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. Through rapid, quantitative brain imaging software, we enable improved diagnosis and treatment of dangerous neurological conditions like stroke, dementia, tbi. Magnetic resonance imaging and angiography can provide detailed information about vascular anomalies. Sws can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems i. To our knowledge, functional magnetic resonance imaging has not been described in the assessment of the visual function in sturgeweber syndrome patients. The natural history of sturgeweber syndrome is variable where some patients have refractory epilepsy and persistent neurologic deficits while others do well. Sturgeweber syndrome and secondary glaucoma american. Imaging of glutamate concentration in sturgeweber syndrome. Characteristic feature of sturgeweber syndrome or encephalotrigeminal angiomatosis is a port wine stain in the face. The advantage of synthetic mri for the visualization of early white.
Unlike other neurocutaneous disorders phakomatoses, sturge weber occurs sporadically without hereditary aetiology. This study describes the visual functional magnetic resonance imaging procedure and findings obtained. Sturgeweber syndrome sws is a neurocutaneous disorder characterized by capillary malformation portwine stains, and choroidal and leptomeningeal vascular malformations. 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. Focal white matter abnormalities related to neurocognitive. Sturgeweber syndrome sws is a rare disorder affecting the skin and. Visual functional magnetic resonance imaging in patients. Imaging ofthe sturge weber syndrome1 choong gon choi, m. Clinical and metabolic correlates of cerebral calcifications in sturge. Sturge weber syndrome sws is a neurocutaneous disorder characterized by facial port wine stain, glaucoma, and pial angiomatosis involving one cerebral hemisphere in 85% of the cases. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with sturgeweber syndrome followed up from january 1985 to may 2010. Sturgeweber 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.
Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Sturgeweber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. A facial portwine stain affecting the facial skin in the distribution of some or all divisions of the trigeminal nerve. We were successful in imaging at least 1 eye in 12 individuals with sturgeweber syndrome using enhanced depth imaging sdoct. We combined perfusion weighted imaging pwi with 2deoxy218 ffluorodglucose fdg positron emission tomography pet to study the relationship between regional metabolic and perfusion abnormalities and their clinical correlates in children with sturge weber syndrome sws. A spectrum of unusual neuroimaging findings in patients with suspected sturgeweber syndrome. The postprocessing of swi images using custom software has been. Appearances are characteristic of sturgeweber syndrome. This syndrome may be present in the brain or vascular malformations in the eye.
The main sign of sturgeweber syndrome is a port wine stain birthmark. Imaging imaging for optimized detection of sturge weber syndrome. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a. Sturgeweber syndrome sws is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma.
Despite the presence of ocular and cutaneous manifestations, she had never been diagnosed with sturgeweber syndrome sws. Sturgeweber syndrome is sporadic neurocutaneous syndrome. Jul 23, 2014 sturge weber syndrome sws is a neurocutaneous disorder classically presenting with. The purposes of this article are to illustrate the typical imaging features of eight patients with this syndrome and to discuss the advantage of. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. Deep venous occlusion is a rare finding in sturge weber syndrome. This report presents a case of sturgeweber syndrome with cerebral deep venous occlusion demonstrated by magnetic resonance imaging. Through rapid, quantitative brain imaging software, we enable improved diagnosis and treatment of dangerous neurological conditions like stroke, dementia, tbi, parkinsons and ms. 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. Caution patients with sturge weber 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. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome.
Other symptoms associated with sturgeweber can include eye, endocrine and organ irregularities, as well as developmental. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with sturge weber syndrome followed up from january 1985 to may 2010. Improve diagnosis and monitoring of sturgeweber syndrome. On the other hand, ct scanning is superior to mri in detecting tramtrack.
The klippeltrenaunay weber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. 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. The results are compared with those documented in eight normal sedated children. Imaging ofthe sturgeweber syndrome1 choong gon choi, m. Sturge weber syndrome sws, also known as encephalotrigeminal angiomatosis, is a sporadic neurocutaneous disorder that affects the meninges most often the pia mater and acrachnoid mater of the brain and the skin of the face.
Deep venous occlusion is a rare finding in sturgeweber syndrome. Only 27 days to the 2nd annual international sws awareness day. We are not sure if this is possible and need your help, as we have been challenged to try and get 1,000 likes before friday 27th june to raise as much awareness both socially and professionally for sturge weber syndrome which is a very rare neurological condition that only effects 1 50,000 people. Jun 19, 2006 to investigate physiological alterations in sturge. Sturgeweber syndrome sws is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development. Western memorial regional hospital corner brook, newfoundland. Sturgeweber syndrome produces a variety of characteristic changes in diagnostic imaging. Sturgeweber syndrome information page national institute. The natural history of sturge weber syndrome is variable where some patients have refractory epilepsy and persistent neurologic deficits while others do well. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturge weber uk swuk, formerly sturge weber foundation uk, is a volunteer run registered charity formed in 1990. The ninds supports a broad program of research to better understand congenital seizure disorders. For clinicians and researchers alike, spintech is an essential mri technology partner.
The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis. Sturge weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. Information from the national library of medicines medlineplus 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. Developmental and cognitive impairments are more common in this group.
