Síndrome de Sturger Weber. Presentación clínica y manejo terapéutico / Sturger Weber syndrome. Clinical presentation and therapeutic management

RESUMEN La angiomatosis encefalotrigeminal es el más frecuente de los síndromes neurocutáneos con predominio de anomalías vasculares. Es un proceso congénito infrecuente, pero no excepcional, que afecta a uno y otro sexo por igual. Consiste, en su forma completa, en la asociación de anomalías cerebrales, cutáneas y oculares. Se presenta el caso de una paciente de un año de edad, de color de piel blanca, producto de parto eutócico, con peso de 3660 g. Al examen físico se confirmó una hipotonía generalizada, retardo en el desarrollo psicomotor; con hemangioma facial extenso bilateral, hemiparesia derecha, cuadros convulsivos tónico-clónicos. Teniendo en cuenta todos estos elementos y los resultados de una tomografía axial computarizada y un electroencefalograma, se realizó el diagnóstico de un síndrome de Sturge-Weber. La estimulación temprana del lenguaje, la parte motora y cognitiva, el entrenamiento en destrezas motoras finas es el tratamiento fisioterapéutico que debe iniciar en etapa temprana. El presente trabajo tiene como objetivo señalar lo oportuno del tratamiento para un mejor pronóstico y calidad de vida.

ABSTRACT Encephalotrigeminal angiomatosis is the most common of the neurocutaneous syndromes with a predominance of vascular abnormalities. It is a rare, but not exceptional, congenital process that affects both sexes equally. It consists, in its complete form, in the association of brain, skin and eye abnormalities. The case of a 1-year-old female patient, white skin, eutocic birth result, weighing 3660 g is presented. Physical examination confirmed patient with generalized hypotonia, delay in psychomotor development; with extensive bilateral facial hemangioma, right hemiparesis, tonic-clonic convulsive manifestation. Taking into account all these elements, the diagnosis of a Sturge-Weber syndrome is made. The early stimulation of language, the motor and cognitive part, the training in fine motor skills is the physiotherapeutic treatment that should start in an early stage. The objective of this paper is to point out the timeliness of treatment for a better prognosis and quality of life.

Serous Retinal Detachment Resolution following Trabeculectomy in a Patient with Sturge-Weber Syndrome.

PURPOSE: To report a case of Sturge-Weber syndrome (SWS) complicated with uncontrolled glaucoma and serous retinal detachment (SRD) in the left eye that evolved with complete resolution after trabeculectomy. METHODS: We report the case of a 10-year-old boy with SWS complicated with uncontrolled glaucoma and SRD in the left eye. In primary evaluation, he presented with a left-sided nevus flammeus affecting upper eyelid and best corrected visual acuity of 20/50 on the affected eye. Fundus examination revealed glaucomatous optic nerve neuropathy and diffuse choroidal hemangioma with overlying SRD, which were confirmed with spectral domain optical coherence tomography. Right eye was unremarkable. RESULTS: The patient underwent trabeculectomy with mitomycin-C on the affected eye. Two weeks later, he presented with normalization of the intraocular pressure and substantial resolution of subretinal fluid (SRF), which improved to complete resolution of the SRD at 2 months of follow-up. In addition, there was an improvement of visual acuity from 20/50 to 20/40. CONCLUSION: This is the first report to describe a case of SWS associated with SRD and resolution of SRF after trabeculectomy.

Vicente Dimitri (1885-1955).

The pioneer neuropathologist Vicente Dimitri (1885-1955) was professor and chairman of neurology at the Medical School of the University of Buenos Aires. He founded the Revista Neurológica de Buenos Aires, the first Spanish-language journal of neurology (currently, Neurología Argentina), and is eponymously remembered in 'Sturge-Weber-Dimitri syndrome' or encephalotrigeminal angiomatosis.

