At cleveland clinic epilepsy center, we have established a multidisciplinary team of dedicated pediatric. A case report 1saleem shaikh, 2abdur rahman alatram, 3sachdeva harleen abstract sturge weber syndrome is a neurocutaneous disorder caused by persistence of. Sturgeweber syndrome is also called encephalotrigeminal angiomatosis. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturge weber syndrome. Sturgeweber syndrome sws is a rare congenital disorder belongs to a group of disorders collectively known as the phakomatoses motherspot diseases. Developmental and cognitive impairments are more common in this group. There is no blood test for it, and no list of signs that must be present to decide that a person has sws. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation.
Sturge weber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. Sturgeweber syndrome is a neurological and vascular condition caused by a genetic mutation. Inspite of being uncommon, this is the most frequent disease among the neurocutaneous syndromes specially with vascular predominance, with a prevalence of 150,000 live births and no racial bias 2. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. On august 21, 2008 aiden, just 4 years old, underwent 11 hours of surgery to remove the right half of his brain. We exist to improve the quality of life and care for people with sturgeweber syndrome and associated port wine birthmark conditions. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sturgeweber syndrome. We support them with collaborative education and advocacy in tandem with translational research as we promote effective management and awareness. We also did not look specifically at the effects of anticonvulsant regimes. 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. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome cams.
Sturgeweber syndrome sws is a rare congenital neurocutaneous disorder. Sws is often characterized by a portwine birthmark on the childs face. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in. The birthmark is typically located near or around an eye or on the forehead, and varies in size and color. Sturgeweber syndrome sws is a rare disorder that is present at birth. Other symptoms associated with sturgeweber can include eye and. 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 is a rare, sporadic, congenital neurocutaneous syndrome, likely due to abnormal development of the cephalic microvasculature. Pdf sturgeweber syndrome a case report researchgate. Sws can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems i. 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. 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.
It is characterized by a congenital facial birthmark and neurological abnormalities. Sturgeweber syndrome sws is a rare disorder affecting the skin and nervous system. Sturgeweber syndrome sws is a rare neurological condition that is present at birth and is not hereditary. The ninds supports a broad program of research to better understand congenital seizure disorders. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. The klippeltrenaunay weber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Recently, researchers have found that the underlying cause of sws is a somatic mosaic mutation in the gnaq gene.
It usually occurs sporadically although it occasionally is found. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of sws with epilepsy in 7590% of the cases. Sturgeweber syndrome information page national institute. Pdf most of the documents on the racgp website are in portable document format pdf. Up to 10 ama pra category 1 credits not designated for selfassessment may still be earned by completing only the multiplechoice questions and issue evaluation. Sturgeweber syndrome sws, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal angiomas las and the skin of the face, typically in the ophthalmic v1 and maxillary v2 distributions of the trigeminal nerve. Sturgeweber syndrome sws belongs to a group of disorders known as phakomatoses. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. If you do not have it you can download adobe reader free of charge. This syndrome may be present in the brain or vascular malformations in the eye. Sturge weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. These disorders are characterized by hamartomas, which are congenital tumors arising from tissue that is normally found at the involved site. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Sturgeweber syndrome sws is a neurocutaneous disorder characterized by capillary malformation portwine stains, and choroidal and leptomeningeal vascular malformations.
Sturgeweber syndrome is a rare disease and our sample size is the largest series of subjects with sturgeweber syndrome treated with lowdose aspirin. Excellent documentation on the major neurological features of patients with sturgeweber syndrome including seizures, headache, focal neurologic deficits and. Sturge weber 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 sturge weber syndrome. When multiple antiseizure medications failed to control his seizures, his doctors recommended a brain surgery called hemispherectomy. Maria, md, mba sturgeweber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. Sturgeweber syndrome shnic specialized health needs interagency collaboration sturgeweber syndrome is a neurological and vascular condition caused by a genetic mutation. Characteristic feature of sturgeweber syndrome or encephalotrigeminal angiomatosis is a port wine stain in the face.
Mutation occurs after conception and is not an inherited trait. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy. 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. Pdf sturgeweber syndrome sws, also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder. Sturgeweber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Sturgeweber syndrome and secondary glaucoma american.
