ANALYSIS OF THE CLINICAL MANIFESTATIONS CAUSED BY STURGE WEBER SYNDROME

Abstract

Introduction: Sturge-Weber syndrome is a congenital disease with activating somatic alteration of the GNAQ gene, causing a failure in the regression of the primitive cephalic venous plexus so it is specifically associated with Port Wine stain with leptomeningeal angioma, it is associated with venous and capillary malformations in the brain and eye; causing glaucoma and leptomeningeal angioma.

Objective: detail and analyze the clinical manifestations related to Sturge Weber syndrome.

Methodology: the work presented is a descriptive analysis based on research studies by different authors and on a clinical case found in the province of Cañar, that is to say that its incidence is 1 in 100,000 inhabitants. A total of 20 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 14 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, SciELO, Google Scholar, Medigraphic and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: Sturge-Weber syndrome, Port Wine Stain, Leptomeningeal angiomatosis.

Results: based on some authors, it is argued that the Sturge-Weber syndrome presents different forms, even presenting incompletely in which there are two manifestations, being angiomatosis and encephalo-facial, but according to the Roach scale there are three types: type 1 with facial port wine stain and leptomeningeal angiomatosis, with or without associated glaucoma that would correspond to classic Sturge Weber Syndrome; type 2, which is the most frequent, with facial MVO without leptomeningeal involvement, with or without the presence of glaucoma; and type 3, which is the less frequent form, with the presence only of leptomeningeal angiomatosis.

It is currently known that the evolution of the clinical manifestations should be treated respectively, since the most serious complication of this disease are partial or complex seizures, taking into account that the occipital lobe is affected in most cases, but also the occipito-parietal lobe or even the frontal lobe in the frontonasal area may be affected. Sturge-Weber syndrome is a congenital disease affecting the brain, spine and nerves (neuro) and skin (cutaneous), with an incidence of about 1 in 20,000 to 50,000 people, but not inherited.

Medical treatment includes anticonvulsants, symptomatic and prophylactic, glaucoma treatment to reduce intraocular pressure, and laser therapy to reduce facial nevus. It should be clarified that the medical treatment will be based on how much the area is affected, especially in the neurological symptoms due to the development of the leptomeningeal malformation.

Conclusions: Sturge-Weber syndrome is a highly complex disorder of very low incidence in our country, because it is caused by a mutation of one of the genes at birth, affecting mainly the blood vessels and causing severe neurological disorders due to the lack of flow to the affected areas, thus compromising the life of the patients who suffer from it, who are mainly newborns and children, This makes its approach difficult, due to the mutation and the affection that they entail, which hinders therapeutic decisions, so it is extremely important to make a correct diagnosis based on a clinical, genetic and symptomatological analysis taking into account the condition and age of the patient, so that in this way the treatment can provide adequate survival to the patient.