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Pediatric Dermatology Dec 1987The Sturge-Weber syndrome is characterized by angiomas of the leptomeninges overlying the cerebral cortex in association with a facial nevus flammeus. Although... (Review)
Review
The Sturge-Weber syndrome is characterized by angiomas of the leptomeninges overlying the cerebral cortex in association with a facial nevus flammeus. Although frequently included with other neurocutaneous genodermatoses, the syndrome is almost always sporadic in occurrence. The most common associated neurologic abnormality is seizures, which are controlled in more than 50% of patients by the administration of anticonvulsants. Laser therapy is the most promising therapeutic option for cosmetic management of the facial nevus flammeus.
Topics: Angiomatosis; Humans; Infant; Infant, Newborn; Sturge-Weber Syndrome
PubMed: 3328186
DOI: 10.1111/j.1525-1470.1987.tb00797.x -
Der Radiologe Dec 2013Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting... (Review)
Review
Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia.
Topics: Adolescent; Female; Humans; Magnetic Resonance Imaging; Male; Nervous System Diseases; Sturge-Weber Syndrome; Tomography, X-Ray Computed
PubMed: 24292369
DOI: 10.1007/s00117-013-2554-x -
Pediatric Neurology May 2004Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly,... (Review)
Review
Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and glaucoma are among the most common symptoms and signs. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent strokelike episodes. In this review, we describe the syndrome's characteristic features, clinical course, and optimal management.
Topics: Epilepsy; Headache; Humans; Sturge-Weber Syndrome
PubMed: 15165630
DOI: 10.1016/j.pediatrneurol.2003.12.015 -
Journal of Child Neurology Aug 2003Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital... (Review)
Review
Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.
Topics: Blood Vessels; Cerebrovascular Circulation; Humans; Neurodegenerative Diseases; Seizures; Sturge-Weber Syndrome
PubMed: 13677575
DOI: 10.1177/08830738030180080701 -
Acta Neurologica Belgica Jun 2023
Topics: Humans; Brain; Brain Stem Infarctions; Sturge-Weber Syndrome
PubMed: 34997560
DOI: 10.1007/s13760-021-01861-5 -
The Medical Journal of Malaysia Mar 2023Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of...
INTRODUCTION
Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of the ophthalmic branch of the trigeminal nerve and the affection of the leptomeninges in the brain in the form of abnormal capillary venous vessels. The aim of this study is to look at the clinical features as well as the correlation of SWS with other comorbidities in hospitalised children.
MATERIALS AND METHODS
Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded.
RESULTS
Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four.
CONCLUSION
SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.
Topics: Child; Humans; Infant; Child, Preschool; Sturge-Weber Syndrome; Retrospective Studies; Glaucoma; Epilepsy; Paresis; Headache
PubMed: 36988522
DOI: No ID Found -
Journal of Neurology Sep 2022Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological,... (Review)
Review
BACKGROUND
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mutation in the GNAQ gene, leading to capillary venous malformations with neurological, ocular, and cutaneous abnormalities. Descriptions of adult and elderly patients with SWS are scarce compared to those of neonates or children.
METHODS
We reviewed clinical, neuro-radiological and electroencephalographical findings of adult patients diagnosed with SWS, treated in our tertiary center for rare epilepsies.
RESULTS
Ten adult patients were identified with a median age of 48 years at inclusion. All patients had seizures, with features of temporal lobe involvement for five patients. One patient presented typical drug-resistant mesial temporal seizures with ipsilateral hippocampal sclerosis and leptomeningeal enhancement, and was treated surgically. Other patients presented typical neurological and brain imaging features found in SWS. One patient without visible leptomeningeal angioma or brain calcifications presented neurological symptoms (tonic-clonic generalized seizures) for the first time at the age of 56. Two of the oldest patients in our cohort with supratentorial leptomeningeal angioma displayed contralateral cerebellar atrophy, consistent with crossed cerebellar diaschisis. Over 70 years of follow-up data were available for one patient whose epilepsy started at the age of 6 months, offering a vast overview of the course of SWS, in particular the onset of dementia and contralateral micro-bleeds in relation to the leptomeningeal angioma.
CONCLUSION
The long follow-up of our cohort allows for a description of the course of SWS and a characterization of uncommon neurological features in adult and elderly patients.
Topics: Adult; Aged; Brain; Child; Epilepsy; Hemangioma; Humans; Infant; Infant, Newborn; Middle Aged; Seizures; Sturge-Weber Syndrome
PubMed: 35508811
DOI: 10.1007/s00415-022-11132-9 -
Current Opinion in Neurology Apr 2006Recent neuroimaging, clinical and molecular neuropathologic studies have provided new insights into the neurologic aspects of Sturge-Weber syndrome and are summarized... (Review)
Review
PURPOSE OF REVIEW
Recent neuroimaging, clinical and molecular neuropathologic studies have provided new insights into the neurologic aspects of Sturge-Weber syndrome and are summarized here.
RECENT FINDINGS
Molecular studies suggest that abnormal brain blood vessel vasoactive and extracellular matrix molecule expression, as well as aberrant brain vascular innervation, contribute to the vascular malformation and its consequences. New magnetic resonance sequences may be useful for the early diagnosis of Sturge-Weber syndrome and perfusion magnetic resonance imaging, single photon emission computed tomography imaging, and positron emission tomography imaging studies are suggesting that decreased brain blood flow combined with altered hemodynamics during prolonged seizures may contribute to the neurologic declines in Sturge-Weber syndrome.
SUMMARY
Recent advances in our understanding of the neurologic issues offer promise for preventing brain injury in Sturge-Weber syndrome. More research is needed to translate advances in molecular research and neuroimaging advances into new treatment strategies for the disease.
Topics: Animals; Diagnostic Imaging; Electroencephalography; Humans; Sturge-Weber Syndrome
PubMed: 16538084
DOI: 10.1097/01.wco.0000218226.27937.57 -
Neurology India 2022
Topics: Humans; Sturge-Weber Syndrome; Brain
PubMed: 36352685
DOI: 10.4103/0028-3886.359273 -
Neurology May 2022
Topics: Adult; Humans; Sturge-Weber Syndrome
PubMed: 35410908
DOI: 10.1212/WNL.0000000000200512