ENFERMEDAD STURGE WEBER PDF

It is a rare condition typically recognized at birth with an estimated incidence of , It affects males and females equally. There is higher incidence of autism and growth hormone deficiency in patients with SWS. Seizures in SWS usually start as partial or focal seizures that can spread to a generalized seizure. Some children will have eye deviation eyes turn to one side , and tonic-clonic movements may occur typically on the side opposite of the port-wine stain.

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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.

You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis.

Please note that the table may not include all the possible conditions related to this disease. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand.

You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Sturge-Weber syndrome.

You can help advance rare disease research! Title Other Names:. Summary Summary. Symptoms Symptoms. These angiomas can lead to decreased blood flow to the brain, which in turn can cause strokes, seizures , headaches and muscle weakness. Most children develop seizures by age 2. Increased pressure in the eyes glaucoma may be diagnosed at birth, during childhood or adulthood. Some people with SWS have developmental and intellectual impairment. The symptoms and severity of SWS vary from person to person, and typically get worse over time.

Showing of 37 View All. Strawberry birthmark. Attention deficit. Attention deficit disorder. Attention deficit-hyperactivity disorder. Attention deficits. Increased reflexes. Mental deficiency.

Mental retardation. Mental retardation, nonspecific. Squint eyes. Abnormality of retina blood vessels. Abnormal deposits of calcium in the brain. Decrease in size of the outer layer of the brain due to loss of brain cells. Small dilated blood vessels near membrane covering front of eye and eyelids. Poor swallowing.

Swallowing difficulties. Swallowing difficulty. Gum enlargement. Abnormal hearing. Different colored eyes. Too much cerebrospinal fluid in the brain. Bone overgrowth. Cat eye.

Increased size of skull. Large head. Large head circumference. Speech disorder. Speech impairment. Speech impediment. Blood clot in artery of lung. Detached retina. Blood clot in vein. Enlarged eyeball. No previous family history. Do you have more information about symptoms of this disease? We want to hear from you. Cause Cause. This gene mutation is found in some, but not all the cells of the body.

Gene mutations that are only found in some cells of the body are not inherited in families, but occur during the early development of an embryo. Inheritance Inheritance. These types of gene mutations are known as somatic gene mutations.

The reason that somatic gene mutations occur is unknown. There is nothing that either parent did, before or during the pregnancy that is known to cause this to happen. Diagnosis Diagnosis. Sturge-Weber syndrome SWS is diagnosed based on the symptoms. Not all children with port-wine birthmarks have SWS. In addition, a neurology and ophthalmology examination can be helpful.

Treatment Treatment. Seizures in SWS can be difficult to treat. The increased pressure in the eyes may be treated with eyedrops, such as timolol and latanoprost, which decrease fluid production in the eye.

Management Guidelines Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Prognosis Prognosis. The symptoms of Sturge-Weber syndrome tend to get worse with age. The long-term outlook varies depending on the severity of symptoms, and how well seizures and glaucoma can be controlled or prevented. More severe seizures at an early age are associated with an increased chance for developmental and intellectual disability.

Statistics Statistics. Do you have updated information on this disease?

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Sturge–Weber syndrome

It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome CAMS. Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,, persons The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1. Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 4,

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Sturge Weber Syndrome (Encephalotrigeminal Angiomatosis)

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.

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Sturge-Weber syndrome

Sturge—Weber syndrome , sometimes referred to as encephalotrigeminal angiomatosis , is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma , seizures , intellectual disability , and ipsilateral leptomeningeal angioma cerebral malformations and tumors. Sturge—Weber syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions.

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