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European Journal of Pediatrics Apr 2024Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of...
Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy. Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.
Topics: Child; Humans; Male; Child, Preschool; Infant; Female; Drug Resistant Epilepsy; Retrospective Studies; Sturge-Weber Syndrome; Seizures; Epilepsy; Stroke; Status Epilepticus
PubMed: 38305888
DOI: 10.1007/s00431-024-05448-z -
Radiology Case Reports Apr 2024Sturge-Weber syndrome (SWS) is a rare congenital disorder associated with systemic vascular malformations characterized by port-wine stains, epilepsy, and glaucoma....
Sturge-Weber syndrome (SWS) is a rare congenital disorder associated with systemic vascular malformations characterized by port-wine stains, epilepsy, and glaucoma. Patients with SWS can develop stroke-like symptoms such as hemiparesis. We report a case of a 63-year old woman with SWS who developed left-sided hemiparesis and was finally diagnosed with myelin-oligodendrocyte glycoprotein (MOG) antibody-positive encephalitis. Brain magnetic resonance imaging (MRI) revealed right-dominant bilateral leptomeningeal enhancement, thickened dura mater, and a cerebellar lesion. Cerebrospinal fluid (CSF) examination showed pleocytosis. Both serum and CSF proved positive for MOG antibodies. The patient recovered immediately after intravenous methylprednisolone administration. SWS and MOG antibody-positive encephalitis share similar clinical findings of stroke-like symptoms and leptomeningeal enhancement on MRI. However, MOG antibody-positive encephalitis is highly steroid-responsive in most cases. If a patient with SWS develops stroke-like symptoms accompanied by abnormal CSF findings or subtentorial lesions, testing for MOG antibodies should be considered.
PubMed: 38292807
DOI: 10.1016/j.radcr.2024.01.006 -
JNMA; Journal of the Nepal Medical... Nov 2023Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies...
UNLABELLED
Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome.
KEYWORDS
brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.
Topics: Child, Preschool; Humans; Anticonvulsants; Brain; Port-Wine Stain; Seizures; Sturge-Weber Syndrome
PubMed: 38289732
DOI: 10.31729/jnma.8344 -
Cureus Dec 2023Sturge-Weber Syndrome (SWS) is a rare congenital developmental disorder that arises from the abnormal persistence of the embryonic vascular plexus. The syndrome...
Sturge-Weber Syndrome (SWS) is a rare congenital developmental disorder that arises from the abnormal persistence of the embryonic vascular plexus. The syndrome encompasses hamartomatous malformations that can impact the skin, eyes, and nervous system. The broad array of clinical manifestations and potentially life-threatening complications underscores the crucial and imperative need for an accurate diagnosis. An effective treatment strategy for SWS patients involves a multidisciplinary approach. Dental procedures in these individuals pose challenges due to the potential risk for substantial bleeding during both intra- and postoperative phases. This article aims to document a rare case of Sturge Weber Syndrome in a 21-year-old female patient who presented with seizures, unilateral facial port wine stains, gingival hyperplasia, and intracranial calcifications.
PubMed: 38274914
DOI: 10.7759/cureus.51110 -
BMJ Neurology Open 2024Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first...
BACKGROUND
Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first description in 1937.
CASE REPORT
A young adult man was initially evaluated at the age of 2 years for proptosis and progressive visual impairment of the right eye, followed by impairment in ocular abduction, adduction and elevation as well as amaurosis. MRI revealed an expansive formation centred in the right orbit compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit. Despite embolisation, proptosis and oedema of the periorbital tissue continued to worsen. The combination of facial, ocular and intracranial vascular malformations and the exclusion of alternative aetiologies led to a diagnosis of cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (Wyburn-Mason syndrome).
DISCUSSION
Important differential diagnoses are other CAMS, such as Sturge-Weber syndrome, as well as other conditions such as retinal cavernous haemangioma and vasoproliferative tumours. The optimal treatment regimen for severe cases of this syndrome is still unclear. Wyburn-Mason syndrome should be considered in patients presenting multiple arteriovenous malformations with orbital apex lesions.