Síndrome de Sturge-Weber: revisión de la literatura / Sturge-Weber syndrome: literature review

El síndrome de Sturge-Weber es un trastorno neurocutáneo, congénito, esporádico e infrecuente que afecta aproximadamente a 1 de cada 20 000 a 50 0000 nacidos vivos y que se relaciona con una mutación genética activadora somática en GNAQ. Clínicamente se caracteriza por la presencia de una mácula en vino de Oporto en la piel de territorio trigeminal, angiomatosis leptomeníngea y glaucoma. Puede asociarse a diferentes manifestaciones clínicas, de las cuales las crisis epilépticas representan la manifestación neurológica más frecuente que se asocia a un deterioro cognitivo importante en estos pacientes. En el presente artículo se realiza una revisión descriptiva de la literatura sobre los aspectos etiológicos, fisiopatológicos, de clasificación, clínicos, diagnósticos y del tratamiento del síndrome de Sturge-Weber.

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous disorder affecting approximately 1 in 20,000 to 50,000 live births that is associated with a somatic activating gene mutation in GNAQ. Clinically it is characterized by the presence of a port wine stain on the skin of trigeminal territory, leptomeningeal angiomatosis and glaucoma. It can be associated with different clinical manifestations, of which the epileptic seizures represents the most frequent neurological manifestation associated with significant cognitive impairment in these patients. This article makes a descriptive review of the literature on the etiological, pathophysiological, classification, clinical, diagnostic and treatment aspects of Sturge-Weber syndrome.

Dental care challenges in Sturge-Weber syndrome: a case report / Desafios do tratamento odontológico na síndrome de Sturge-Weber: relato de caso

Introduction: Sturge-Weber syndrome (SWS) is a rare condition characterized by facial capillary malformation, involves ocular, neurological, and cutaneous alterations. Associated with unilateral characteristic port-wine stains, gingival growth and purple-red coloration. Aim: his case aims to report dental treatment challenges in patients with SWS and importance of oral health maintenance in these individuals. Case report: a 20-year-old woman with an established diagnosis of SWS, presented bad breath and spontaneous gingival bleeding, with gingival growth and reddish-purple spots spread to labial and alveolar mucosa, tongue, and palate. Conditioning of the patient's oral environment by supra and subgingival scraping, dental unit extraction was performed. A conservative treatment plan was adopted for management adequacy of oral environment owing to possible complications inherent to the condition. Conclusion: it is important to emphasize the importance of dental surgeon's performance in relation to a multidisciplinary health team, as well as cooperation of patient, to obtain better results from the proposed therapy.

Introdução: a síndrome de Sturge-Weber (SSW) é uma condição rara caracterizada por malformação capilar facial, envolve alterações oculares, neurológicas e cutâneas. Associada a manchas unilaterais características do vinho do porto, crescimento gengival e coloração vermelho-púrpura. Objetivo: este caso tem como objetivo relatar desafios do tratamento odontológico em pacientes com SSW e a importância da manutenção da saúde bucal nesses indivíduos. Relato de caso: paciente do sexo feminino, 20 anos, com diagnóstico estabelecido de SSW, apresentou mau hálito e sangramento gengival espontâneo, com crescimento gengival e manchas roxas avermelhadas espalhadas pela mucosa labial e alveolar, língua e palato. Condicionamento do ambiente oral do paciente por raspagem supra e subgengival, foi realizada extração da unidade dental. Foi adotado um plano de tratamento conservador para adequação do manejo do ambiente bucal devido a possíveis complicações inerentes à condição. Conclusão: é importante enfatizar a importância do desempenho do cirurgião-dentista em relação a uma equipe multidisciplinar de saúde, bem como a cooperação do paciente, para obter melhores resultados com a terapia proposta.

Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report.

Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30-60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological finding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clinic complaining of right-sided decreased visual acuity and pain after a fall. Phenotypically, the patient had a PWS around V1 territory and involvement of both eyelids. Previous relevant ocular history included retinal detachment without macular involvement, ocular hypertension, and phacodonesis. The slit-lamp examination showed anterior lens luxation and elevated intraocular pressure (IOP) of 40 mm Hg by tonometry. Prior to the surgical approach, the patient received hypotensive treatment for elevated IOP. After intracapsular lens extraction, measurements were consistent with spherophakia. Postoperatively, the patient underwent optical coherence tomography (OCT). There was cystic macular edema (CME) by OCT and a detached posterior hyaloid membrane. The patient fully recovered with topical treatment of bromfenac for CME. To the best of our knowledge, this is the first report of concomitant anterior lens luxation and spherophakia (novel association) in a SWS patient. Our findings supplement the differential ocular diagnoses in SWS and should be considered in the routine ocular exam, specifically of the anterior segment. CME occurred similar to otherwise healthy eyes. However, in this case, topical anti-inflammatory medications had a good response and were well-tolerated.

Síndrome de Sturge Weber, triada clásica desde un enfoque genético, molecular y fisiopatológico / Sturge Weber Syndrome, Classic Triad From A Genetic, Molecular And Physiological Approach

El síndrome de Sturge Weber (SSW) se caracteriza por el compromiso clásico de malformaciones vasculares neuro oculocutáneas esporádicas, cuya fisiopatología hasta la fecha no se ha podido dilucidar del todo. El descubrimiento de un perfil molecular tanto arterial como venoso en el endotelio presente en las malformaciones vasculares aunado a zonas de atresia vascular distales a las zonas ectasicas, han llevado a cuestionar las teorías embriológicas planteadas desde hace décadas, para explorar las características moleculares y genéticas en el tejido afectado. A la actualidad se ha reportado una elevada prevalencia de la mutación somática en el gen GNAQ en los tejidos afectados de los pacientes con SSW el cual codifica una subunidad alfa de una proteína Gq, cuya cascada de señalización estimula la proliferación celular, pudiendo esta ser responsable del crecimiento sostenido de las malformaciones de las tres regiones mencionadas. El presente estudio se propone a explicar las manifestaciones clínicas clásicas del SSW desde un enfoque genético, molecular y fisiopatológico.

Sturge Weber syndrome (SSW) is characterized by the classic involvement of sporadic neuro-oculo-cutaneous vascular malformations, the pathophysiology of which to date has not been fully elucidated.The discovery of both an arterial and venous molecular profile in the endothelium present in vascular malformations, together with vascular atresia zones distal to the ectatic zones, have led to questioning the embryological theories put forward for decades, to explore the molecular and genetic characteristics in the affected tissue.Currently, a high prevalence of somatic mutation in the GNAQ gene has been reported in the affected tissues of patients with SSW, which encodes an alpha subunit of a Gq protein, whose signaling cascade stimulates cell proliferation, which may be responsible of the sustained growth of malformations in the three mentioned regions. The present study aims to explain the classic clinical manifestations of SSW from a genetic, molecular and pathophysiological perspective.

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.

Síndrome De Sturge-Weber: Reporte De Un Caso Y Revisión De La Literatura / Sturge-Weber Syndrome: A Case Report And Literature Review

Resumen El Síndrome de Sturge-Weber es un trastorno poco común del desarrollo neuroectodérmico, caracterizado por un angioma facial tipo nevus flammeus y una angiomatosis leptomeníngea, con frecuencia ipsilateral al nevus. Este síndrome predispone a calcificaciones, atrofia cerebral y convulsiones refractarias. Propósito: En este artículo se realiza una revisión de la literatura sobre el Síndrome de Sturge-Weber y se reporta el caso de un paciente de 18 meses de edad diagnosticado con esta patología que ingresa a urgencias por presentar cuadro febril de tres días y comienzo de convulsiones tónico clónicas localizadas en hemicuerpo derecho refractarias al tratamiento convencional; en esta revisión se resalta la importancia del diagnóstico y manejo oportuno al igual que un adecuado seguimiento. Desarrollo: se realizaron búsquedas en las bases de datos PubMed, Science Direct y Scielo, confirmando que aún se desconocen algunos aspectos de esta patología, sin embargo, con el descubrimiento de la mutación somática de GNAQ hay un amplio campo para próximas investigaciones. Hallazgos y conclusiones: Es importante en el ejercicio médico no pasar de alto las lesiones angiomatosas que posean una ubicación trigeminal en los recién nacidos, con el fin de establecer un diagnóstico oportuno e intentar conseguir un mejor desarrollo a futuro.

