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International Medical Case Reports... 2024Sturge-Weber syndrome (SWS) is a complex rare genetic neuro-cutaneous disorder characterized by the presence of a port-wine stain, ophthalmic and intracranial...
BACKGROUND
Sturge-Weber syndrome (SWS) is a complex rare genetic neuro-cutaneous disorder characterized by the presence of a port-wine stain, ophthalmic and intracranial angiomatosis leading to seizures, ocular, and oral abnormalities.
CASE PRESENTATION
We report a 39-year-old, non-diabetic, non-hypertensive female refugee who presented initially with heart failure due to anemia for which she received blood transfusions. Later on admission, she developed multiple focal to bilateral seizures, severe irritability, aphasia, and right-sided hemiplegia, leading to admission to the ICU. A repeat medical history and examination revealed a faint left-sided ophthalmic port-wine stain that was initially unnoticed and a remote history of unprovoked seizures 20 years ago. Imaging revealed parietal calcifications and confirmed the diagnosis of SWS. Thus, a multidisciplinary approach was taken to fully understand the patient's diagnosis and determine a treatment strategy, involving consultations with the neurology, ophthalmology, otolaryngology, and physiotherapy departments. Successful seizure control was achieved by administering IV phenytoin for 3 days and the up-titrating of oral carbamazepine to 1g daily through a nasogastric tube. Unfortunately, due to the unavailability of personnel or resources, other important assessments for patients with SWS, such as advanced neuroimaging, psychiatric, plastic and neuro-surgery evaluations, as well as dentistry reviews, could not be conducted.
CONCLUSION
This case highlights the rare occurrence of adult-onset seizures in an undiagnosed SWS and their re-emergence after almost two decades without anti-seizure medications. It also highlights the importance of a comprehensive history and clinical examination, as this patient's diagnosis of SWS could have been missed if she had not experienced seizures on admission. Our study also demonstrates the challenges associated with managing such a complex condition in settings with limited resources.
PubMed: 38933806
DOI: 10.2147/IMCRJ.S472356 -
Asian Journal of Surgery Jun 2024
PubMed: 38876853
DOI: 10.1016/j.asjsur.2024.05.297 -
Neurology Jul 2024Surgery is widely performed for refractory epilepsy in patients with Sturge-Weber syndrome (SWS), but reports on its effectiveness are limited. This study aimed to... (Observational Study)
Observational Study
BACKGROUND AND OBJECTIVES
Surgery is widely performed for refractory epilepsy in patients with Sturge-Weber syndrome (SWS), but reports on its effectiveness are limited. This study aimed to analyze seizure, motor, and cognitive outcomes of surgery in these patients and to identify factors associated with the outcomes.
METHODS
This was a multicenter retrospective observational study using data from patients with SWS and refractory epilepsy who underwent epilepsy surgery between 2000 and 2020 at 16 centers throughout China. Longitudinal postoperative seizures were classified by Engel class, and Engel class I was regarded as seizure-free outcome. Functional (motor and cognitive) outcomes were evaluated using the SWS neurologic score, and improved or unchanged scores between baseline and follow-up were considered to have stable outcomes. Outcomes were analyzed using Kaplan-Meier analyses. Multivariate Cox regression was used to identify factors associated with outcomes.
RESULTS
A total of 214 patients with a median age of 2.0 (interquartile range 1.2-4.6) years underwent surgery (focal resection, FR [n = 87]; hemisphere surgery, HS [n = 127]) and completed a median of 3.5 (1.7-5.0) years of follow-up. The overall estimated probability for being seizure-free postoperatively at 1, 2, and 5 years was 86.9% (95% CI 82.5-91.6), 81.4% (95% CI 76.1-87.1), and 70.7% (95% CI 63.3-79.0), respectively. The overall estimated probability of being motor stable at the same time post operatively was 65.4% (95% CI 58.4-71.2), 80.2% (95% CI 73.8-85.0), and 85.7% (95% CI 79.5-90.1), respectively. The overall probability for being cognition stable at 1, 2, and 5 years was 80.8% (95% CI 74.8-85.5), 85.1% (95% CI 79.3-89.2), and 89.5% (95% CI 83.8-93.2), respectively. Both FR and HS were effective at ensuring seizure control. For different HS techniques, modified hemispherotomy had comparable outcomes but improved safety compared with anatomical hemispherectomy. Regarding FR, partial resection (adjusted hazard ratio [aHR] 11.50, 95% CI 4.44-29.76), acute postoperative seizure (APOS, within 30 days of surgery; aHR 10.33, 95% CI 3.94-27.12), and generalized seizure (aHR 3.09, 95% CI 1.37-6.94) were associated with seizure persistence. For HS, seizure persistence was associated with APOS (aHR 27.61, 9.92-76.89), generalized seizure (aHR 7.95, 2.74-23.05), seizure frequency ≥30 times/month (aHR 4.76, 1.27-17.87), and surgical age ≥2 years (aHR 3.78, 1.51-9.47); motor stability was associated with severe motor defects (aHR 5.23, 2.27-12.05) and postoperative seizure-free status (aHR 3.09, 1.49-6.45); and cognition stability was associated with postoperative seizure-free status (aHR 2.84, 1.39-5.78) and surgical age <2 years (aHR 1.76, 1.13-2.75).
