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Management of pediatric choroidal hemangioma complicated by large exudative retinal detachment can be challenging, with few options available. Limited data have been published on outcomes following proton radiotherapy (PRT) for management of these patients. In this retrospective case series, nine patients were treated with a low-dose PRT regimen of 20 Gy(relative biological effectiveness [RBE]) in 10 fractions, and two were treated with 15 Gy(RBE) in four fractions. Visual acuity improved in seven patients (64%) and remained stable in the remaining four (36%). In patients with imaging follow-up (10 patients), subretinal fluid resolved in nine patients (90%) and tumor thickness decreased or remained stable in 10 (100%). Complications were observed in eight of 11 patients (73%). One patient developed grade 2 cataract; otherwise, no grade ≥2 complications were observed.

Gain‐of‐function mutations in the receptor tyrosine kinase pathway are often lethal; yet, it might be tolerated at very low frequencies as postzygotic mosaics resulting in a vast range of new phenotypes, unknown before the detection of the mosaic disorder. With the advent of ultra‐accurate next‐generation sequencing, these undercharacterized mosaics hidden in a few cells can now be better characterized in terms of their biological relevance in disease., Mutations occurring during embryonic development affect only a subset of cells resulting in two or more distinct cell populations that are present at different levels, also known as postzygotic mosaicism (PZM). Although PZM is a common biological phenomenon, it is often overlooked as a source of disease due to the challenges associated with its detection and characterization, especially for very low‐frequency variants. Moreover, PZM can cause a different phenotype compared to constitutional mutations. Especially, lethal mutations in receptor tyrosine kinase (RTK) pathway genes, which exist only in a mosaic state, can have completely new clinical manifestations and can look very different from the associated monogenic disorder. However, some key questions are still not addressed, such as the level of mosaicism resulting in a pathogenic phenotype and how the clinical outcome changes with the development and age. Addressing these questions is not trivial as we require methods with the sensitivity to capture some of these variants hidden away in very few cells. Recent ultra‐accurate deep‐sequencing approaches can now identify these low‐level mosaics and will be central to understand systemic and local effects of mosaicism in the RTK pathway. The main focus of this review is to highlight the importance of low‐level mosaics and the need to include their detection in studies of genomic variation associated with disease.

Patients with combined phenotypes of Sturge–Weber syndrome and Klippel–Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel–Trenaunay and Sturge–Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co‐existence of a novel somatic KRAS c.182_183 delins TC mutation and GNAQ c.548G>A mutation was identified in the affected skin tissue rather than paired peripheral blood. The somatic mutations of GNAQ and KRAS may affect MAPK‐ERK signaling pathway, resulting in endothelial anomaly and blood vessel malformation.

Contains fulltext : 282718.pdf (Publisher’s version ) (Closed access) BACKGROUND AND PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Five cases of subunit Alpha 11 (GNA11) mutations have been reported. We studied phenotypic features of GNA11-SWS and compared them with those of classic SWS. METHODS: Within two European multidisciplinary centers we looked for patients with clinical characteristics of SWS and a GNA11 mutation. Clinical and radiological data were collected retrospectively and prospectively. RESULTS: We identified three patients with SWS associated with a somatic GNA11 mutation. All had disseminated capillary malformation (CM) and hyper- or hypotrophy of an extremity. At birth, the CMs of the face, trunk and limbs were pink and patchy, and slowly darkened with age, evolving to a purple color. Two of the patients had glaucoma. All had neurological symptoms and moderate brain atrophy with a lower degree of severity than that classically associated with SWS. Susceptibility-weighted imaging (SWI) and contrast-enhanced fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging demonstrated the best sensitivity to reveal the pial angiomas. CONCLUSIONS: We have differentiated two distinct clinical/radiological phenotypes of SWS; GNAQ- and GNA11-SWS. The classic GNAQ-SWS is characterized by a homogeneous dark-red CM, commonly associated with underlying soft tissue hypertrophy. The CM in GNA11-SWS is more reticulate and darkens with time, and the neurological picture is milder. SWI and post-contrast FLAIR sequences appear to be necessary to demonstrate leptomeningeal angiomatosis. Anti-epileptic medication or future targeted therapies may be useful, as in classic SWS.

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.

The aim of this report was to describe an approach for a child with phakomatosis pigmentovascularis Type IIb associated with bilateral Sturge-Weber syndrome and autistic spectrum disorder. A 6-year-old boy was referred to the Special Care Dental Clinic with the main complaints of "damaged teeth and pain." The physical examination revealed bilateral port-wine staining on the face, neck, and upper and lower limbs, congenital dermal melanocytosis on the back, and dilated blood vessels in the sclera. Intraoral examination revealed hypertrophy of the maxillary bone, diffuse and intense redness of the oral mucosa, crowding, anterior open bite, and carious lesions in the left and right upper second primary molars. The medical team was consulted prior to dental treatment to assess the risk of bleeding, and anesthesia was contraindicated. Instruction about brushing technique and procedures for a suitable oral environment were then carried out using a minimally invasive restorative treatment. The patient did not exhibit collaborative behavior, and follow up continues with the patient receiving preventive treatments. Therefore, a multidisciplinary approach to these patients is fundamental to avoid complications during dental intervention. Moreover, regular visits to the dentist reduce the need for invasive treatments and improve the well-being of these individuals.