Abstract Sturge-Weber Syndrome is a rare developmental neuroectodermical disorder. It is characterized by a facial port-wine stain and a leptomeningeal angiomata, frequently localized ipsilateral to the facial port-wine stain. This syndrome predisposes either to brain atrophy, calcifications and refractory seizures. In this paper a Sturge-Weber Syndrome literature review was made and a 18 month aged child case with this diagnosis is reported. He was admitted to the emergency department of a local hospital with a history of three days of fever and tonic-clonic seizures localized on the right side and refractory to conventional treatment. This review highlights the importance of an early diagnosis and an appropriate follow up. To carry out this review a search in PubMed, Science Direct and Scielo databases was done, confirming that there are some issues about this disorder that are still unknown. However, with the GNAQ somatic mutation discovery, there is an open field for new researches. It is very important in medical practice not to understimate a facial port-wine stain over trigeminal territory in newborns in order to make an early diagnosis and try to achieve a better future neurodevelopment.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(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).

Bilateral Sturge-Weber syndrome and glaucoma controlled with ahmed valve implant

Sturge-Weber Syndrome is a rare neuro-oculocutaneous disorder. The authors describe the case of a 13 years old boy, presented with bilateral Sturge-Weber Syndrome and glaucoma. Surgical treatment with Ahmed valve implantation in both eyes was carried out achieving lower levels of intraocular pressure.

A síndrome de Sturge-Weber trata-se de uma doença neuro-óculocutânea rara. Os autores relatam o caso de um paciente do sexo masculino, de 13 anos de idade, que se apresentou com Síndrome de Sturge-Weber bilateral e glaucoma. Foi realizado o tratamento cirúrgico com implante de válvula de Ahmed em ambos os olhos e alcançado a redução da pressão intraocular bilateral.

Síndrome de Sturge-Weber: relato de caso / Sturge-Weber Syndrome: case report

Contexto: É descrita uma síndrome congênita rara e suas manifestações típicas visando seu diagnóstico precoce. Descrição do caso: Paciente do sexo feminino, com 15 anos de idade, com glaucoma congênito em acompanhamento pelo Serviço de Oftalmologia da Universidade Estadual Paulista (Unesp) foi encaminhada ao Serviço de Dermatologia com um ano de idade devido a manchas eritêmato-violáceas extensas distribuídas nos dois terços superiores da hemiface esquerda e em outras localidades do corpo desde o nascimento. A mãe relatava convulsões desde um ano e atraso do desenvolvimento neuropsicomotor. Nos antecedentes familiares, negava casos semelhantes. O diagnóstico da Síndrome de Sturge-Weber foi estabelecido pelo quadro clínico característico e pelos exames complementares que demonstraram, no sistema nervoso central, atrofia e calcificação corticais, além de alterações oftalmológicas como glaucoma e buftalmo. Discussão: A síndrome de Sturge-Weber ocorre em 1 a cada 20.000 a 50.000 nascidos vivos e é caracterizada por malformações vascu-lares manifestadas por manchas eritêmato-violáceas, mais conhecidas como manchas ?vinho do Porto?, localizadas no território do ramo oftálmico do nervo trigêmeo, com acometimento neurológico e possível acometimento ocular. O prognóstico depende das complicações neurológicas, as quais não guardam relação com a extensão das lesões cutâneas. Conclusões: Relata-se afecção rara, cujo diagnóstico precoce direciona o acompanhamento multidisciplinar.

