-
Child's Nervous System : ChNS :... Oct 2020Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability.... (Review)
Review
PURPOSE
Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series.
METHODS
The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%).
RESULTS
All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits.
CONCLUSIONS
SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.
Topics: Child; Epilepsy; Female; Humans; Male; Neurosurgeons; Quality of Life; Seizures; Sturge-Weber Syndrome
PubMed: 32564157
DOI: 10.1007/s00381-020-04695-3 -
Current Pain and Headache Reports Oct 2022Headache disorders are often accompanied by associated symptoms involving organ systems other than the central and peripheral nervous system, including the... (Review)
Review
PURPOSE OF REVIEW
Headache disorders are often accompanied by associated symptoms involving organ systems other than the central and peripheral nervous system, including the integumentary, cardiovascular, and musculoskeletal system. However, skin changes or conditions are not commonly associated with headache disorders. Recognition of possible etiologies of headache in patients with bruising, rash, or neurocutaneous disorders can help guide workup and management. The purpose of this article is to review the various dermatologic presentations associated with headache.
RECENT FINDINGS
Multiple review articles and retrospective studies have noted the association between head pain with dermatologic changes including ecchymoses, inflammatory skin conditions, and neurocutaneous disorders. Postulated mechanisms include activation of the trigeminal autonomic system and involvement of similar pro-inflammatory molecules. In this review, we discuss three different classes of rashes including ecchymoses, inflammatory skin conditions, and neurocutaneous disorders, all of which have been associated with migraine and/or headache. We discuss the possible underlying pathophysiology and treatment options.
Topics: Humans; Neurocutaneous Syndromes; Ecchymosis; Retrospective Studies; Headache; Migraine Disorders; Skin Diseases
PubMed: 36066692
DOI: 10.1007/s11916-022-01080-4 -
Brain & Development Aug 2024Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and...
OBJECTIVES
Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III.
METHODS
This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children's Hospital. We analyzed brain MRI findings based on vascular and parenchymal features. Clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore).
RESULTS
This dedicated case series of patients with Type III SWS from a single center identified ten patients. All patients had classic stigmata indicative of SWS. Two distinct radiological phenotypes were found, one characterized by more pronounced deep venous enlargement, and the other, with more pronounced parenchymal abnormalities. There was heterogeneity in seizure presentation and outcome. Earlier age of onset and seizures predict more severe outcomes, as seen in classic SWS.
CONCLUSION
We could not find significant divergence in outcomes between patients with differing neuroimaging phenotypes. These results raise the question of whether the two distinct radiological phenotypes found in SWS Type III are reflective of different disease entities, with underlying genetic heterogeneity. These results suggest the need for larger, multi-center natural history studies.
Topics: Humans; Sturge-Weber Syndrome; Female; Male; Retrospective Studies; Child, Preschool; Magnetic Resonance Imaging; Neuroimaging; Child; Brain; Infant; Seizures; Adolescent
PubMed: 38740533
DOI: 10.1016/j.braindev.2024.05.001 -
Neuroradiology Apr 2020Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular... (Review)
Review
Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or "metameric" distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide spectrum of CVMS phenotypical presentations exist with various metameric distributions of slow-flow vascular lesions including facial venous vascular malformations, developmental venous anomalies, venous angiomas, cavernous malformations (cavernomas), dural sinus malformations, and maybe even vascular tumors such as cavernous hemangiomas. Awareness of the various manifestations as described herewith is important for treatment and screening purposes.
Topics: Craniofacial Abnormalities; Humans; Intracranial Arteriovenous Malformations; Neurocutaneous Syndromes; Phenotype; Sturge-Weber Syndrome
PubMed: 31932853
DOI: 10.1007/s00234-020-02362-7 -
European Journal of Paediatric... May 2022
Topics: Choroid Plexus; Humans; Sturge-Weber Syndrome; Tomography, X-Ray Computed
PubMed: 35570118
DOI: 10.1016/j.ejpn.2022.05.001 -
Archivos de La Sociedad Espanola de... May 2023Choroidal hemangioma (CH) is a benign vascular tumor dependent on the choroid. Two types of lesions are distinguished: circumscribed (CCH), the most frequent variant,... (Review)
Review
Choroidal hemangioma (CH) is a benign vascular tumor dependent on the choroid. Two types of lesions are distinguished: circumscribed (CCH), the most frequent variant, and diffuse (DCH), normally associated with Sturge-Weber syndrome. HCC appears as an orange mass that can present asymptomatically, however, when it produces symptoms, the most frequent is decreased visual acuity due to neurosensory retinal detachment. Due to its benign nature, only those that produce symptoms should be eligible for treatment. Knowledge of this pathology and its correct differential diagnosis is very relevant to establish the appropriate diagnosis and treatment, avoiding unnecessary treatments. There is currently a wide variety of multimodal diagnostic imaging tests that allow us to identify and adequately monitor this tumor. In addition, in recent years, there has been a change in the paradigm of the treatment of these tumors thanks to the use of photodinamic therapy, which has led to a significant improvement in the visual prognosis of these patients. This has been due to the use of photodynamic therapy as the treatment of choice for HCC.
