note review was conducted at a national centre. RESULTS: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability ("ID": IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus 57% (80), hemiplegia 58% (81), headaches 36% (50) and acutely acquired neurological deficits lasting over 24 h 40% (56). One-seventh (20) were PWS(-). This group had: fewer lobes with angioma (p < 0.0001); and less frequent ID (p = 0.002) or language disorder (p = 0.013). Seizure frequency and status epilepticus prevalence did not differ from PWS(+). ID and language disorder were associated with: more lobes with angioma; earlier seizure onset; more frequent status epilepticus and seizure clusters. On multivariable analysis recurrent status epilepticus (p = 0.037) and multi-lobe involvement (p = 0.002) increased the risk of severe intellectual disability. Active epilepsy was associated with language disorder (p = 0.030). CONCLUSIONS: This is the largest reported series documenting detailed developmental profiles of children with SWS, including ID and ASD. PWS(+) shows high rates of ID and language disorder. PWS(-) SWS has a more favourable outcome. Cognitive outcome is contingent on number of affected lobes and bilateral involvement. Epilepsy exerts an additional deleterious effect on language and cognition. A high percentage of children have a history of status epilepticus, with evidence that this impacts language and cognitive outcomes. Acutely acquired neurological deficits did not penalise either. Regular structured clinical and developmental assessment permit greater identification of neurological and neurodevelopmental impairments in SWS, and appropriate support.

The anatomic distribution of isolated and syndrome-associated port-wine stain.

BACKGROUND/OBJECTIVES: To determine the role of sex in port-wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome-associated and non-syndrome-associated PWS using modern criteria. METHODS: A retrospective review of PWS patients aged 18 years and younger from 1995 to 2018 seen in the Department of Dermatology at an academic tertiary referral center. Cases were reviewed for sex, anatomic location, and presence of associated syndrome. 4,527 records were reviewed on the basis of ICD billing codes for congenital vascular malformations, with 516 meeting inclusion criteria. RESULTS: 516 patients were included in the analysis: 234 (45.4%) men and 282 (54.6%) women. A female preponderance of Sturge-Weber syndrome (18 of 23, 78%, P = .03) and a trend toward more female-isolated PWS (149 of 269, 55%, P = .72) were found. No lateral predominance observed for isolated PWS was found: 112(41.6%) limited left-side lesions and 113(42%) limited right-side lesions (P = .41). A trend toward Klippel-Trenaunay syndrome (KTS)-associated PWS occurring more commonly isolated to the left side (76 (45.5%) vs 59 (35.12%) P = .29) was found. Nine percent of SWS patients had a PWS on the body. Five percent of KTS patients had a facial PWS. The lower limb was the most common location overall of body PWS with 33.8% of isolated PWS and 81.5% of KTS patients having a lower limb lesion. CONCLUSIONS: Female children were more likely to be diagnosed with SWS, and a trend toward more isolated PWS in women was found. No lateral predominance of isolated PWS was found, but KTS-associated PWS was more common on the left. A considerable proportion of lesions do not appear in anatomic locations traditionally considered typical in the setting of associated syndromes, which underscores the importance of conducting a complete physical examination and adhering to diagnostic criteria for those syndromes.

Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber syndrome.

BACKGROUND: Children with forehead port-wine stains (PWSs) are at risk of Sturge-Weber syndrome (SWS). However, most will not develop neurologic manifestations. OBJECTIVE: To identify children at greatest risk of SWS. METHOD: In this retrospective cohort study of children with a forehead PWS, PWSs were classified as "large segmental" (half or more of a contiguous area of the hemiforehead or median pattern) or "trace/small segmental" (less than half of the hemiforehead). The outcome measure was a diagnosis of SWS. RESULTS: Ninety-six children had a forehead PWS. Fifty-one had a large segmental PWS, and 45 had a trace/small segmental PWS. All 21 children with SWS had large segmental forehead PWSs. Large segmental forehead PWSs had a higher specificity (0.71 vs 0.27, P < .0001) and a higher positive predictive value (0.41 vs 0.22, P < .0001) for SWS than any forehead involvement by a PWS. LIMITATIONS: Retrospective study at a referral center. CONCLUSION: Children with large segmental forehead PWSs are at highest risk of SWS.

Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States.

Background: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota.Materials and methods: The Rochester Epidemiology Project database was used to identify SWS cases from January 1, 2000-December 31, 2017. Incidence of SWS was calculated using the Olmsted County census population. A literature review of studies investigating SWS-associated ocular involvement was also performed.Results: There were 13 patients with SWS in Olmsted County classified as type 1 (31%) or type 2 (69%). Age and sex-adjusted incidence of SWS was 0.19/100,000/year. Race was predominantly Caucasian (85%), with sex female (69%) or male (31%). All patients had PWS, mostly with unilateral distribution in the V1 and/or V2 region (85%). Two cases (15%) had associated Klippel-Trenaunay syndrome. The most common ocular features included: dilated episcleral vessels (46%), glaucoma (46%), retinal detachment (23%), DCH (7.7%), strabismus (31%), and refractive error (38%). PWS in the V1 distribution was associated with all cases of glaucoma, DCH, and neurological involvement. Severe visual impairment (>0.6 LogMAR, Snellen equivalent ≤20/100) was found in (23%) at final follow-up, and one patient (8%) required enucleation for uncontrolled glaucoma.Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes.

Síndrome Sturge-Weber. Revisión de la literatura a propósito de un caso / Sturge-Weber syndrome. Literature review about a case / Síndrome de Sturge-Weber. Revisão de literatura sobre um caso

RESUMEN Introducción: Entre las hamartoblastosis se reconoce el síndrome de Sturge-Weber (SSW), cuyo diagnóstico es inusual y complejo su tratamiento. Objetivo: Socializar la experiencia en la atención a un paciente pediátrico con síndrome de Sturge-Weber en el Hospital Pediátrico Docente "General Pedro Agustín Pérez" de Guantánamo. Método: Se presentó un paciente preescolar, sin antecedentes familiares de interés. Al mes de nacido fue operado de glaucoma congénito. Durante el primer año de vida presentó retardo del desarrollo psicomotor y movimientos involuntarios considerados convulsiones tónico-clónicas. Se revisó la literatura para transmitir a la comunidad médica, de modo particular, a estudiantes de medicina y médicos generales, información para lograr un diagnóstico y un seguimiento adecuado de esta afección. Resultados: Según las manifestaciones clínicas, examen físico mediante el método clínico y los resultados de los exámenes complementarios, se planteó el diagnóstico de síndrome neurocutáneo, de modo particular un SSW. Se aplicó tratamiento con diazepam y al persistir la crisis, fenitoína. La primera clasificación de los síndromes neurocutáneos la realizó Jan Van der Hoeve, que acuñó el término facomatosis. Es un trastorno neurológico congénito, no hereditario aunque hay descrito casos familiares, poco común pero frecuente respecto a otros síndromes neurocutáneos. Se estima una incidencia de 5 x 100,000 nacidos vivos. Afecta a todos los grupos étnicos y ambos sexos. Conclusiones: No siempre hay relación entre la gravedad de las manifestaciones cutáneas, neurológicas y oculares del SSW con las alteraciones cerebrales. Es importante el examen físico para establecer el diagnóstico oportuno y evitar futuras secuelas y complicaciones.

ABSTRACT Introduction: Sturge-Weber syndrome (SSW) is recognized among hamartoblastosis, whose diagnosis is unusual and complex treatment. Objective: To socialize the experience in the care of a pediatric patient with Sturge-Weber syndrome at the "General Pedro Agustín Pérez" Pediatric Teaching Hospital in Guantanamo. Method: A preschool patient was presented, with no family history of interest. One month after birth, he underwent congenital glaucoma surgery. During the first year of life he presented retardation of psychomotor development and involuntary movements considered tonic-clonic seizures. Literature was reviewed to transmit to the medical community, in particular, to medical students and general practitioners, information to achieve a diagnosis and adequate follow-up of this condition. Results: According to the clinical manifestations, physical examination by means of the clinical method and the results of the complementary examinations, the diagnosis of neurocutaneous syndrome was proposed, in particular a SSW. Treatment with diazepam was applied and when the crisis persisted, phenytoin. The first classification of neurocutaneous syndromes was carried out by Jan Van der Hoeve, who coined the term phacomatosis. It is a congenital neurological disorder, not inherited although there have been family cases described, uncommon but frequent compared to other neurocutaneous syndromes. An incidence of 5 x 100,000 live births is estimated. It affects all ethnic groups and both sexes. Conclusions: There is not always a relationship between the severity of cutaneous, neurological and ocular manifestations of SSW with brain disorders. The physical examination is important to establish the timely diagnosis and avoid future sequelae and complications.