PubMed: 38268749
DOI: 10.1136/bmjno-2023-000559 -
American Journal of Clinical Pathology May 2024We aimed to investigate the clinicopathologic features of and genetic changes in Sturge-Weber syndrome (SWS) in patients with refractory epilepsy.
OBJECTIVES
We aimed to investigate the clinicopathologic features of and genetic changes in Sturge-Weber syndrome (SWS) in patients with refractory epilepsy.
METHODS
Clinical data were retrospectively analyzed. H&E and immunohistochemistry were performed to assess pathologic changes. Targeted amplicon sequencing was applied to investigate the somatic GNAQ (c.548G>A) mutation. The potential predictors of seizure outcomes were estimated by univariate and multivariate statistical analyses.
RESULTS
Forty-eight patients with SWS and refractory epilepsy were enrolled. According to the imaging data and pathologic examination, ipsilateral hippocampal sclerosis (HS), calcification of leptomeningeal arteries, and focal cortical dysplasia were found in 14 (29.2%), 31 (64.6%), and 37 (77.1%) patients, respectively. A high frequency of GNAQ alteration was detected in both cerebral cortex (57.7%) and ipsilateral hippocampus (50.0%) from patients with SWS. During follow-up, 43 of 48 patients (85.4%) had achieved seizure control (Engel class I). Statistically, HS signs on imaging were found to be independent predictors of unfavorable seizure outcomes (P = .015).
CONCLUSIONS
Calcification of leptomeningeal arteries, focal cortical dysplasia, and GNAQ alteration are common features in SWS pathology. Patients with refractory epilepsy caused by SWS can achieve satisfactory seizure control after surgery, but seizure control was compromised in patients with comorbid HS.
Topics: Humans; Sturge-Weber Syndrome; Male; Female; Drug Resistant Epilepsy; Child; Adolescent; Retrospective Studies; Adult; Child, Preschool; Young Adult; GTP-Binding Protein alpha Subunits, Gq-G11; Mutation; Hippocampus; Infant; Middle Aged
PubMed: 38217527
DOI: 10.1093/ajcp/aqad174 -
Journal of Glaucoma May 2024In eyes with Sturge-Weber syndrome (SWS) with early onset glaucoma, primary combined trabeculotomy with trabeculectomy (CTT) had a good intermediate-term success rate...
PRCIS
In eyes with Sturge-Weber syndrome (SWS) with early onset glaucoma, primary combined trabeculotomy with trabeculectomy (CTT) had a good intermediate-term success rate and minimal postoperative complications.
DESIGN
Retrospective cohort study.
OBJECTIVE
To report the intermediate-term outcomes of primary CTT in early onset glaucoma with SWS.
PATIENTS AND METHODS
This study included 49 eyes of 49 children (1997-2020) with SWS and early onset glaucoma who underwent primary CTT with at least 1-year postoperative follow-up. Success was defined as complete when intraocular pressure was >5 mm Hg and ≤16 mm Hg under general anesthesia or ≤21 mm Hg in the clinic without antiglaucoma medications (AGMs) and as qualified with AGM.
RESULTS
The median age (interquartile range) at CTT was 0.58 (0.19, 8.3) years. The median postoperative follow-up was 4.7 years (2.5, 9). The majority were male children (31/49, 63%). Epilepsy was noted in 7 (14.3%) and diffuse choroidal hemangioma in 17 children (35%). At diagnosis, 37 eyes(75%), had corneal edema, and the mean (±SD) horizontal corneal diameter was 12.8 ± 0.7 mm. Postoperatively, the median intraocular pressure decreased from 26 (22, 30) mm Hg to 16 (12, 20) mm Hg ( P < 0.0001) and the median number of AGM reduced from 1 (0,1) to 0 (0,1; P < 0.01). Complete success probability of CTT was 86% (76, 96) at 1 year and 64% (49, 84) at 5 years. Qualified success was 98% (94, 100) at 1 year and 89% (78, 100) at 5 years. A larger cup-to-disk ratio ( P < 0.005) was associated with a higher risk of surgical failure. Postoperative complications were noted in 9 eyes (18%), all resolved with conservative management except one eye with a retinal detachment that ended in phthisis bulbi.
