Les tableaux sont exclusivement disponibles en format pdf. Known also as sturge weber krabbe syndrome or sturge weber dimitri, it is neurooculocutaneous syndrome classically associated with port wine stain in the ophthalmic division of the trigeminal nerve, ipsilateral occipital leptomeningeal angiomata, and inconstant glaucoma and vascular eye abnormalities. It is characterized by a congenital facial birthmark and neurological abnormalities. Siegfried kalischer in 1901, and lannoisbernoud in 1898 gave further descriptions.
Information from the national library of medicines medlineplus sturge weber syndrome. Sturge weber syndrome and klippeltrenaunay syndrome are two examples of well known conditions that have received many names and classifications such as klippeltrenaunay weber syndrome, sturge weber disease, sturge weber krabbe syndrome, sturge kalischer weber syndrome, encephalotrigeminal angiomatosis and meningofacial angiomatosis 3. Pediatric sturgeweber syndrome childrens wisconsin. At cleveland clinic epilepsy center, we have established a multidisciplinary team of dedicated pediatric. Our dermatology online letter to the editor ooverlapping of.
This stain is a birthmark caused by an overabundance of. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Sturge weber syndrome was first sturgw by sturge infollowed by weber and volland in who described the intracranial calcification. This syndrome may be present in the brain or vascular malformations in the eye. Sturge weber syndrom hamartome, ektoneurodermale neuroektodermaldysplasie, kongenitale neurokutanes syndrom neuroretinoangiomatose. What is the life expectancy of someone with sturge weber.
Le geste avait ete associe a une application dantimitotique sur le site operatoire. For language access assistance, contact the ncats public information officer. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. An mri is often done to see if the person has too much blood. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Pdf we report a case of sturge weber krabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. William allen sturge first described the syndrome in 1879 in a child aged 6 and a half years. The particularity of the case is that being a rare disease, it is easily overlooked, although the patient had classic symptoms and imagistic findings for sturge weber krabbe disease. Sturge weber syndrome a rare congenital neurological and skin disorder associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations and tumors.
It is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. This is case report of a 18yearold mentally disabled boy. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Jan 15, 2008 no good populationbased data exist for how many people have sturge weber syndrome, however, estimates range between one in 2050,000 live births. Neurological symptoms include seizures that begin in infancy and may worsen with age. Most children with this condition are born with glaucoma or will develop it later in life. Encephalotrigeminal angiomatosis, sturge weber syndrome, seizures. Sturge weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. Neurological problems are caused by excessive blood vessel growth on the surface of. Sturge weber uk swuk, formerly sturge weber foundation uk, is a volunteer run registered charity formed in 1990. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Caution patients with sturgeweber syndrome, who have earlier age of seizure onset, may have a change in their seizure types over time, with the emergence of epileptic spasms or generalized seizure types, such as atypical absence, atonic and tonic seizures. Case case webwr standard treatment for sturge weber syndrome includes laser treatment for the portwine stain, anticonvulsants, and medical or surgical treatment for the glaucoma.
Uveal effusion induced by topical travoprost in a patient. 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. Other symptoms associated with sturge weber can include eye, endocrine and organ irregularities, as well as developmental. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturge weber syndrome. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. Uveal effusion induced by topical travoprost in a patient with sturge weber krabbe syndrome. 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. The sturge weber syndrome program at cleveland clinic. 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. Neurological symptoms may include seizures and developmental delay. Facial and meningeal angiomatosis associated with calcifications. Sturge weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark.