RESUMO Introdução: A síndrome de Sturge-Weber (SSW) é reconhecida entre as hamartoblastose, cujo diagnóstico é tratamento incomum e complexo. Objetivo: Socializar a experiência no atendimento de um paciente pediátrico com síndrome de Sturge-Weber no Hospital Pediátrico "General Pedro Agustín Pérez" em Guantánamo. Método: Foi apresentado um paciente pré-escolar, sem histórico familiar de interesse. Um mês após o nascimento, ele foi submetido a uma cirurgia de glaucoma congênito. Durante o primeiro ano de vida, apresentou retardo no desenvolvimento psicomotor e movimentos involuntários considerados convulsões tônico-clônicas. A literatura foi revisada para transmitir à comunidade médica, em particular aos estudantes de medicina e clínicos gerais, informações para obter um diagnóstico e acompanhamento adequado dessa condição. Resultados: De acordo com as manifestações clínicas, o exame físico por meio do método clínico e os resultados dos exames complementares, foi proposto o diagnóstico de síndrome neurocutânea, em particular um SSW. O tratamento com diazepam foi aplicado e, quando a crise persistiu, fenitoína. A primeira classificação das síndromes neurocutâneas foi realizada por Jan Van der Hoeve, que cunhou o termo facomatose. É um distúrbio neurológico congênito, não herdado, embora haja casos familiares descritos, incomum, mas frequente em comparação com outras síndromes neurocutâneas. É estimada uma incidência de 5 x 100.000 nascidos vivos. Afeta todos os grupos étnicos e ambos os sexos. Conclusões: Nem sempre existe relação entre a gravidade das manifestações cutâneas, neurológicas e oculares da SSW com distúrbios cerebrais. O exame físico é importante para estabelecer o diagnóstico oportuno e evitar futuras sequelas e complicações.

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.

OBJECTIVE: To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need. STUDY DESIGN: An online patient questionnaire was completed by 628 patients with clinically diagnosed SWS and/or a port-wine birthmark over a 19-year period. Statistical analysis focused on seizures as a primary outcome measure, as well as associated neurologic, ophthalmologic, and dermatologic attributes to understand some of the natural history of the disorder. RESULTS: The majority (92%) of patients had a port-wine birthmark, and 60% of the patients had neurologic symptoms, including seizures and stroke-like episodes. Glaucoma was present in 48% of the patients. Other common symptoms included behavioral (46%) and hearing (or vestibular) disorders (24%). Delayed diagnosis of SWS beyond 1 year after presentation of initial symptoms occurred in 16% of the patients, with 68% having clear preexisting comorbidities, especially headaches. Birthmarks on the forehead and scalp were associated with seizures (P < .001), whereas bilaterality of birthmarks was not. Only 49% of patients being treated for epilepsy were free of seizures. CONCLUSIONS: Seizures and glaucoma were the primary drivers for a diagnosis of SWS in patients with delayed diagnosis, and hearing (or vestibular) and behavioral problems were also prevalent. The diagnosis of SWS was delayed when the predominant symptom was headache. Seizure control was quite poor in many patients with SWS. Our findings highlight an important need for detailed, longitudinal data to improve our understanding of SWS and develop better treatment strategies for patients with this disorder.

Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report.

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS. CASE PRESENTATION: A forty-one-year-old Chinese female who had left side port-wine stain, ipsilateral glaucoma, and hypothyroidism was included in the present study. The neurocutaneous and endocrine symptoms were consistent with the SWS diagnostic criteria. Meanwhile, the patient had progressive weakness on her both arms and legs, dramatically elevated creatine kinase (CK) and myoglobin levels, and elevated antinuclear and anti-Ro52 antibodies. Intravenous methylprednisolone (MP) (80 mg/d), methotrexate, and intravenous cyclophosphamide were administrated and the weakness of the patient was gradually relieved with normal serum CK level. CONCLUSIONS: We reported the first case of SWS comorbid with inflammatory myopathy. The underlying mechanism for SWS and idiopathic inflammatory myopathy is still not clear, and further researches need to be conducted to deeply explore the mentioned mechanism.

