Sturgeweber syndrome sws is caused by a mistake mutation in the. The ninds supports a broad program of research to better understand congenital seizure disorders. Encephalotrigeminal angiomatosis sturgeweber syndrome. Christina lampe 0 zentrum sel tene erkrankungen zse 0 dr. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. Clinically, the fullblown condition consists of a facial portwine stain pws involving. It is characterized by a congenital facial birthmark and neurological abnormalities. Information from the national library of medicines medlineplus sturge weber syndrome. We report a case of sturgeweberkrabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Sturge weber syndrome definition at, a free online dictionary with pronunciation, synonyms and translation. Sturge weber syndrome sws is a congenital syndrome defined by the association of a facial capillary malformation portwine stain, with a vascular malformation of the eye andor brain leptomeningeal vascular malformations. Early single photon emission computed tomography in sturge. Alex, pictured this month, has the condition sturge weber syndrome image. Sws, enzephalotrigeminale angiomatose, angiomatosis encephalofacialis, sturge weber krabbe syndrom, sturge weber krabbe angiomatose, sturge weber dimitrisyndrom k c o it s a v o h s a m i.
An mri is often done to see if the person has too much blood. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturgeweber syndrome. Objectivesfunctional cerebral imaging pet and spect have shown hypometabolism and hypoperfusion in the area of vascular malformation in children with epilepsy due to sturge weber syndrome. Debicka and adamczak 1979 described sturge weber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, evidence of central nervous system involvement. Sturgeweber if a wine stain is present around the eye the area of the first branch of the trigeminal nerve additional research should be done to look at the possibility of sturgeweber syndrome. Clinical and ctscan features of bilateral sturgeweber syndrome. There is no blood test for it, and no list of signs that must be present to decide that a person has sws. The main sign of sturge weber syndrome is a port wine stain birthmark. This syndrome may be present in the brain or vascular malformations in the eye.
Case case srj is a prestige metric based on the idea that not all citations are the same. Sturgeweber syndrome sws is an encephelotrigeminal angiomatosis, generally unilateral. Pdf we report a case of sturgeweberkrabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. The challenges of epilepsy surgery in a patient with sturge weber syndrome are complex but surmountable in the hands of experienced epilepsy specialists and surgeons working as a team.
Sturge weber syndrome or sturge weber krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and. Sturge weber syndrom hamartome, ektoneurodermale neuroektodermaldysplasie, kongenitale neurokutanes syndrom neuroretinoangiomatose. Sturge weber syndrome is a neurological disorder characterized by seizures and a large portwine stain birthmark. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge weber syndrome can affect a persons brain in either a unilateral or bilateral fashion, meaning the syndrome can affect either one or both sides of the persons brain. Neurological symptoms may include seizures and developmental delay. Sws, sturge weber syndrome, encephalotrigeminal angiomatosis, fourth phacomatosis, meningeal capillary. However, data are scarce in infants and do not exist in patients with sturge weber disease without epilepsy. The authors rep o rts two pediat rical cases of sturge. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. These files will have pdf in brackets along with the filesize of the download.
Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. We have treated eight patients with a 585 nm pulsed dye laser. Pdf most of the documents on the racgp website are in portable document format pdf. Les tableaux sont exclusivement disponibles en format pdf. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in. The klippeltrenaunay weber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. It can be present at birth or occur anytime throughout the lifespan. Sturge weber syndrome sws is a rare congenital neurocutaneous disorder characterized by facial capillary malformations andor cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome cams. Sturgeweber syndrome a rare congenital neurological and skin disorder associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations and tumors. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Encephalotrigeminal angiomatosis sws is part of a family of.
The average life expectancy of a person with sturge weber syndrome can be different in each patient and depends mainly on the severity of the disease, although most cases are quite mild and have a life expectancy similar to that of the general population. The pattern of perfusion during the first two years of life was studied including. Glaucoma increased pressure within the eyeball is present in 60% of individuals with sturge weber syndrome. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. Pdf we report a case of sturge weber krabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Toutes les informations et documents contenus dans ce site sont fournis uniquement a titre dinformation. It is unilateral on only one side 74% of the time and bilateral on both sides 26% of. Other symptoms associated with sturge weber can include eye, endocrine and organ irregularities, as well as developmental. What is the life expectancy of someone with sturge weber. Babies with sws are born with a birthmark on their face known as a portwine stain. The sturge weber syndrome program at cleveland clinic.
This is an open access article distributed under the terms of the creative commons. An estimated frequency of 1 per 0 live births has sws. Sturgeweber syndrome sws is a rare congenital sporadic disease with neuro ocular. Most children with this condition are born with glaucoma or will develop it later in life. Sturgeweber syndrome facts and information disabled world. At cleveland clinic epilepsy center, we have established a multidisciplinary team of dedicated pediatric. Failure of systemic propranolol therapy for choroidal hemangioma of sturge weber syndrome. Seizures caused by this condition usually begin in infancy and may worsen with age. Sturgeweber syndrome sws, or encephalotrigeminal angiomatosis, is a rare, congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation nevus.
The sturgeweber forum this is a forum for discussions about the medical manifestations associated with sturgeweber and quality of life and care concerns. Sturge weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. The vbf sturge weber syndrome chapter provides support and services freely and upon a volunteer basis for individuals and families living with sws an vascular birthmarks, while sponsoring research and promoting physician education and awareness, as well as education of the public at large. Sturge weber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Failure of systemic propranolol therapy for choroidal. Persons affected by the syndrome can experience, hemiparesis, or weakening or loss of use of one side of their body, opposite of the pws. Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than presurgery.
Port wine stain of sturgeweber syndrome represents a cosmetic prejudice with social consequences. It is an interesting historic fact that although weber publicly disclaimed a place for his name in the designation of this disease, and many other scientists i. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. This stain is a birthmark caused by an overabundance of. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. The son had congenital glaucoma and the father had simple glaucoma. Sturgeweber syndrome fact sheet sturge weber syndrome sws is a rare neurological and skin disorder characterized by nervous system problems and a permanent birthmark, known as a port wine birthmark pwb, usually on the face. Sturge weber is one of the rare phacomatosis or neurocutaneous syndromes, which consists of abnormal capillary malformations that can involve the face, eyes and leptomeninges of the brain. It is one of the phakomatoses and is often associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma cerebral malformations and tumors. To open a pdf file you will need compatible software such. Visit the sturgeweber forum to discuss the illness, treatment and more, and to interact with experts and others affected by the condition. Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturgeweberkrabe syndrome sws, also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects.
493 793 232 695 54 687 640 700 226 577 551 1238 787 869 1138 1097 1129 318 715 1030 944 416 9 893 259 905 513 1034 10