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Journal of Personalized Medicine Jun 2023Port-wine stains (PWS) are congenital low-flow vascular malformations of the skin. PWS tend to become thicker and darker with time. Laser therapy is the gold standard... (Review)
Review
BACKGROUND
Port-wine stains (PWS) are congenital low-flow vascular malformations of the skin. PWS tend to become thicker and darker with time. Laser therapy is the gold standard and the first-line therapy for treating PWS. However, some resistant PWS, or PWS that have tissue hypertrophy, do not respond to this therapy. Our aim is to evaluate the role of surgery in the treatment of PWS birthmarks.
METHODS
A literature search was performed in PubMed, Scopus, Web of Science (WOS) and Google Scholar for all papers dealing with surgery for port-wine stains, from January 2010 to December 2020 using the search strings: (capillary vascular malformation OR port-wine stains OR Sturge Weber Syndrome OR sws OR pws) AND (surgical OR surgery).
RESULTS
Ten articles were identified and used for analysis. They were almost all case series with a short follow up period and lacked an objective-systematic score of evaluation.
CONCLUSIONS
Delay in treatment of port wine stains may result in soft tissue and bone hypertrophy or nodules with disfiguring or destructive characteristics. The correction of PWS-related facial asymmetry often requires bone surgery followed by soft tissue corrections to achieve a more harmonious, predictable result.
PubMed: 37511671
DOI: 10.3390/jpm13071058 -
Life (Basel, Switzerland) Aug 2022Vascular malformations are frequent in the head and neck region, affecting the nervous system. The wide range of therapeutic approaches demand the correct anatomical,... (Review)
Review
Vascular malformations are frequent in the head and neck region, affecting the nervous system. The wide range of therapeutic approaches demand the correct anatomical, morphological, and functional characterization of these lesions supported by imaging. Using a systematic search protocol in PubMed, Google Scholar, Ebsco, Redalyc, and SciELO, the authors extracted clinical studies, review articles, book chapters, and case reports that provided information about vascular cerebral malformations, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 385,614 articles were grouped; using the inclusion and exclusion criteria, three of the authors independently selected 51 articles about five vascular cerebral malformations: venous malformation, brain capillary telangiectasia, brain cavernous angiomas, arteriovenous malformation, and leptomeningeal angiomatosis as part of Sturge-Weber syndrome. We described the next topics-"definition", "etiology", "pathophysiology", and "treatment"-with a focus on the relationship with the imaging approach. We concluded that the correct anatomical, morphological, and functional characterization of cerebral vascular malformations by means of various imaging studies is highly relevant in determining the therapeutic approach, and that new lines of therapeutic approaches continue to depend on the imaging evaluation of these lesions.
PubMed: 36013378
DOI: 10.3390/life12081199 -
Neurosurgical Focus May 2022Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom control is the focus of SWS treatment, since no causal therapy exists yet. For pharmacologically intractable epilepsy, surgery is a treatment option. The aim of this systematic review and meta-analysis was to provide an overview of the literature regarding lesionectomy in SWS with a focus on seizure outcome, complications, and motor and cognitive development.
METHODS
The PubMed and Embase databases were searched using a systematic search strategy to identify studies on SWS from their inception until 2021. Two independent researchers assessed the studies for inclusion and quality. Outcome measures were seizure outcome, postoperative complications, and motor and cognitive development. Thereafter, a systematic review was conducted, and a meta-analysis was performed for all included cohort studies. Risk of bias was assessed using the Newcastle-Ottawa Scale. Forest plots have been generated for all outcomes; risk ratio was used for pooled outcomes. A p value < 0.05 was considered as statistically significant.
RESULTS
After removal of duplicates, the authors screened 439 articles, of which 9 articles with 150 patients were included. Our case and 5 case reports and 4 retrospective cohort studies were included for systematic review. The latter 4 studies qualified for the meta-analysis. In these 4 articles, 144 patients received surgical treatment: 81 (56%) underwent focal lesionectomy and 63 (44%) hemispherectomy. Pooled outcome analysis for postoperative favorable seizure outcome showed a nonsignificant difference between lesionectomy and hemispherectomy (69.2% vs 87.3%; RR 0.73, 95% CI 0.50-1.08; t = -2.56, p = 0.08). Lesionectomy showed a significantly lower rate for developmental delay and postoperative hemiparesis in comparison with hemispherectomy (29.8% vs 76.3%; RR 0.41, 95% CI 0.28-0.59; z = -4.77, p < 0.0001 and 18.1% vs 100%; RR 0.11, 95% CI 0.06-0.21; z = -6.58, p < 0.0001, respectively).
CONCLUSIONS
Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.
Topics: Child, Preschool; Epilepsy; Hemispherectomy; Humans; Retrospective Studies; Seizures; Sturge-Weber Syndrome
PubMed: 35535828
DOI: 10.3171/2022.2.FOCUS21788 -
Epilepsy & Behavior : E&B Dec 2021This meta-analysis aimed to determine the main factors influencing surgical outcomes in children <3 years old with refractory epilepsy. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This meta-analysis aimed to determine the main factors influencing surgical outcomes in children <3 years old with refractory epilepsy.