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. METHODS: The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites. RESULTS: Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures. CONCLUSION: The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms.

BACKGROUND/AIMS: Seizures, strokelike episodes, and headaches are common complications in patients with Sturge-Weber syndrome. Based on our experience, we hypothesized that patients with Sturge-Weber syndrome have frequent urgent neuroimaging studies when presenting acutely to the emergency department. In this study, we aimed to determine the incidence of acute imaging studies in this patient population and to evaluate the prevalence of findings such as acute intracranial hemorrhagic or ischemic strokes. METHODS: To determine the frequency and yield of brain imaging, we conducted a retrospective chart analysis in patients with Sturge-Weber syndrome who presented to Boston Children's Hospital with acute neurologic symptoms between 1996 and 2016. RESULTS: We reviewed 136 encounters of patients with Sturge-Weber syndrome. In 73 of 136 encounters (53.7%), patients underwent a total of 89 imaging studies, consisting of 47 head computed tomographies (CTs) and 42 brain magnetic resonance images (MRIs). Twenty-two percent of patients imaged underwent both CT and MRI scanning of the brain. Patients with strokelike episodes or headaches were more likely to be imaged compared to patients presenting with seizures (89.7% and 100% vs 34.4%, respectively). None of the neuroimaging studies showed acute hemorrhagic or ischemic strokes. CONCLUSIONS: Acute neurologic manifestations of Sturge-Weber syndrome frequently lead to urgent neuroimaging. In our cohort, there was no imaging evidence of acute hemorrhagic or ischemic strokes. In addition, emergent imaging in patients presenting with breakthrough seizures did not result in meaningful changes in management.

Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains.

BACKGROUND: There is a lack of consensus regarding how best to screen children with facial port-wine stains for Sturge-Weber syndrome. Many favor brain magnetic resonance imaging, and adjunctive electroencephalography is increasingly used. However, the sensitivity, specificity, and negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition is unclear. METHODS: A retrospective review of children with high-risk port-wine stains presenting consecutively to the outpatient laser clinic of a tertiary pediatric hospital between December 2015 and November 2016 was undertaken. Primary outcome measures were yield, accuracy, age of and protocols for screening magnetic resonance imaging and electroencephalography, type of and age at presenting seizure, and percentage referred to neurology. RESULTS: Of 126 patients with facial port-wine stains, 25.4% (32/126) were at high risk of Sturge-Weber syndrome (hemifacial, median, and forehead PWS phenotypes); 43.7% of these (14/32) underwent screening magnetic resonance imaging. Sturge-Weber syndrome was detected in 7.1% (1/14). Magnetic resonance imaging had false-negative results in 23.1% (3/13) of those screened. Screening magnetic resonance imaging had sensitivity of 25%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 76.9% for the detection of Sturge-Weber syndrome (hemifacial, median and forehead PWS phenotypes). Only one-third of those with false-negative magnetic resonance imaging were referred to neurology. Mean age of first seizure in those with false-negative screening magnetic resonance imaging was 28 months, vs 14 months in those not screened. Abnormal electroencephalographic signs were detected in the two infants who underwent presymptomatic electroencephalography. CONCLUSIONS: Findings from this small cohort of individuals with port-wine stains that put them at high risk of Sturge-Weber syndrome suggest that children with positive screening magnetic resonance imaging will almost certainly develop Sturge-Weber syndrome but that negative screening magnetic resonance imaging cannot exclude Sturge-Weber syndrome (in up to 23.1% of cases). False-negative magnetic resonance imaging may delay seizure recognition. Seizure education, monitoring, and consideration of adjunctive electroencephalography are important irrespective of magnetic resonance imaging findings.