An objective diffusion tensor imaging study of children with sturge weber. Stage at 3t for a child with sturge weber syndrome. Natural history and magnetic resonance imaging followup in 9. Babies with sws are born with a birthmark on their face known as a portwine stain. The purpose of this study is to report different patterns of visual cortex activation in patients with sturge weber syndrome as compared with healthy control subjects. Sturgeweber syndrome is a congenital vascular disorder characterized by a facial portwine nevus, a leptomeningeal angioma, and neurologic complications eg, seizures, focal neurologic deficits, intellectual disability.
This report presents a case of sturge weber syndrome with cerebral deep venous occlusion demonstrated by magnetic resonance imaging. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. 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. Sturge weber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. A case is documented to demonstrate classical radiographic, computerized tomographic, nuclear scintigraphic. Neurological symptoms may include seizures and developmental delay. Nov 20, 2015 sturge weber syndrome sws is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development. The son had congenital glaucoma and the father had simple glaucoma. Sturge weber syndrome sws is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development. Sturge weber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, strokelike episodes, and mental retardation. 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. Appearances are characteristic of sturge weber syndrome. Multimodality imaging of cortical and white matter abnormalities in.
Imaging imaging for optimized detection of sturgeweber syndrome. Many patients with sws also suffer from drug resistant epilepsy. Sturgeweber syndrome comprises a birthmark called a port wine stain, usually on one side of the face and an abnormality of the brain. 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.
Sturge weber syndrome sws is frequently associated with neurologic complications such as seizures, so diagnosing this condition has important implications for patient management. Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. A child with this condition will have a portwine stain birthmark usually on the face and may have nervous system problems. The presented case has unusual clinical and imaging features compared with previously reported cases of patients with venous occlusion. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Impaired cortical venous outflow and abnormal deep venous collaterals are common in sturgeweber syndrome sws, but their relation to brain metabolism and function is poorly understood. An objective diffusion tensor imaging study of children with sturgeweber. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. 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. Six consecutive patients with a clinically established diagnosis of sws underwent mri using a 1. While sturge weber 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.
Magnetic resonance imaging mri, performed when she was an adult, confirmed the lack of a leptomeningeal lesion and existence of a. It is characterized by a congenital facial birthmark and neurological abnormalities. Know its causes, symptoms, treatment, life expectancy, prognosis and learning disability n children with sturge weber syndrome. The purpose of this study was to report unusual neuroimaging findings in patients with facial portwine stain pws and clinically suspected sws. 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. 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. Focal white matter abnormalities related to neurocognitive dysfunction. Sturge weber syndrome sws is a congenital disorder with variable intracranial involvement. Dynamic mr perfusion and proton mr spectroscopic imaging. Sturgeweber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, strokelike episodes, and mental retardation. Synthetic images were created using symri standalone software. Role of gadopentetate dimeglumine and gradientecho techniques. Sturgeweber syndrome sws is a congenital disorder with variable intracranial involvement. Cortical calcification in sturgeweber syndrome on mri.
Sturge weber syndrome produces a variety of characteristic changes in diagnostic imaging. Diffusion magnetic resonance imaging and proton magnetic resonance. Weber syndrome sws using mr perfusion imaging pwi and proton spectroscopic imaging mrsi, and their association with neurological status. Natural history and magnetic resonance imaging followup. Sturgeweber syndrome definition of sturgeweber syndrome. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. In this study, advanced mr imaging techniques, such as susceptibilityweighted imaging swi and diffusion tensor imaging dti, were applied in conjunction with positron.
Aberrant myelination in patients with sturgeweber syndrome. Dynamic mr perfusion and proton mr spectroscopic imaging in. 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 sws is a sporadic neurocutaneous. Sturge weber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Sturgeweber syndrometreatmentlife expectancyprognosis. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Sturge weber syndrome sws is an encephalo trigeminal angiomatosis, a rare congenital neurological and skin disorder, one of the phakomatoses. Sturgeweber syndrome genetic and rare diseases information. Mar 27, 2019 the ninds supports a broad program of research to better understand congenital seizure disorders. Sturge weber 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 is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation.
Other typical findings on brain imaging include brain atrophy decreased brain mass. Sturgeweber syndrome sws is frequently associated with neurologic complications such as seizures, so diagnosing this condition has important implications for patient management. Sturgeweber syndrome sws is a rare syndrome characterized by capillaryvenous malformations involving skin and brain. Aberrant myelination in patients with sturgeweber syndrome analyzed using synthetic quantitative magnetic resonance imaging. 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. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. Sturgeweber syndrome sws is a neurocutaneous disorder characterized by facial port. We combined perfusion weighted imaging pwi with 2deoxy218 ffluorodglucose fdg positron emission tomography pet to study the relationship between regional metabolic and perfusion abnormalities and their clinical correlates in children with sturgeweber syndrome sws. 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. 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. Other symptoms associated with sturge weber can include eye, endocrine and organ irregularities, as well as developmental.
It probably occurs in 1 in 20,000 to 1 in 50,000 live births. To investigate physiological alterations in sturge. Investigators from wayne state university studied a cohort of children with sturge weber syndrome sws and epilepsy using both glucosebased positron emission tomography fdgpet to evaluate metabolic activity and proton magnetic resonance spectroscopic imaging mrsi to evaluate glutamate turnover. Unlike other neurocutaneous disorders phakomatoses, sturgeweber occurs sporadically without hereditary aetiology. A spectrum of unusual neuroimaging findings in patients with.
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