METHODS
The PubMed and Cochrane database were systematically searched for epilepsy surgery outcomes from December 1, 1991, to March 30, 2021, using the following search terms: "Epilepsy surgery OR Seizure operation" AND "under three years" OR "first three years" OR "early childhood" OR "infancy OR infants." Seizure onset, duration of epilepsy, magnetic resonance imaging findings, age at the time of surgery, surgical methods, resection extent, and pathological findings were considered potential moderators of differences in seizure outcomes. The fixed-effects models, combined effect sizes, and 95% confidence intervals (CI) were used to calculate the influence of potential factors on seizure outcomes.
RESULTS
Thirty two studies (559 cases) were included in the meta-analysis. The significant factors that correlated with a lower seizure control rate were frontal lobectomy (odds ratio [OR]: 0.33, 95% CI: 0.12-0.91; p = 0.03) and malformation of cortical development (MCD) (OR, 0.38; 95% CI: 0.24-0.62; p < 0.01). A higher seizure control rate was observed in children with tumors (92.86%) and Sturge-Weber syndrome (SWS, 91.43%). Frontal lobe epilepsy induced by MCD was related to the worst postoperative efficacy (OR, 0.26; 95% CI: 0.13-0.53; p < 0.01).
SIGNIFICANCE
The results of our meta-analyses revealed that pathology and surgical location play critical roles in the outcome of epilepsy surgery in children <3 years old. Clarification of the etiology of epilepsy before surgery is critical for better postoperative outcomes.
Topics: Child; Child, Preschool; Drug Resistant Epilepsy; Epilepsy, Frontal Lobe; Humans; Infant; Magnetic Resonance Imaging; Seizures; Treatment Outcome
PubMed: 34731717
DOI: 10.1016/j.yebeh.2021.108369 -
Neurosurgical Focus Sep 2018OBJECTIVE Despite perioperative risks, epilepsy surgery represents a legitimate curative or palliative treatment approach for children with drug-resistant epilepsy... (Meta-Analysis)
Meta-Analysis
OBJECTIVE Despite perioperative risks, epilepsy surgery represents a legitimate curative or palliative treatment approach for children with drug-resistant epilepsy (DRE). Several factors characterizing infants and toddlers with DRE create unique challenges regarding optimal evaluation and management. Epilepsy surgery within children < 3 years of age has received moderate attention in the literature, including mainly case series and retrospective studies. This article presents a systematic literature review and explores multidisciplinary considerations for the preoperative evaluation and surgical management of infants and toddlers with DRE. METHODS The study team conducted a systematic literature review based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, targeting studies that investigated children < 3 years of age undergoing surgical treatment of DRE. Using the PubMed database, investigators selected peer-reviewed articles that reported seizure outcomes with or without developmental outcomes and/or perioperative complications. Studies were eliminated based on the following exclusion criteria: sample size < 5 patients; and inclusion of patients > 3 years of age, when demographic and outcomes data could not be separated from the cohort of patients < 3 years of age. RESULTS The study team identified 20 studies published between January 1990 and May 2017 that satisfied eligibility criteria. All selected studies represented retrospective reviews, observational studies, and uncontrolled case series. The compiled group of studies incorporated 465 patients who underwent resective or disconnective surgery (18 studies, 444 patients) or vagus nerve stimulator insertion (2 studies, 21 patients). Patient age at surgery ranged between 28 days and 36 months, with a mean of 16.8 months (1.4 years). DISCUSSION The study team provided a detailed summary of the literature review, focusing on the etiologies, preoperative evaluation, surgical treatments, seizure and developmental outcomes, and potential for functional recovery of infants and toddlers with DRE. Additionally, the authors discussed special considerations in this vulnerable age group from the perspective of multiple disciplines. CONCLUSIONS While presenting notable challenges, pediatric epilepsy surgery within infants and toddlers (children < 3 years of age) offers significant opportunities for improved seizure frequency, neuro-cognitive development, and quality of life. Successful evaluation and treatment of young children with DRE requires special consideration of multiple aspects related to neurological and physiological immaturity and surgical morbidity.
Topics: Child, Preschool; Disease Management; Drug Resistant Epilepsy; Electroencephalography; Humans; Infant; Neurosurgical Procedures; Observational Studies as Topic; Preoperative Care; Retrospective Studies; Treatment Outcome
PubMed: 30173613
DOI: 10.3171/2018.7.FOCUS18220 -
Epileptic Disorders : International... Apr 2018In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not... (Review)
Review
In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy. We systematically searched PubMed and Embase prior to January 2017 and included studies describing treatment outcome following epilepsy surgery in patients with genetic causes of epilepsy. We excluded studies in which patients were described with epilepsy due to Tuberous Sclerosis Complex or Sturge-Weber syndrome (since this extensive body of research has recently been described elsewhere) and articles in which surgery was aimed to be palliative. We identified 24 eligible articles, comprising a total of 82 patients who had undergone surgery for (mainly childhood-onset) refractory epilepsy due to 15 different underlying genetic causes. The success rate of surgery varied widely across these different genetic causes. Surgery was almost never effective in patients with epilepsy due to mutations in genes involved in channel function and synaptic transmission, whereas surgery was significantly more successful regarding seizure control in patients with epilepsy due to mutations in the mTOR pathway. Patients with a lesion on MRI tended to have higher seizure freedom rates than those who were MRI-negative. Although the evidence is still scarce, this systematic review suggests that studying genetic variations in patients with refractory epilepsy could help guide the selection of surgical candidates.