A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. Pdf on oct 5, 2015, mamatha p and others published sturge weber syndrome. Sturgeweber syndrome, also called as encephelotrigeminal angiomatosis is a disorder which is present from birth, but is not inherited. Sturge weber syndrome sws is a rare disorder characterized by the association of a facial birthmark called a portwine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma. Sturgeweber syndrome sws is classically associated with facial portwine stain pws in the ophthalmic division of the trigeminal nerve, glaucoma and vascular eye abnormalities, and ipsilateral occipital leptomeningeal angiomata. Sturgeweber syndrome, congenital, angiomatosis, otorhinolaryngology. Get a printable copy pdf file of the complete article 1. Know its causes, symptoms, treatment, life expectancy, prognosis and learning disability n children with sturge weber syndrome. Laser treatment, usually started in infancy, reduces the progression of the pws. Sturgeweber syndrome is a rare disorder that occurs. The main sign of sturgeweber syndrome is a port wine stain birthmark.
To open a pdf file you will need compatible software such. Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Sturgeweber syndrome sws, also called encephalo trigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal. Sturge weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Sturgeweber syndrometreatmentlife expectancyprognosis.
Sturge weber uk swuk, formerly sturge weber foundation uk, is a volunteer run registered charity formed in 1990. Sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often in. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturgeweberdimitri syndrome, etc 1,2. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Babies with sws are born with a birthmark on their face known as a portwine stain. Sturge weber syndrome nord national organization for rare. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. Sturgeweber 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. Although rare, it is possible for a child to have sws without a facial portwine birthmark. Sturgeweber syndrome genetic and rare diseases information. Sturgeweber syndrome sws, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal angiomas las and the skin of the face, typically in the ophthalmic v1. Full text full text is available as a scanned copy of the original print version.
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 weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. We now know that sturgeweber is caused by a dna change in the gene, gnaq. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. Patients with sws require consistent and thorough monitoring for development of glaucoma. To open a pdf file you will need compatible software such as adobe reader.
Sturgeweber syndrome sws is a rare disorder involving central. Maria, md, mba sturge weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. Three types of sws have been identified by varying degrees of involvement. Sturge weber syndrome shnic specialized health needs interagency collaboration sturge weber syndrome is a neurological and vascular condition caused by a genetic mutation. Debicka and adamczak 1979 described sturgeweber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, evidence of central nervous system involvement. Other symptoms associated with sturgeweber can include eye, endocrine and organ irregularities, as well as developmental. We exist to improve the quality of life and care for people with sturge weber syndrome and associated port wine birthmark conditions. There is no specific treatment for sturgeweber syndrome. Sturgeweber syndrome is an uncommon disorder and some features of this syndrome include anomalies of the nervous system and a congenital birthmark on the face. Sws, sturge weber syndrome, encephalotrigeminal angiomatosis, fourth phacomatosis, meningeal capillary angiomatosis, leptomeningeal angiomatosis, encephalofacial angiomatosis, sws type i facial and leptomeningeal angiomas, sws type ii facial angioma alone, no cns involvement, sws type iii isolated leptomeningeal angiomas. If you have problems viewing pdf files, download the latest version of adobe. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. This stain is a birthmark caused by an overabundance of.
These files will have pdf in brackets along with the filesize of the download. Related entries and links no related resource entered. An mri is often done to see if the person has too much blood. Sturgeweber syndrome pictures, life expectancy, treatment. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturgeweber syndrome comprises a birthmark called a port wine stain, usually on one side of the face and an abnormality of the brain. The treatment consists basically of controlling the already confirmed clinical. It probably occurs in 1 in 20,000 to 1 in 50,000 live births. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.
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. Neurological symptoms may include seizures and developmental delay. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturgeweber syndrome. Sturgeweber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in. The vbf sturgeweber 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.
Information from the national library of medicines medlineplus sturgeweber syndrome. The sturge weber syndrome program at cleveland clinic. The most common symptom of sturgeweber syndrome sws is a portwine stain, or birthmark, on the face. The main sign of sturge weber syndrome is a port wine stain birthmark. Sturge weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturgeweber syndrome is a rare, sporadic, congenital neurocutaneous syndrome, likely due to abnormal development of the cephalic microvasculature. Sturgeweber 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. Information from the national library of medicines medlineplus sturge weber syndrome. A child with this condition will have a portwine stain birthmark usually on the face and may have nervous system problems. 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 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. 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. The son had congenital glaucoma and the father had simple glaucoma.
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