Although the precise etiology and pathogenesis are unclear, the postulated defect is primary venous dysplasia with failure of. We report a case of sturge weber krabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Parkes weber in 1922 demonstrated the intracranial calcifications, vincente dimitri in 1923, and krabbe in 1934 each contributed to the knowledge of the complete syndrome. Encephalotrigeminal angiomatosis sturgeweber syndrome. Our dermatology online letter to the editor ooverlapping. 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. We report a case of subtotal exudative retinal detachment associated with uveal effusion secondary to topical administration of travoprost in a patient with sturge weber krabbe syndrome. Sturgeweber syndrome is a neurocutaneoussyndrome, characterized by the association between facial portwine hemangiomas in the trigeminal nerve distribution area and vascular malformations of the brain leptomeningealangioma with or without glaucoma. Feb 11, 20 sturgeweber syndrome is a neurocutaneoussyndrome, characterized by the association between facial portwine hemangiomas in the trigeminal nerve distribution area and vascular malformations of the brain leptomeningealangioma with or without glaucoma. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturgeweber syndrome. Siihen liittyy loydoksia kasvoissa, silmissa ja aivoissa tai vain kahdessa tai yhdessa edella luetelluissa kehon osissa. Seizures caused by this condition usually begin in infancy and may worsen with age. Case case webwr standard treatment for sturge weber syndrome includes laser treatment for the portwine stain, anticonvulsants, and.
The main sign of sturge weber syndrome is a port wine stain birthmark. Sturgeweber syndrome sws is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. Sturge weber syndrome or sturge weber krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and. The first, most obvious sign of sturgeweber syndrome, is a baby born with a facial birthmark. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of sws with epilepsy in 7590% of the cases. Case report a 20yearold woman with rightsided sturge weber krabbe syndrome complicated by slight mental retardation without seizures was referred to our. The classic form affects leptomeninges, eyes, and face. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas it is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome cams. Sturgeweber syndrome and portwine stains caused by somatic. Sturgeweber syndrome is diagnosed based on an identification of the characteristic symptoms of the disease, a detailed patient history, and a thorough clinical evaluation. If you have problems viewing pdf files, download the latest version of adobe reader. Details regarding sequencing adapters, barcodes, and primer sequences are provided. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. Sturge weber syndrome definition at, a free online dictionary with pronunciation, synonyms and translation.
The ninds supports a broad program of research to better understand congenital seizure disorders. A case of sturgeweber syndrome romanian journal of. 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 sws is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. The application of piagets theory to the training of the. Cette triade a dabord ete ecrite par sturge en 1897 puis weber en a decrit les signes radiologiques en 1922. Sturgeweber syndrome sws is a rare congenital sporadic disease with neuroocular and. Sturge weber syndrome is a neurocutaneous condition characterized by facial port wine stain, seizures and other neurologic complications associated with angiomata of the leptomeninges, and glaucoma. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a. Sturgeweber syndrome information page national institute. Sturgeweber syndrome sws is a rare congenital sporadic disease with neuro ocular and. Cahiers dorphanet application mobile orphanet tutoriels procedures orphanet.
The charity exists to support those affected by sturge weber syndrome, promote research into the condition and raise awareness of the condition amongst both public and professionals. It usually will cover at least one eyelid and the forehead. To confirm a diagnosis, various imaging techniques can be used to assess the nuerological complications of 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. A noninherited congenital condition with vascular and neurological abnormalitiesit is characterized by facial vascular nevi portwine stain, and capillary angiomatosis of intracranial membranes meninges. Sturge weber syndrome sws encephalotrigeminal angiomatosis is a phakomatosis associated with portwine stains of the face, seizures, mental retardation, and usually ipsilateral meningeal vascular malformations. No good populationbased data exist for how many people have sturge weber syndrome, however, estimates range between one in 2050,000 live births. Sturgeweber syndrome genetic and rare diseases information.
Sturge weber syndrome sws is a rare congenital vascular disorder characterized by facial capillary malformation port wine stain and associated capillaryvenous malformations affecting the brain and eye. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturge weber dimitri syndrome, etc 1,2. Surgical treatment of epilepsy in sturge weber syndrome in. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. The outcome was favorable, the patient was seizuresfree. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus.
The authors rep o rts two pediat rical cases of sturge. Oirekuvan vaikeusaste vaihtelee suuresti yksilosta toiseen. Developmental and cognitive impairments are more common in this group. Sturge weber dimitri oireyhtyma sturge weber krabbe oireyhtyma lyhyesti. Sturge weber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. 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. Sturge weber syndrome is a neurological disorder characterized by seizures and a large portwine stain birthmark.
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