Topics: Drug Resistant Epilepsy; Humans; Magnetic Resonance Imaging; Neurosurgical Procedures; Treatment Outcome
PubMed: 29620010
DOI: 10.1684/epd.2018.0959 -
International Ophthalmology Feb 2018Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus... (Review)
Review
PURPOSE
Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder.
METHODS
A detailed literature search was conducted on PubMed, EMBASE, Cochrane Library, and Google Scholar using the key words. Forty-five articles matched our inclusion criteria that were included in this systematic review.
RESULTS
Glaucoma is the one of the commonest ocular manifestations of SWS. It is caused by anterior chamber malformations, increased pressure in the episcleral veins, and changes in ocular hemodynamics. Glaucoma associated with SWS is usually congenital but can develop adults as well. The treatment of glaucoma associated with SWS is quite challenging because of early-onset, severe visual field impairment at the time of diagnosis, and unresponsiveness to standard medical treatment. Several surgical procedures have been devised but the long-term control of the intraocular pressure and visual function remain unsatisfactory. Modifications in the filtration surgery techniques and use of newer anti-fibrotic agents have produced good control of intraocular pressure.
CONCLUSION
Management of glaucoma associated with SWS is multi-dimensional and needs both medical and surgical interventions for better control. The treatment should be devised on case to case basis depending upon the intraocular pressure, stage of the disease, and type of glaucoma.
Topics: Disease Management; Glaucoma; Humans; Intraocular Pressure; Sturge-Weber Syndrome
PubMed: 28064423
DOI: 10.1007/s10792-016-0412-3 -
Acta Ophthalmologica Nov 2016Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to... (Review)
Review
Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literature search using PubMed and Embase medical databases was performed to identify articles describing visual acuity (VA) and/or visual field (VF) findings in SWS patients. In addition, a Dutch multicentre cohort with 33 SWS patients was collected and the combined results of VA and VF findings are presented. Visual acuity results of 25 studies and VF results of 12 studies were suitable for data extraction. Description of the combination of both VA and VF findings was scarce. Homonymous hemianopia (HH) was present in 42% of SWS patients. Seventy per cent of eyes had a (near) normal vision, while VA of eyes with glaucoma or DCH was severely impaired in 28% and 67%, respectively. In the Dutch cohort, only 18% (6/33) of patients had (near) normal findings of both visual parameters. In addition, half of the patients with glaucoma suffered from a combination of a HH and VA impairment. In conclusion, although SWS patients are exposed to severe functional visual impairment due to the possible cumulative consequences of glaucoma, DCH and cerebral injury, description of the combination of both VA and VF results is scarce in the literature. Particularly, the combination of visual impairment due to glaucoma or DCH, and HH might be invalidating.
Topics: Cohort Studies; Humans; Netherlands; Sturge-Weber Syndrome; Vision Disorders; Visual Acuity; Visual Fields
PubMed: 27238857
DOI: 10.1111/aos.13074 -
Phlebology Jul 2017Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and... (Review)
Review
Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. Methods We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Thirty-six publications (48 patients) fulfilled the eligibility criteria. Results The median age of patients was 23 years (IQR, 8-32), and 24 (50.0%) were males. Lower extremity was affected in 42 (87.5%) and upper extremity in 6 (12.5%) patients; 15 (31.3%) patients developed high-output heart failure; 12 (25.0%) patients had chronic venous ulcerations, whereas 4 (8.3%) manifested distal arterial ischemia. The spinal arteriovenous malformations were reported in six (12.5%) patients and coexistence of aneurysmatic disease in five (10.4%) patients. The most frequently utilized invasive treatments were embotherapy followed by amputation and surgical arteriovenous malformation resection, and occasionally stent-graft implantation. All modalities showed clinical improvement. However, long follow-up and outcome remained unclear. Conclusion A diagnosis of Parkes Weber syndrome should be made on the presence of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation (as main defect) in overgrowth extremity. Arteriovenous malformation presents the criterion for distinguishing Parkes Weber syndrome from Klippel-Trenaunay syndrome, which is substantial for treatment strategy. The primary management goal should be patient's quality of life improvement and complication reduction. Embolization alone/combined with surgical resection targeting occlusion or removal of arteriovenous malformation "nidus" reliably leads to clinical improvement.
Topics: Adolescent; Adult; Arteriovenous Malformations; Child; Diagnosis, Differential; Female; Humans; Klippel-Trenaunay-Weber Syndrome; Lymphatic Abnormalities; Male; Pregnancy; Pregnancy Complications, Cardiovascular; Quality of Life; Risk; Sturge-Weber Syndrome; Young Adult
PubMed: 27511883
DOI: 10.1177/0268355516664212