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. 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. The authors rep o rts two pediat rical cases of sturge. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. Sturge weber syndrome encephalotrigeminal angiomatosis. The average life expectancy of a person with sturgeweber 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. Sturgewebersyndrom hamartome, ektoneurodermale neuroektodermaldysplasie, kongenitale neurokutanes syndrom neuroretinoangiomatose. Pdf we report a case of sturgeweber krabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Sturge weber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Sturgeweber syndrome sws is a rare congenital developmental, disorder manifesting with a facial portwine birthmark, and a vascular malformation of the brain. Sturgeweber syndrome sws is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma most often involving the occipital and posterior parietal lobes. Sturgeweber syndrome comprises a birthmark called a port wine stain, usually on one side of the face and an abnormality of the brain.
This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. Facial portwine stains are capillary malformations, which can reveal, very rarely, sturge weber syndrome sws. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Children with sturgeweber syndrome often develop progressive neurologic problems. Seizures are the usual neurological manifestation in up to%80 of patients. Sturgeweber syndrome is a neurocutaneous disorder classically presenting with a facial portwine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturgeweber syndrome sws is a rare disorder affecting the skin and. The sturgeweber connection is very similar to facebook, but provides a much more private and safe environment for discussion on sensitive details about sws and pwb. Offers education to general public, medical profession, government agencies, and funds research on these conditions. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. A noninherited congenital condition with vascular and neurological abnormalitiesit is characterized by facial vascular nevi portwine stain, and capillary angiomatosis of intracranial membranes meninges. Sturgeweber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes.
Sturgeweber foundation nord national organization for. 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. What is the life expectancy of someone with sturge weber. Sturgeweber syndrome genetic and rare diseases information. To confirm a diagnosis, various imaging techniques can be used to assess the nuerological complications of sturgeweber syndrome. To discuss the management and treatment and prognosis of patients diagnosed with the sturge weber syndrome. Other symptoms associated with sturgeweber can include eye, endocrine and organ irregularities, as well as developmental. Sturge weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. Sturgeweber syndrome sws is a neurocutaneous syndrome, characterized by the association of facial portwine hemangiomas in the trigeminal nerve distribution area, with vascular malformations. Magnetic resonance imaging mri, performed when she was an adult, confirmed the lack of a leptomeningeal lesion and existence of a. This means that sturge weber syndrome, or a subtype of sturge weber syndrome, affects less than 200,000 people in the us population. This stain is a birthmark caused by an overabundance of. Dec 26, 2018 sturge weber 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, 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 is diagnosed based on an identification of the characteristic symptoms of the disease, a detailed patient history, and a thorough clinical evaluation. Sturgeweber syndrome information page national institute. Sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth.
Sturgeweber syndrome and portwine stains caused by somatic mutation in gnaq. Sturge weber uk swuk, formerly sturgeweber foundation uk, is a volunteer run registered charity formed in 1990. Sturge weber syndrome is an enigmatic disorder, seldom difficult to diagnose but often difficult to treat. Sturgeweber syndrome definition at, a free online dictionary with pronunciation, synonyms and translation. A child with this condition will have a portwine stain birthmark usually on the face and may have nervous system problems. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Despite the presence of ocular and cutaneous manifestations, she had never been diagnosed with sturgeweber syndrome sws. Sturge weber syndrome pictures, life expectancy, causes. 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.
Sturgeweber syndrome encephalotrigeminal angiomatosis. Sturgeweber syndrome sws is a rare disorder that is present at birth. Provides information, support, education for sturgeweber syndrome, klippeltrenaunay weber syndrome, portwine stains sufferers. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.
To discuss the management and treatment and prognosis of. Sturge weber syndrome also known as sturge weber disease or encephalotrigeminal angiomatosis is a rare disorder present at birth. The sturgeweber foundation swf is a nonprofit, 501c3 organization for parents, professionals, and others concerned with port wine stains, sturgeweber syndrome sws, and klippeltrenaunay kt syndrome. Children with sturge weber syndrome often develop progressive neurologic problems. No good populationbased data exist for how many people have sturgeweber syndrome, however, estimates range between one in 2050,000 live births. Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. Introducing the sturgeweber connection, an online community by inspire. The ninds supports a broad program of research to better understand congenital seizure disorders. Sturgeweber syndrome is a neurocutaneous disorder classically presenting with a facial. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region.