Manifestaciones bucales del síndrome de Sturge-Weber: reseña bibliográfica y presentación de un caso / Oral manifestations of Sturge-Weber syndrome: a review of the literature and report of a case

El síndrome de Sturge-Weber es una rara alteración vascular con componentes neurocutáneos, en el que se presentan manifestaciones sistémicas y bucales. Entre sus características se incluyen: el nevo cutáneofacial, angioma venoso en las leptomeninges, calcificaciones intracraneales, hemangiomas intrabucales e hiperplasia gingival. El caso presentado se refiere a una paciente que acude a la consulta. En este trabajo se realizó una extensa revisión de la literatura en relación al síndrome de Sturge-Weber y se señalan las alteraciones intra y extraorales.(AU)

Manifestaciones bucales del síndrome de Sturge-Weber: reseña bibliográfica y presentación de un caso / Oral manifestations of Sturge-Weber syndrome: a review of the literature and report of a case

El síndrome de Sturge-Weber es una rara alteración vascular con componentes neurocutáneos, en el que se presentan manifestaciones sistémicas y bucales. Entre sus características se incluyen: el nevo cutáneofacial, angioma venoso en las leptomeninges, calcificaciones intracraneales, hemangiomas intrabucales e hiperplasia gingival. El caso presentado se refiere a una paciente que acude a la consulta. En este trabajo se realizó una extensa revisión de la literatura en relación al síndrome de Sturge-Weber y se señalan las alteraciones intra y extraorales.

Sturge-Weber syndrome: a case report

Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations related to the syndrome. Case report and conclusion: The patient reported that he had presented a cutaneous vascular nevus on the face during childhood as well as epileptic crisis episodes. However, he had no ophthalmic alterations. Sturge-Weber syndrome is a systemic condition commonly affecting oral cavity through vascular lesions, therefore, dentists' knowledge is extremely important to provide an adequate dental treatment without complications.

Síndrome de Sturge-Weber e suas repercussões oculares: revisão da literatura / Sturge-Weber syndrome and its ocular effects: a review

A síndrome de Sturge-Weber (SSW) é uma desordem neuro-oculocutânea, rara e congênita. Esta facomatose, também conhecida como angiomatose encéfalotrigeminal, é definida pela tríade clássica: hemangiomas cutâneo, meníngeo e ocular. Apesar de sua apresentação típica, formas incompletas não são incomuns. O glaucoma está frequentemente presente e seus mecanismos fisiopatológicos permanecem incertos. Talvez por isso, o manejo clínico e cirúrgico do glaucoma associado à síndrome de Sturge-Weber (GSSW) seja um desafio para a prática oftalmológica, muitas vezes com resultados desapontadores. Apresentamos uma revisão da literatura com ênfase no GSSW, sua patogênese e perspectivas terapêuticas.

The Sturge-Weber syndrome (SWS) is a rare congenital neuro-oculocutaneous disorder. This phacomatosis, also known as encephalotrigeminal angiomatosis, is defined by the classic triad: cutaneous, meningeal and ocular hemangiomas. Despite its typical presentation, incomplete forms are not uncommon. Glaucoma is often present and their pathophysiological mechanisms remain uncertain. Pherhaps this is why the clinical and surgical management of glaucoma associated with Sturge-Weber syndrome (GSSW) is a challenge for the ophthalmic practice, often with disappointing results. We present a literature review with emphasis on GSSW, its pathogenesis and therapeutic perspectives.

Síndrome de Sturge Weber: reporte de un caso y revisión de la literatura / Sturge-Weber syndrome: a case report and review of the literature