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

Introducción: El síndrome de Sturge-Weber es un trastorno vascular congénito caracterizado por una malformación facial capilar (mancha en vino de Oporto) asociada a malformaciones venosas y capilares en el cerebro y en el ojo. También pueden observarse alteraciones en otras localizaciones y síntomas neurológicos. Objetivos: Describir las características clínicas y epidemiológicas, así como los diferentes tratamientos realizados en una cohorte de pacientes diagnosticados de síndrome de Sturge-Weber en un hospital terciario. Material y métodos: Estudio comparativo, retrospectivo y transversal, mediante la revisión de historias clínicas de pacientes diagnosticados de síndrome de Sturge-Weber entre los años 1998 y 2013. Resultados: Se incluyeron 13 pacientes (54% varones, 46% mujeres) diagnosticados de síndrome de Sturge-Weber. La edad media al diagnóstico fue de 15 meses. Presencia de angiomatosis leptomeníngea en el 100% de los casos: hemisferio derecho (46%), hemisferio izquierdo (38%), afectación bilateral (15%). Presencia de angioma facial (61%): derecho (23%), izquierdo (38%) y bilateral (7%). Otras alteraciones cutáneas: 23% de los casos (2 de ellos la afectación en el hemicuerpo del lado en el que se encontraba también la angiomatosis facial y leptomeníngea y en el otro caso la afectación cutánea fue en forma de cutis marmorata generalizada). Encontramos afectación ocular en el 77% de los pacientes, siendo las más frecuentes: glaucoma (46%), estrabismo (23%) y angiomatosis coroidea (23%). Presencia de epilepsia 100% de los casos, siendo las crisis parciales (simples o complejas) las más frecuentes (62%). El control de las crisis epilépticas fue muy variable, ya que el 31% han necesitado probar más de 3 fármacos, 15% 3 fármacos, 31% 2 fármacos y 23% tuvieron buen control con monoterapia. Uno de los pacientes requirió cirugía de la epilepsia (hemisferectomía izquierda), quedando libre de crisis hasta la fecha. En electroencefalogramas lo más frecuente fue: puntas, puntas ondas o polipuntas-ondas en los lóbulos afectados por angiomatosis leptomeníngea (46%). Otros síntomas neurológicos: hemiparesia (39%), cefaleas recurrentes (39%), episodios stroke-like (23%), retraso psicomotor (46%), retraso mental (46%). Presencia calcificaciones leptomeníngeas en la resonancia magnética (85%). Aumento de las calcificaciones en el 70%. Pacientes tratados con ácido acetilsalicílico: 54%. Conclusiones: Son múltiples las manifestaciones clínicas del síndrome de Sturge-Weber, siendo de vital importancia conocerlas todas para poder realizar un correcto diagnóstico, seguimiento y tratamiento de las mismas, mejorando así la calidad de vida de estos pacientes (AU)

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 (AU)

Angiomatosis encefalotrigeminal o síndrome de Sturge-Weber. A propósito de un caso / Encephalotrigeminal angiomatosis or Sturge-Weber syndrome. A propos of a case

El síndrome de Sturge-Weber consiste, en su forma completa, en la asociación de anomalías cerebrales, cutáneas y oculares. Desde el punto de vista clínico, se caracteriza por una mancha color vino en la cara, epilepsia, retraso mental, otras manifestaciones neurológicas deficitarias y glaucoma. Se presentó el caso de un paciente de 9 años de edad, masculino, piel negra, producto de parto eutócico, con peso de 4 200 g y antecedentes patológicos perinatales de cianosis, constatándose desde el nacimiento varios hemangiomas faciales. Al examen físico se confirma en cara y cráneo, una frente huidiza con presencia del hemangioma facial o hemangioma coroideo, glaucoma unilateral izquierdo, micrognatia. Se precisó mala oclusión dentaria, y en las extremidades superiores una clinodactilia del quinto dedo. Además, tiene el tronco asimétrico, retraso mental severo y aparecen cuadros convulsivos tónico-clónicos que repiten frecuentemente. Teniendo en cuenta todos estos elementos se comienza a sospechar el posible diagnóstico de un síndrome de Sturge-Weber (AU).