CONCLUSION
CTT as a primary procedure showed good long-term efficacy and safety in SWS with early onset glaucoma.
Topics: Humans; Trabeculectomy; Male; Sturge-Weber Syndrome; Retrospective Studies; Female; Intraocular Pressure; Infant; Child, Preschool; Glaucoma; Child; Treatment Outcome; Visual Acuity; Follow-Up Studies; Tonometry, Ocular
PubMed: 38194270
DOI: 10.1097/IJG.0000000000002355 -
Journal of Education and Health... 2023Studies on Sturge-Weber syndrome (SWS) have already focused on various medical aspects of this syndrome. This review is focusing on the psychological aspects of... (Review)
Review
Studies on Sturge-Weber syndrome (SWS) have already focused on various medical aspects of this syndrome. This review is focusing on the psychological aspects of Sturge-Weber syndrome patients, the behaviors of patients, and the effects of the disease on the children. This disorder is characterized by angiomas, glaucoma, and seizures with a birthmark. Patients with this syndrome have behavioral problems, a lack of social skills, and a lack of intellectual or academic skills. These patients are usually introverted because of a lack of warmth and limited communication. Friends or classmates tease them by calling them "ugly." All this leads to a lack of social skills, and they mostly keep their feelings to themselves and prefer to be alone. Because of all this mocking by classmates, they keep isolating themselves. All this causes psychological problems in children. They start behaving differently, have suicidal tendencies, and fight with their friends who bully them. Psychological problems are mostly seen in children who are lacking in intelligence and functioning and who have seizure disorders, mostly in those who have frequent seizures. Problems like anxiety, depression, mood changes, anger, and violence are also observed in these patients. All this is always ignored by the parents as well as the doctors. This review aims to focus on the psychological aspect of the patients with SWS, to inform the parents about the behavior of their children with SWS, and to pay more attention to the psychological problems. This review is focusing on the importance of the psychological behavior of patients with SWS, how to diagnose it at an early stage, and how to treat and take care of children with SWS.
PubMed: 38144021
DOI: 10.4103/jehp.jehp_104_23 -
JAAD Case Reports Jan 2024
PubMed: 38073866
DOI: 10.1016/j.jdcr.2023.10.008 -
Oman Journal of Ophthalmology 2023We present the case of a pregnant young woman with symptomatic diffuse choroidal hemangioma (CH), diagnosed with Sturge-Weber syndrome (SWS). Three months postpartum,...
We present the case of a pregnant young woman with symptomatic diffuse choroidal hemangioma (CH), diagnosed with Sturge-Weber syndrome (SWS). Three months postpartum, there was full spontaneous resolution of the subretinal fluid and improvement in the visual acuity (VA). A 29-year-old, 31-week pregnant female with a coagulation disorder and enoxaparin (clexane) treatment, complained of a left visual disturbance of 2 weeks duration. On examination, the right eye was normal; left eye VA was 6/12 (20/40) with a left eyelid port-wine stain and on funduscopic examination there was a serous retinal detachment. On ultrasound, there was diffuse thickening of the choroid with a focus superior and nasal to the disc with active vascularization - a diagnosis of diffuse CH was made. Magnetic resonance imaging (MRI) and MR venography studies of the brain and orbit revealed engorged orbital vasculature, and the diagnosis of SWS was made. Three months after Cesarean section with birth of a healthy baby boy, VA returned to 6/9 with full resorption of subretinal fluid. On fundoscopic exam, there were no retinal or vein occlutions but there were tortuous blood vessels with A-V crossing. This is a rare case of newly diagnosed SWS with symptomatic diffuse CH in pregnancy. Postpartum, there was full resolution of the subretinal fluid. A watchful waiting approach can be considered in such cases.
PubMed: 38059083
DOI: 10.4103/ojo.ojo_28_23