Sturge-Weber syndrome is a rare, sporadic, progressive neurocutaneous condition that presents with congenital hamartomatous malformations, epilepsy, and a variety of facial symptoms. We discussed a rare case of an eighteen-year-old female child who came to our neurology department with status epilepticus, mental impairment, and a port-wine in the lateral left side of her face. We diagnosed Sturge-Weber syndrome after a thorough neurological and radiological evaluation. The purpose of presenting this case is to illustrate both the characteristic presentation and the complications associated with managing Sturge-Weber syndrome.

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In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.

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.

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.

BACKGROUND: Epilepsy is a chronic neurological disease, usually decreasing the quality of life and often resulting in other comorbidities e.g. cognitive impairment in children. Despite the recent discovery of new antiepileptic drugs, roughly one in three patients suffers from drug-resistant seizures. Therefore, the prevention of epilepsy is becoming one of the most important challenges in medicine. Is it, however, in fact possible to prevent epilepsy?
UNASSIGNED: We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS.
This study included children with a diagnosis of SWS who had an EEG performed prior to seizure onset. Patients who did not develop epilepsy had a minimum follow-up of 3-years. We compared EEG characteristics of patients who developed epilepsy with patients who did not develop epilepsy by the time of their follow-up.
Eleven children were included in this study. EEG was performed at the median age of 2.1 months (range 1.0-22.1). Six children developed seizures with a time interval between EEG and seizure onset ranging from 2 days to 21 months. EEG background activity was asymmetric in 8 patients, 5 of whom later developed epilepsy. Focal interictal spikes or sharp waves were exclusively recorded in patients who developed later epilepsy (4 out of 6). One of these patients had a supposed false positive EEG as he did not developed epilepsy until 21 months later and one patient had a false negative EEG with seizures occurring 2 days after a normal EEG.
Spikes on EEG might be a useful marker to identify patients with SWS at risk of developing epilepsy. Their predictive value should be assessed in larger prospective studies.

BACKGROUND: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed.
OBJECTIVE: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital.
METHODS: This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013.
RESULTS: The study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin.
CONCLUSIONS: There are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

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The EEG in Sturge-Weber syndrome (SWS) was theorized over 50 years ago as changing over time from normality to focal asymmetry to lastly epileptiform. We sought to validate these findings in a larger cohort today. Children with confirmed SWS and routine EEG at our center were evaluated retrospectively. An EEG score (0-3) was created and linked to patient current age, overall neurologic function, and seizure frequency. Eighty-one EEGs from 44 patients with SWS (mean age 2.0 years (range: 0.2-37.9 years)) were evaluated and assigned an EEG score. The mean age for patients with an EEG score of 0-1 (normal or focal slowing) was 3.2 years (SEM 0.6), whereas those with an EEG score of 2-3 (focal sharp waves or frequent spike-wave bursts) was 8.7 years (SEM 1.7) (p=0.006). There was no correlation between the EEG score and either the SWS overall neuroscore or seizure subscore (measuring frequency). The EEG in patients with SWS does appear to evolve over time, becoming more abnormal with more frequent epileptiform activity, as suspected in smaller studies decades ago. This progressive change, however, did not correlate with the child\'s neurologic function or seizure frequency.