DISCUSSION
FR is a valid option for refractory epilepsy in patients with SWS and has similar outcomes to those of HS, with less morbidity associated with refractory epilepsy. Early surgical treatment (under the age of 2 years) leads to better outcomes after HS, but there is insufficient evidence that surgical age affects FR outcomes. These findings warrant future prospective multicenter cohorts with international cooperation and prolonged follow-up in better exploring more precise outcomes and developing prognostic predictive models.
CLASSIFICATION OF EVIDENCE
This study provides Class IV evidence that in children with SWS and refractory seizures, surgical resection-focal, hemispherectomy, or modified hemispherotomy-leads to improved outcomes.
Topics: Humans; Sturge-Weber Syndrome; Female; Male; Child, Preschool; Retrospective Studies; Seizures; Infant; Treatment Outcome; Drug Resistant Epilepsy; Cognition; Child; Neurosurgical Procedures
PubMed: 38875518
DOI: 10.1212/WNL.0000000000209525 -
Experimental and Therapeutic Medicine Jul 2024Sturge-Weber syndrome (SWS) type III, a rare neurocutaneous disorder, presents diagnostic challenges due to its variable clinical manifestations. The present study...
Sturge-Weber syndrome (SWS) type III, a rare neurocutaneous disorder, presents diagnostic challenges due to its variable clinical manifestations. The present study focuses on enhancing the understanding of this syndrome by conducting a detailed analysis of two pediatric cases and providing a comprehensive review of the existing literature. The cases, managed at the Children's Hospital Affiliated to Shandong University (Jinan, China), highlight the diverse clinical presentations and successful management strategies for SWS type III. In the first case, a 4-year-old male patient exhibited paroxysmal hemiplegia, epileptic seizures and cerebral angiographic findings indicative of left pia mater and venous malformation. The second case involved a 2.5-year-old male patient presenting with recurrent seizures and angiographic findings on the right side. Both cases underscore the importance of considering epileptic seizures, acquired and transient hemiplegia and cognitive impairments in the diagnosis of SWS type III. The present study provides insights into the effective use of both pharmacological and surgical interventions, drawing from the positive outcomes observed in these cases. The findings emphasize the need for heightened awareness and a meticulous approach in diagnosing and treating SWS type III, contributing to the better management and prognosis of this condition.
PubMed: 38868613
DOI: 10.3892/etm.2024.12588 -
Developmental Medicine and Child... Jun 2024
PubMed: 38867441
DOI: 10.1111/dmcn.15982 -
Developmental Medicine and Child... Jun 2024Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome, frequently associated with pharmaco-resistant, early-onset epilepsy. Optimal seizure control is paramount...
AIM
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome, frequently associated with pharmaco-resistant, early-onset epilepsy. Optimal seizure control is paramount to maximize neurodevelopment.
METHOD
A single-centre case series of 49 infants explored early SWS care. Ninety-two per cent of children developed seizures aged 0 to 3 years; 55% of cases were before diagnostic magnetic resonance imaging (MRI) or tertiary referral. Delay in SWS diagnosis affected 31% of infants because of a lack of gadolinium enhancement for initial MRI. First seizures were frequently prolonged, with phenytoin administration necessary in 46%. Presymptomatic antiseizure medication prophylaxis (n = 8/49) decreased seizure burden. No patients on antiseizure medication prophylaxis suffered status epilepticus for longer than 30 minutes, and half of them (n = 4) had not developed seizures at last follow-up (aged 2-10 years).
RESULTS
A parental survey enabled further service evaluation. Eighty-three per cent of parents considered local clinicians' understanding of SWS inadequate: 61% felt insufficiently informed about SWS and 81% received no epilepsy education before seizures.