Introdución: El síndrome de Sturge-Weber (SSW) es una entidad neurocutánea congénita caracterizada por una malformación vascular facial (mancha en vino de Oporto) asociado a angiomatosis leptomeníngea. Su prevalencia es aproximadamente de uno por cada 50 000 nacidos vivos. Afecta por igual a ambos sexos. Las manifestaciones clínicas incluyen a las convulsiones, nevus vascular cutáneo unilateral en relación a la división oftálmica del nervio trigémino, glaucoma ipsilateral, hemiparesia contralateral, hemiatrofia, hemianopia y retraso psicomotor. La característica radiológica es la presencia de calcificaciones giriformes en los lóbulos occipital y parietal. Reporte de caso: Una paciente de 1 año 7 meses llegó a la emergencia presentando convulsiones generalizadas que cesaron con diazepan, y se inició tratamiento con ácido valproico. Mostraba una mancha congénita color vino de Oporto en la frente, además se evidenció un leve retraso psicomotor. La tomografia mostró una calcificación cortical en los lóbulos parietal y occipital izquierdos. En la resonancia magnética se evidenció un reforzamientoleptomeníngeo parietal izquierdo. Conclusiones: El SSW es una entidad rara y de curso progresivo, el diagnóstico no es difícil cuando las manifestaciones típicas están presentes. Una malformación cutánea facial y la presencia de retardo mental debería alertar a los médicos cuando se encuentran frente a niños con convulsiones focales o parciales complejas secundariamente generalizadas en el primer o segundo año de vida.

Introduction: Sturge- Weber syndrome (SWS) is a congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (Port-wine stain) in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected. Clinical manifestations include seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and psychomotor retardation. The radiographic hallmarks of SWS are gyriform calcifications usually involving the occipital and parietal lobes. Case report: A 1 year and 7 month-old girl carne to emergence department showing generalized seizures that resolved with diazepam and valproic acid was started. She had a facial Port-wine birthmark located on the forehead; a mild psychomotor retardation was evidenced. Head CT demonstrated a cortical calcification of the left parietal and occipital lobe. MRI showed a left parietal leptomeningeal enhancement. Conclusions: SWS is a rare and progressive entity, the diagnosis is not hard when typical manifestations are present. Mental retardation and facial cutaneous malfonnations should alert physician when they are in front of infants with focal or complex partial/secondarily generalized seizures in the first or second year of life.

Sturge Weber syndrome: a case report / Síndrome de Sturge Weber: um relato de caso

PURPOSE: The Sturge-Weber syndrome (SWS) is a rare congenital disorder that occurs sporadically and features lesions of both skin and nervous system. We report a case of 7 year-old girl with Sturge-Weber syndrome and discuss its clinicopathological features, differential diagnosis and also emphasize the importance of its diagnosis in the clinical oral practice. CASE DESCRIPTION: The classic pathognomonic manifestations include angioma of the leptomeninges extending to cerebral cortex with ipsilateral angiomatous lesions, unilateral facial nevus affecting a division of trigeminal nerve, hemiparesis, intracranial calcification, mental retardation and refractory epilepsy. The most apparent indication of SWS is a facial birthmark or "Port Wine Stain" present at birth and typically involving at least one upper eyelid and the forehead. Management of a patient with Sturge-Weber Syndrome may be challenging due to risk of hemorrhage. CONCLUSION: The dentists should focus on comprehensive therapy, starting with behavior management and stress on preventive measures.

OBJETIVO: A síndrome de Sturge-Weber (SWS) é uma rara doença congênita que ocorre esporadicamente e apresenta lesões de pele e do sistema nervoso. Este artigo é um relato de caso de uma menina de 7 anos com SWS para discutir suas características clinicopatológicas, diagnóstico diferencial e enfatizar a importância do seu diagnóstico na prática clínica odontológica. DESCRIÇÃO DO CASO: As manifestações clássicas patognomônicas incluem angioma das leptomeninges que se estendem para o córtex cerebral com lesões angiomatosas ipsilaterais, nevo facial unilateral, que afetam uma divisão do nervo trigêmeo, hemiparesia, calcificação intracraniana, retardo mental e epilepsia refratária. A indicação mais evidente de SWS é uma marca de nascença facial ou "mancha vinho do porto" presente no nascimento e tipicamente envolvendo pelo menos uma pálpebra superior e a testa. O controle clínico de um paciente com SWS pode ser desafiador devido ao risco de hemorragia. CONCLUSÃO: Os dentistas devem adotar uma abordagem terapêutica abrangente, começando com o controle de comportamento e de estresse com medidas preventivas.