Topics: Humans; Choroid Neoplasms; Fluorescein Angiography; Hemangioma; Sturge-Weber Syndrome
PubMed: 37062411
DOI: 10.1016/j.oftale.2023.04.006 -
The Journal of Craniofacial SurgeryThe Sturge-Weber syndrome (SSW) is a congenital neurocutaneous malformation, with angiomas involving the leptomeningea and facial skin. This syndrome is characterized by...
The Sturge-Weber syndrome (SSW) is a congenital neurocutaneous malformation, with angiomas involving the leptomeningea and facial skin. This syndrome is characterized by corticocerebral angiomatosis, cerebral calcifications, ocular affections, mental retardation, increased risk of stroke, counterlateral hemiplegia, and seizures. Another important feature of SSW is the flameus nevus on the face. In the oral cavity, SSW appears as hemangiomatous lesions affecting the mucous membranes and occasionally the dental pulp. Gingival hyperplasia may be present due to the use of anticonvulsant drugs. The present article reports the management of 2 female patients with Sturge-Weber syndrome who required oral surgery in regions affected by hemangiomatous lesions. In the first case, no hemostatic agents were necessary. On the other hand, the second case required the use of several hemostatic agents to control hemorrhage during surgery. Both patients recovered uneventfully without episodes of bleeding or infection.
Topics: Female; Gingival Hyperplasia; Humans; Nevus; Oral Surgical Procedures; Skin Neoplasms; Sturge-Weber Syndrome
PubMed: 32941214
DOI: 10.1097/SCS.0000000000007048 -
Seizure Apr 2023A subpopulation of patients with Sturge-Weber syndrome (SWS) develop medically intractable epilepsy. There is a paucity of literature on preoperative factors that... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
A subpopulation of patients with Sturge-Weber syndrome (SWS) develop medically intractable epilepsy. There is a paucity of literature on preoperative factors that predict postoperative seizure outcomes in these patients. An individual participant data meta-analysis (IPDMA) was performed to discern preoperative variables associated with favorable seizure outcomes in pediatric SWS patients undergoing epilepsy surgery.
METHODS
PubMed, Cochrane, Web of Science, and Scopus were independently queried following PRISMA guidelines. Studies that reported seizure outcomes in individual pediatric SWS patients were selected. Preoperative demographic variables and disease characteristics were recorded and evaluated in a time-to-event fashion via Cox regression and Kaplan-Meier analysis with log-rank test.
RESULTS
A total of 18 studies with 108 patients were included for meta-analysis. Median age at seizure onset was 4.5 months, and 85 patients (78.7%) were seizure-free at last follow-up (median: 72 months). On multivariable Cox regression, no variables were independent predictors of post-operative seizure freedom duration, including the extent of hemispheric resection. There were also no differences in time-to-seizure recurrence on Kaplan-Meier analysis when comparing those treated with hemispheric surgery and those with less than hemispheric surgery (p = 0.52).
CONCLUSION
This IPDMA showed that both resective and hemispheric epilepsy surgery achieve favorable and comparable seizure outcomes in pediatric SWS patients. The best available evidence using IPD suggests that resective surgery may be an appropriate alternative to hemispheric epilepsy surgery in well-selected patients. Prospective multi-institutional studies with greater follow-up are warranted to further investigate predictors of seizure outcome in pediatric SWS patients.
Topics: Humans; Child; Sturge-Weber Syndrome; Prospective Studies; Seizures; Epilepsy; Drug Resistant Epilepsy; Treatment Outcome; Retrospective Studies
PubMed: 36958063
DOI: 10.1016/j.seizure.2023.03.008 -
QJM : Monthly Journal of the... Feb 2024
Topics: Humans; Sturge-Weber Syndrome; Cone-Rod Dystrophies; Seizures
PubMed: 37572312
DOI: 10.1093/qjmed/hcad190 -
Case Reports in Pediatrics 2022Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to...
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge-Weber syndrome. The ophthalmological evaluation was unremarkable. Electroencephalogram showed abnormalities suggestive of a structural lesion in the right cerebral hemisphere. CT scan of the head revealed volume loss of right brain parenchyma with linear, cortical, as well as subcortical calcifications more evident in the right hemisphere. The child should be followed up regularly until adulthood for ophthalmological evaluation, recurrence of seizures, and other manifestations of this disorder.
PubMed: 35464665
DOI: 10.1155/2022/2191465