The Sturge-Weber syndrome is, in its complete form, the association of ocular, cutaneous and cerebral anomalies. From the clinical point of view, it is characterized by a wine-color spot on the face, epilepsy, mental retardation, other neurological deficit manifestations and glaucoma. We presented the case of a male, black patient, aged 9 years, who was born by eutocic delivery, with 4 200 g weight, and perinatal symptoms of cyanosis, finding several facial hemangioma from the moment of birth. At the physical examination, it was confirmed on the face and crania, evasive forehead with facial hemangioma or choroidal hemangioma, left unilateral glaucoma, micrognathia. Dental malocclusion was stated and clinodactyly of the fifth finger. Besides that, he has an asymmetric trunk, severe mental retardation and tonic-clonic convulsive episodes frequently repeated. Taking into account all these elements we began to suspect the possible diagnosis of a Sturge-Weber syndrome (AU).

Angiomatosis encefalotrigeminal o síndrome de Sturge-Weber. A propósito de un caso / Encephalotrigeminal angiomatosis or Sturge-Weber syndrome. A propos of a case

El síndrome de Sturge-Weber consiste, en su forma completa, en la asociación de anomalías cerebrales, cutáneas y oculares. Desde el punto de vista clínico, se caracteriza por una mancha color vino en la cara, epilepsia, retraso mental, otras manifestaciones neurológicas deficitarias y glaucoma. Se presentó el caso de un paciente de 9 años de edad, masculino, piel negra, producto de parto eutócico, con peso de 4 200 g y antecedentes patológicos perinatales de cianosis, constatándose desde el nacimiento varios hemangiomas faciales. Al examen físico se confirma en cara y cráneo, una frente huidiza con presencia del hemangioma facial o hemangioma coroideo, glaucoma unilateral izquierdo, micrognatia. Se precisó mala oclusión dentaria, y en las extremidades superiores una clinodactilia del quinto dedo. Además, tiene el tronco asimétrico, retraso mental severo y aparecen cuadros convulsivos tónico-clónicos que repiten frecuentemente. Teniendo en cuenta todos estos elementos se comienza a sospechar el posible diagnóstico de un síndrome de Sturge-Weber (AU).

The Sturge-Weber syndrome is, in its complete form, the association of ocular, cutaneous and cerebral anomalies. From the clinical point of view, it is characterized by a wine-color spot on the face, epilepsy, mental retardation, other neurological deficit manifestations and glaucoma. We presented the case of a male, black patient, aged 9 years, who was born by eutocic delivery, with 4 200 g weight, and perinatal symptoms of cyanosis, finding several facial hemangioma from the moment of birth. At the physical examination, it was confirmed on the face and crania, evasive forehead with facial hemangioma or choroidal hemangioma, left unilateral glaucoma, micrognathia. Dental malocclusion was stated and clinodactyly of the fifth finger. Besides that, he has an asymmetric trunk, severe mental retardation and tonic-clonic convulsive episodes frequently repeated. Taking into account all these elements we began to suspect the possible diagnosis of a Sturge-Weber syndrome (AU).

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.

Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome.

BACKGROUND: Sturge-Weber syndrome is characterized by a facial port-wine stain associated with either or both a retinal angioma and a cerebral pial angioma. Because a pial angioma may not be evident on the initial imaging studies, individuals at risk for epilepsy are often not identified before their first seizure. The aim of this study is to identify predictive factors predisposing Sturge-Weber patients to epilepsy. METHODS: The medical archives and photography database of our institution were reviewed to identify Sturge-Weber Syndrome patients followed up between 1990 and 2015. Patients without epilepsy were compared with patients with epilepsy based on the location of the port-wine stain, its extent and cerebral imaging. RESULTS: Twenty-four patients were included in the study. Thirteen did not develop epilepsy. Patients with bilateral port-wine stain were at higher risk of epilepsy (P = 0.03). Unilateral port-wine stain did not increase the risk of epilepsy (P = 0.29) regardless of its extent. The presence of developmental venous anomalies on brain imaging was also associated with a higher risk of epilepsy (P = 0.03). CONCLUSIONS: Bilateral facial port-wine stain and cerebral developmental venous anomalies increase the risk of epilepsy in Sturge-Weber syndrome patients. Because they can be detected at birth, they might guide preventive management and follow-up.

Síndrome de Sturge-Weber sin nevus facial: angiomatosis leptomeníngea frontal con evolución favorable / Sturge-Weber syndrome without facial nevus: frontal leptomeningeal angiomatosis with favourable development

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