This is case report of a 18yearold mentally disabled boy. Our community will have control over personal information and how it is shared. This book consolidates what is known about the sturgeweber syndrome in the hope that this information will be useful in the care of patients and serve as a stimulus to encourage research on some of the remaining questions about the syndrome. Sturgeweber syndrome and secondary glaucoma american. The sturge weber connection is very similar to facebook, but provides a much more private and safe environment for discussion on sensitive details about sws and pwb. The main sign of sturgeweber syndrome is a port wine stain birthmark. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with sturge weber can include eye, endocrine and organ irregularities, as well as developmental. Debicka and adamczak 1979 described sturgeweber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, evidence of. Pdf we report a case of sturge weber krabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the gnaq gene, in progenitor vascular cells. Sturgeweber syndrome symptoms, diagnosis, treatments and.
The main sign of sturge weber syndrome is a port wine stain birthmark. Provides information, support, education for sturge weber syndrome, klippeltrenaunay weber syndrome, portwine stains sufferers. 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 birthmark may vary in color from deep purple to light pink and is. Sturgeweber syndrome which is also known by the name encephalotrigeminal angiomatosis is a pathological condition in which there is development of leptomeningeal angiomas in the skin of the face normally in the ophthalmic and maxillary portions of the trigeminal nerve. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturge weber syndrome forum questions about sturge weber syndrome ask a question and get answers from other users. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Information from the national library of medicines medlineplus sturgeweber syndrome. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a. 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. Sturgeweber syndrome is a form of neurological disorder that is indicated at the time of a persons birth by seizure activity as well as a large portwine stain birthmark on the forehead and upper eyelid of one side of the persons face. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. It probably occurs in 1 in 20,000 to 1 in 50,000 live births.
Recently, researchers have found that the underlying cause of sws is a somatic mosaic mutation in the gnaq gene. Sturge weber syndrome sws is a neurocutaneous syndrome, characterized by the association of facial portwine hemangiomas in the trigeminal nerve distribution area, with vascular malformations. Sws is a severe neurocutaneous syndrome, which involves a facial portwine stain reaching the first branch of trigeminal nerve v1, ophthalmologic abnormalities especially congenital glaucoma and neurologic signs seizure, mental retardation, hemiparesis. A congenital disorder of unknown cause, sws is characterized by facial discoloration and neurological abnormalities. Sturgeweber syndrome sws is a rare neurological condition that is present at birth and is not hereditary.
Sturgeweber syndrome definition of sturgeweber syndrome. Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Facial portwine stains are capillary malformations, which can reveal, very rarely, sturgeweber syndrome sws. This disease is usually characterized by the presence of so called port wine stain birthmark on the face, eye and neurological abnormalities.
Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. 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. Introducing the sturge weber connection, an online community by inspire. The sturge weber syndrome program at cleveland clinic. This book consolidates what is known about the sturge weber syndrome in the hope that this information will be useful in the care of patients and serve as a stimulus to encourage research on some of the remaining questions about the syndrome. 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. Sturgeweber foundation canada inc support, education. Sturge weber syndrome is characterized by angiomas of the face, eye and leptomeninges. Sturgeweber syndrome is an enigmatic disorder, seldom difficult to diagnose but often difficult to treat. Sturge weber syndrome definition at, a free online dictionary with pronunciation, synonyms and translation.
This means that sturgeweber syndrome, or a subtype of sturgeweber syndrome, affects less than 200,000 people in the us population. Jan 15, 2008 no good populationbased data exist for how many people have sturgeweber syndrome, however, estimates range between one in 2050,000 live births. Sturge weber syndrome sws is a rare disorder that is present at birth. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. Sturgeweber syndrome facts and information disabled world.
These disorders are characterized by hamartomas, which are congenital tumors arising from tissue that is normally found at the involved site. 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. Sws is often characterized by a portwine birthmark on the childs face. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Neurological symptoms may include seizures and developmental delay. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturgeweberdimitri syndrome, etc 1,2. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. Sturgeweber syndrome sws belongs to a group of disorders known as phakomatoses. Pdf we report a case of sturgeweberkrabbe syndrome diagnosed in the department of radiology at the hassan ii university hospital in fes.
The klippeltrenaunay weber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Sturgeweber syndrometreatmentlife expectancyprognosis. Sturge weber syndrome is a neurocutaneous disorder classically presenting with a facial portwine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. At cleveland clinic epilepsy center, we have established a multidisciplinary team of dedicated pediatric. 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. Sturge weber syndrome sws is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma most often involving the occipital and posterior parietal lobes. Sturgeweber syndrome is characterized by angiomas of the face, eye and leptomeninges. Sturge weber uk swuk, formerly sturge weber foundation uk, is a volunteer run registered charity formed in 1990. It affects the skin in the distribution of the ophthalmic branch of the trigeminal nerve. 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.
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