Other symptoms associated with sturgeweber can include eye, endocrine and organ irregularities, as well as developmental. 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. For 150 years, families have come from around the corner and across the world, looking to boston childrens for answers. A diagnosis based on leptomeningeal lesions alone depends on the development of symptoms. Sturgeweber syndrome with osteohypertrophy of maxilla. Sturgeweber syndrometreatmentlife expectancyprognosis. The main sign of sturge weber syndrome is a port wine stain birthmark. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. This project is supported in part by the nih specialized programs of translational research in acute stroke spotrias network, and ninds grant 3p50ns055977 to washington university in st. Sturge weber syndrome classically consists of a facial capillary malformation previously called portwine stain or portwine birthmark, eye abnormalities and brain involvement. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. 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.
Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Innovative approaches to gauge progression of sturgeweber. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. 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.
Imaging imaging for optimized detection of sturgeweber syndrome. A neurocutaneous syndrome characterized by the presence of vascular tumors of the face facial hemangioma and nevus flammeus, usually called portwine stain, ipsilateral vascular anomalies angioma of the meninges and choroid, and intracranial calcifications. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturge weber 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. According to national institute of neurological disorders and stroke, sws is a neurological disorder. Characteristic feature of sturgeweber syndrome or encephalotrigeminal angiomatosis is a port wine stain in the face.
Weber syndrome definition of weber syndrome by medical. Anesthetic challenges of a child with sturgeweber syndrome for. 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 comprises a birthmark called a port wine stain, usually on one side of the face and an abnormality of the brain. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. 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. Weber sign weber syndrome weber, midbrain tegmentum lesion characterized by ipsilateral oculomotor nerve paresis and contralateral paralysis of the. Occasionally the substantia nigra can also be involved 5.
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. Sturge weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturgewebersyndrome with extreme ocular manifestation. Sturgeweber syndrome is a rare nonhereditary developmental condition with neurological and skin disorder, characterized by presence of port wine stain on the face along with ocular disorders, oral manifestations and leptomeningeal angiomas. Sturge weber syndrome is more accurately described as encephelotrigeminal agniomatosis. In general, the sturgeweber syndrome demon strates an expanded subarachnoid space, whereas this space will be compressed by a subdural hematoma. Other symptoms associated with sturgeweber can include eye and.
Here we present an unusual case of sturgeweber syndrome with osseous hypertrophy of maxilla. Weber syndrome is characterized by angiomas of the leptomeninges overlying the cerebral cortex in association with a facial nevus flammeus. The klippeltrenaunay weber syndrome 149000 is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of sws with epilepsy in 7590% of the cases. Weber s syndrome, also known as superior alternating hemiplegia, is a form of stroke characterized by the presence of an ipsilateral oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. Sturgeweber syndrome is an enigmatic disorder, seldom difficult to diagnose but often difficult to treat. Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve,5. What is the life expectancy of someone with sturge weber. Sturgeweber syndrome sws is a sporadic congenital neurooculocutaneous. The diagnosis of sturge weber syndrome is based on finding portwine stains and leptomeningeal capillaryvenous malformations. Sturge weber syndrome is an enigmatic disorder, seldom difficult to diagnose but often difficult to treat. Using imaging alone, it is difficult to distinguish benedikt syndrome from weber syndrome, unless clear involvement of the red nucleus can be identified, which is seen in the former 14. Journal of imab annual proceeding scientific papers 2008, book 1.
Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. We try to see the babies prior to the onset of symptoms so that their parents can receive anticipatory guidance regarding seizures and how to recognize and. Jul 23, 2014 sturge weber syndrome sws is a neurocutaneous disorder classically presenting with. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the gnaq gene, in progenitor vascular cells clinical context. These all result from a change early in development affecting the formation of blood vessels in a similar area, and occur on the same side of the body. Mayo clinic experience since 1964, we have seen 23 patients with the sturge weber syndrome. 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. Other symptoms associated with sturge weber can include eye, endocrine and organ irregularities, as well as developmental. The birthmark may vary in color from deep purple to light pink and is. Due to the rarity of book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing book syndrome. The history of sturgeweber syndrome and its ophthalmologic, dermatological, and neurological features and treatments are discussed.
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. Innovative approaches to gauge progression of sturgeweber syndrome the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The recent discovery of the somatic mutation causing sturgeweber syndrome holds promise for new treatment options in the future. Sturge weber syndrome nord national organization for rare. Sturgeweber syndrome classically consists of a facial capillary malformation previously called portwine stain or portwine birthmark, eye abnormalities and brain involvement. Babies with sws are born with a birthmark on their face known as a portwine stain. It is one of the phakomatoses and is often associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma.
Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, andor teeth. 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. Mar 27, 2019 the ninds supports a broad program of research to better understand congenital seizure disorders. People with sws have a mutation in the gnaq gene that leads to increased growth of blood vessels. Neurological symptoms may include seizures and developmental delay. It is characterized by a congenital facial birthmark and neurological abnormalities. Sturgeweber syndrome sws is a rare disorder characterized by the association of a facial birthmark called a portwine birthmark, neurological abnormalities. Sturgeweber syndrome sturgeweber syndrome, or encephalotrigeminal angiomatosis,is a phakomatosis characterized by facial port wine stains and pial angiomas. 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.
