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The Pan African Medical Journal 2020Sturge-Weber syndrome (SWS) or encephalofacial angiomatosis is a rare neurocutaneous and congenital ocular syndrome. It can cause two malformations: congenital facial...
Sturge-Weber syndrome (SWS) or encephalofacial angiomatosis is a rare neurocutaneous and congenital ocular syndrome. It can cause two malformations: congenital facial capillary planar angioma and leptomeningal venous-capillary angioma (most often parieto-occipital homolateral angioma). Neuroimaging, in particular magnetic resonance imaging (MRI), plays an important role in the diagnosis, ideally before the occurrence of neuro-ocular complications. We report the case of a child in whom SWS was suspected based on facial angioma and pharmaco-resistant epilepsy.
Topics: Child; Drug Resistant Epilepsy; Hemangioma; Humans; Magnetic Resonance Imaging; Male; Sturge-Weber Syndrome
PubMed: 33088402
DOI: 10.11604/pamj.2020.36.273.24346 -
European Journal of Neurology Oct 2022Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic...
BACKGROUND AND PURPOSE
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Five cases of subunit Alpha 11 (GNA11) mutations have been reported. We studied phenotypic features of GNA11-SWS and compared them with those of classic SWS.
METHODS
Within two European multidisciplinary centers we looked for patients with clinical characteristics of SWS and a GNA11 mutation. Clinical and radiological data were collected retrospectively and prospectively.
RESULTS
We identified three patients with SWS associated with a somatic GNA11 mutation. All had disseminated capillary malformation (CM) and hyper- or hypotrophy of an extremity. At birth, the CMs of the face, trunk and limbs were pink and patchy, and slowly darkened with age, evolving to a purple color. Two of the patients had glaucoma. All had neurological symptoms and moderate brain atrophy with a lower degree of severity than that classically associated with SWS. Susceptibility-weighted imaging (SWI) and contrast-enhanced fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging demonstrated the best sensitivity to reveal the pial angiomas.
CONCLUSIONS
We have differentiated two distinct clinical/radiological phenotypes of SWS; GNAQ- and GNA11-SWS. The classic GNAQ-SWS is characterized by a homogeneous dark-red CM, commonly associated with underlying soft tissue hypertrophy. The CM in GNA11-SWS is more reticulate and darkens with time, and the neurological picture is milder. SWI and post-contrast FLAIR sequences appear to be necessary to demonstrate leptomeningeal angiomatosis. Anti-epileptic medication or future targeted therapies may be useful, as in classic SWS.
Topics: Anticonvulsants; Brain; GTP-Binding Protein alpha Subunits; Humans; Magnetic Resonance Imaging; Retrospective Studies; Sturge-Weber Syndrome
PubMed: 35715928
DOI: 10.1111/ene.15452 -
Pediatric Neurology Jul 2018Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an... (Review)
Review
BACKGROUND
Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions.
METHODS
On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs.
RESULTS
One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences.
CONCLUSIONS
Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.
Topics: Child; Consensus; Humans; Infant; Patient Care Team; Practice Guidelines as Topic; Sturge-Weber Syndrome
PubMed: 29803545
DOI: 10.1016/j.pediatrneurol.2018.04.005 -
Minerva Stomatologica Feb 1988
Review
Topics: Angiomatosis; Child; Cranial Nerve Neoplasms; Facial Neoplasms; Humans; Male; Sturge-Weber Syndrome; Trigeminal Nerve
PubMed: 3287124
DOI: No ID Found -
Seminars in Roentgenology Jan 1976
Topics: Angiomatosis; Blindness; Calcinosis; Cerebral Angiography; Cerebrovascular Circulation; Diagnosis, Differential; Epilepsies, Partial; Glaucoma; Humans; Radionuclide Imaging; Sturge-Weber Syndrome; Technetium
PubMed: 814622
DOI: 10.1016/0037-198x(76)90063-8 -
Pediatric and Developmental Pathology :... 2000
Topics: England; Eponyms; Female; History, 19th Century; History, 20th Century; Humans; Male; Sturge-Weber Syndrome
PubMed: 10742420
DOI: 10.1007/s100249910040 -
Neurology India 2023
Topics: Humans; Sturge-Weber Syndrome; Hippocampal Sclerosis
PubMed: 37929486
DOI: 10.4103/0028-3886.388109 -
BMC Ophthalmology Jan 2021Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma...
BACKGROUND
Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient.
CASE PRESENTATION
A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes.
CONCLUSIONS
We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.
Topics: Adolescent; Choroid Neoplasms; Female; Glaucoma; Hemangioma; Humans; Polydactyly; Sturge-Weber Syndrome
PubMed: 33407220
DOI: 10.1186/s12886-020-01761-x -
QJM : Monthly Journal of the... Feb 2024
Topics: Humans; Sturge-Weber Syndrome; Cone-Rod Dystrophies; Seizures
PubMed: 37572312
DOI: 10.1093/qjmed/hcad190 -
Chemical Biology & Drug Design Feb 2018Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures),... (Review)
Review
Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures), and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis. By analysis of the interrelated molecular targets of SWS, some in vitro bioassay systems can be allotted for drug screening against its progression. Development of such platforms of bioassay can bring along the implementation of high-throughput screening of natural or synthetic compounds in drug discovery programs. Regarding the fact that study of molecular targets and their integration in biological assay design can facilitate the process of effective drug discovery; some potential biological targets and their respective biological assay for SWS drug discovery are propounded in this review. For this purpose, some biological targets for SWS drug discovery such as acetylcholinesterase, alkaline phosphatase, GABAergic receptors, Hypoxia-Inducible Factor (HIF)-1α and 2α are suggested.
Topics: Anticonvulsants; Biological Assay; Carbonic Anhydrase Inhibitors; Cholinesterase Inhibitors; Drug Discovery; Fibronectins; GTP-Binding Protein alpha Subunits, Gq-G11; High-Throughput Screening Assays; Humans; Sturge-Weber Syndrome
PubMed: 28941044
DOI: 10.1111/cbdd.13112