INTERPRETATION
To overcome the identified shortfalls, guidelines towards improving and standardizing SWS management are proposed.
PubMed: 38867438
DOI: 10.1111/dmcn.15983 -
Child's Nervous System : ChNS :... Jun 2024The traditional imaging findings reported in Sturge-Weber syndrome (SWS) include endpoints of cortical injury-cortical atrophy and cortical calcifications-but also what...
PURPOSE
The traditional imaging findings reported in Sturge-Weber syndrome (SWS) include endpoints of cortical injury-cortical atrophy and cortical calcifications-but also what has been termed a "leptomeningeal angiomatosis," the latter recognized and reported as a leptomeningeal enhancement on magnetic resonance imaging (MRI). The objective of this study is to demonstrate through neuropathological correlation that the "leptomeningeal angiomatosis" in patients with Sturge-Weber syndrome (SWS), represents a re-opened primitive venous network in the subarachnoid space that likely acts as an alternative venous drainage pathway, seen separately to abnormal pial enhancement.
MATERIALS AND METHODS
Retrospective review of MR imaging and surgical pathology of patients that underwent surgery for epilepsy at a tertiary, children's hospital. A pediatric radiologist with more than 20 years of experience reviewed the MR imaging. Surgically resected brain specimens that had been sectioned and fixed in 10% paraformaldehyde for histologic processing, following processing and paraffin embedding, were cut into 5-µm unstained slides which were subsequently stained with hematoxylin and eosin (H&E). Slides were re-examined by a board-certified pediatric neuropathologist, and histologic features specifically relating to cerebral surface and vascularity were documented for correlation with MR imaging of the resected region performed prior to resection.
RESULTS
Five patients were reviewed (3 boys and 2 girls; the median age at the onset of seizures was 12 months (IQR, 7 to 45 months); the median age at surgery was 33 months (IQR, 23.5 to 56.5 months)). Surgical procedures included the following: 4, hemispherotomy (right: 2, left: 2) and 1, hemispherectomy (right). A subarachnoid space varicose network was present on both MRI and histology in 4 patients. Calcifications were seen on both MRI and histology in 3 patients. Abnormal leptomeningeal enhancement was present in 5 patients and seen separately from the subarachnoid vascular network in 4 patients.
CONCLUSION
Histopathology confirmed the MRI findings of a subarachnoid space varicose network seen separately from leptomeningeal enhancement and presumed to represent an alternative venous drainage pathway to compensate for maldevelopment of cortical veins, the primary abnormality in SWS. No pial-based angioma was identified.
PubMed: 38864886
DOI: 10.1007/s00381-024-06490-w -
Cureus May 2024Sturge-Weber syndrome (SWS) is characterized by hemangiomas, glaucoma, and central nervous system disorders. Here, we report the case of a 15-year-old boy with SWS and...
Sturge-Weber syndrome (SWS) is characterized by hemangiomas, glaucoma, and central nervous system disorders. Here, we report the case of a 15-year-old boy with SWS and upper-lip hypertrophy who underwent surgical orthodontic treatment for correction of a large overjet and deep overbite. In addition to the a large overjet and deep overbite, interdental spacing was observed in both the arches. The mandible was retrognathic and deviated to the right side. No maxillary occlusal canting or temporomandibular joint symptoms were observed. The patient was diagnosed with skeletal maxillary protrusion with spaced dentition and mandibular deviation to the right due to SWS. After presurgical orthodontic treatment using a multibracket appliance, we performed a sagittal split ramus osteotomy (SSRO) alone due to the presence of a hemangioma around the maxilla. No abnormal bleeding or cerebral hemorrhage due to increased blood pressure was observed during the SSRO. Postoperatively, the maxillary and mandibular arches were well-aligned, the deep overbite and excessive overjet improved, and bilateral angle class I molar and canine relationships were established. Furthermore, mandibular deviation improved, and the midlines of both arches approximately coincided with the facial midline. In conclusion, orthognathic surgery is feasible in patients with SWS after carefully evaluating the sites and sizes of the hemangiomas.
PubMed: 38854229
DOI: 10.7759/cureus.59964 -
Annals of Medicine and Surgery (2012) Jun 2024Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report...
BACKGROUND
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad.
CASE PRESENTATION
A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided.
CLINICAL DISCUSSION
This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications.
CONCLUSION
This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.
PubMed: 38846877
DOI: 10.1097/MS9.0000000000002049 -
Ophthalmology. Glaucoma Jun 2024
PubMed: 38842958
DOI: 10.1016/j.ogla.2024.05.002