Sturge weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It describes the disorders and problems of both children and adults, considers the daytoday management of conditions and is written in nontechnical language for a wider audience whilst giving enough detail for the medical, nursing and. A facial portwine stain affecting the facial skin in the distribution of some or all divisions of the trigeminal nerve. Listing a study does not mean it has been evaluated by the u. This is the place where the most difficult challenges are faced head on, where the impossible becomes possible, and where families in search of answers find them. Pws is an exceptionally rare congenital present at birth vascular anomaly that results in a child having a large number of abnormal blood vessels. The syndrome was first described by moritz benedikt 18351920, a hungarianaustrian neurologist, in 1889 5. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. It is a nonfamilial congenital disorder of unknown incidence and cause. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Behrman re, kliegman rm, jenson hb nelson text book.
While sturgeweber syndrome may be detected on skull xray and ct, especially when there is established calcification and atrophy, mri is the imaging of choice for assessing detail. Know its causes, symptoms, treatment, life expectancy, prognosis and learning disability n children with sturge weber syndrome. Oslerweberrendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding. Sturgewebersyndrome with extreme ocular manifestation and rare association of upper airway angioma with. Parkes weber syndrome is a disorder of the vascular system, which is the bodys complex network of blood vessels. Sturge weber syndrome is a neurocutaneous syndrome with a facial portwine nevus and neurologic features, typically including seizures and hemiparesis.
Sturgeweber syndrome sws is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The az reference book of syndromes and inherited disorders provides a practical reference for carers and those with a syndrome or inherited disorder. Pdf sturge weber syndrome, also known as encephalo trigeminal hemangiomatosis, is an uncommon congenital condition. Sturgeweber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. A revised and updated directory for the internet age icon health publications on. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Sturge weber syndrome is a rare nonhereditary developmental condition with neurological and skin disorder, characterized by presence of port wine stain on the face along with ocular disorders, oral manifestations and leptomeningeal angiomas. Sturge weber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Information from the national library of medicines medlineplus sturgeweber syndrome. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome cams. Sturgeweber syndrome sws is caused by a mistake mutation in the gnaq gene. 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. In general, the sturge weber syndrome demon strates an expanded subarachnoid space, whereas this space will be compressed by a subdural hematoma.
Sturgeweber syndrome is a rare congenital disease, also called encephalotrigeminal angiomatosis, caused. Jan 11, 2019 characteristic feature of sturge weber syndrome or encephalotrigeminal angiomatosis is a port wine stain in the face. This stain is a birthmark caused by an overabundance of. Sturge weber syndrome is a neurocutaneous syndrome that occurs in 1 in 50,000 people. Sturgeweber syndrome is characterized by angiomas of the face, eye and leptomeninges. Louis school of medicine and ut southwestern medical center. Sturgeweber syndrome and secondary glaucoma american. Sturgeweber syndrome information page national institute. Here we present an unusual case of sturge weber syndrome with osseous hypertrophy of maxilla. The main sign of sturgeweber syndrome is a port wine stain birthmark. Sturgeweber syndrome sws is a neurocutaneous disorder, characterized by leptomeningeal angiomas involving the oral cavity, trachea, larynx, and face. It is caused by a somatic mutation a change in dna that occurs after conception in the precursors of the affected area in the gnaq gene on chromosome 9q21. 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. Book syndrome genetic and rare diseases information.
Although frequently included with other neurocutaneous genodermatoses, the syndrome is almost always sporadic in occurrence. It probably occurs in 1 in 20,000 to 1 in 50,000 live births. Sturge weber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Mayo clinic experience since 1964, we have seen 23 patients with the sturgeweber syndrome. Sturge weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturgeweber syndrome sws, also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological. 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. Its similar to the more common klippeltrenaunay syndrome kts and is treated in much the same way in contrast to children who have kts, children with pws have arteriovenous malformations avm. 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. This sourcebook has been created for parents who have decided to make education and internetbased research an integral part of the treatment process. Klippeltrenaunayweber syndrome this syndrome, a rare cause of secondary glaucoma that should be differentiated from sws, is characterized by a localized or diffuse capillary malformation that overlies a venous malformation andor lymphatic malformation with associated softtissue and bone hypertrophy. The az reference book of syndromes and inherited disorders. Book syndrome genetic and rare diseases information center.
A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. A 6yearold girl was brought to the emergency department with sudden onset of weakness in the left arm and leg. The official parents sourcebook on sturgeweber syndrome. Its similar to the more common klippeltrenaunay syndrome kts and is treated in much the same way. Sturge weber syndrome can be classified into three different types.
Sturge weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. The vascular system consists of arteries, which carry oxygenrich blood from the heart to the bodys various organs and tissues. This is case report of a 18yearold mentally disabled boy. Sws can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems i. Sturgeweber syndrome is a neurocutaneous syndrome with a facial portwine nevus and neurologic features, typically including seizures and hemiparesis. Anesthesia management of vitrectomy in a patient with sturge. Sturgeweber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in. Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. The history of sturge weber syndrome and its ophthalmologic, dermatological, and neurological features and treatments are discussed. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. It usually occurs sporadically although it occasionally is found.
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 syndrome genetic and rare diseases information. Anesthesia management of vitrectomy in a patient with. Osler weber rendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding. Sturgeweber syndrome sws, also referred to as encephalofacial. Sturgeweber syndrome is a neurocutaneous syndrome that occurs in 1 in 50,000 people. Information from the national library of medicines medlineplus sturge weber syndrome. The ninds supports a broad program of research to better understand congenital seizure disorders. The son had congenital glaucoma and the father had simple glaucoma. This gene makes a protein that is involved in regulating the growth of blood vessels. 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 syndrome was first described by moritz benedikt 18351920, a. Sturgeweber syndrome sws is a rare disorder affecting the skin and. 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.
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