Purpose To explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge-Weber syndrome (SWS) patients. Methods Sturge-Weber syndrome-induced glaucoma patients less than 4 years of age who underwent trabeculotomy in our Ophthalmology Department from February 2016 to June 2017 were included. Every patient could be divided into simple episcleral vascular abnormal network (SEVAN) or multiple episcleral vascular abnormal network (MEVAN) groups according to their episcleral hemangioma patterns. The intraocular pressure (IOP) was recorded during follow-up until the last visit. Results Fifty eyes (forty-six patients) of SWS were included. Mean age of surgery was 12.6 ± 15.1 months (range 1-47 months). Twenty-six eyes were in the SEVAN group, while 24 eyes were in the MEVAN group. There were no significant differences between the two groups in demographic data before surgery (p > 0.05). IOPs at 12 months (p = 0.013) and 24 months (p = 0.002) were significantly different between the two groups. At the 24-month follow-up, the cumulative proportions of trabeculotomy success in the SEVAN and MEVAN groups were 89.7% and 36.0%, respectively. Patients with MEVAN and larger preoperative corneal diameter (per 0.5 mm) were more likely to experience failed trabeculotomy (hazards ratio [HR], 7.997 [95% CI, 1.640-38.996], p = 0.010; 1.853 [95% CI, 1.128-3.042], p = 0.015). Conclusion Hemangiomas exhibited different distribution patterns between SEVAN and MEVAN. Trabeculotomy had a poorer prognosis in young SWS patients with MEVAN than in those with SEVAN. In addition to anterior chamber angle anomalies, vascular factors may contribute to the aetiology of SWS early-onset glaucoma.

Background There is a lack of consensus regarding how best to screen children with facial port-wine stains for Sturge-Weber syndrome. Many favor brain magnetic resonance imaging, and adjunctive electroencephalography is increasingly used. However, the sensitivity, specificity, and negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition is unclear. Methods A retrospective review of children with high-risk port-wine stains presenting consecutively to the outpatient laser clinic of a tertiary pediatric hospital between December 2015 and November 2016 was undertaken. Primary outcome measures were yield, accuracy, age of and protocols for screening magnetic resonance imaging and electroencephalography, type of and age at presenting seizure, and percentage referred to neurology. Results Of 126 patients with facial port-wine stains, 25.4% (32/126) were at high risk of Sturge-Weber syndrome (hemifacial, median, and forehead PWS phenotypes); 43.7% of these (14/32) underwent screening magnetic resonance imaging. Sturge-Weber syndrome was detected in 7.1% (1/14). Magnetic resonance imaging had false-negative results in 23.1% (3/13) of those screened. Screening magnetic resonance imaging had sensitivity of 25%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 76.9% for the detection of Sturge-Weber syndrome (hemifacial, median and forehead PWS phenotypes). Only one-third of those with false-negative magnetic resonance imaging were referred to neurology. Mean age of first seizure in those with false-negative screening magnetic resonance imaging was 28 months, vs 14 months in those not screened. Abnormal electroencephalographic signs were detected in the two infants who underwent presymptomatic electroencephalography. Conclusions Findings from this small cohort of individuals with port-wine stains that put them at high risk of Sturge-Weber syndrome suggest that children with positive screening magnetic resonance imaging will almost certainly develop Sturge-Weber syndrome but that negative screening magnetic resonance imaging cannot exclude Sturge-Weber syndrome (in up to 23.1% of cases). False-negative magnetic resonance imaging may delay seizure recognition. Seizure education, monitoring, and consideration of adjunctive electroencephalography are important irrespective of magnetic resonance imaging findings.

Sturge-Weber Syndrome (SWS) is among the neurocutaneous diseases, which has several clinical manifestations of ocular (glaucoma), cutaneous (port-wine stain), neurological (seizures) and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for the SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis. By analysis of the interrelated molecular targets of SWS, some in vitro bioassay systems can be allotted for drug screening against this syndrome. Development of such platforms of bioassay can bring along the implementation of high throughput screening of natural or synthetic compounds in drug discovery programs. Regarding the fact that study of biological targets and their integration in biological assay design can facilitate the process of effective drug discovery; some potential biological targets and their respective biological assay for SWS drug discovery are propounded in this review. For this purpose, some biological targets for SWS drug discovery such as acetylcholine esterase, alkaline phosphatase, gamma-aminobutyricacidergic, Hypoxia-Inducible Factor (HIF) -1α and 2α are suggested. This article is protected by copyright. All rights reserved.

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.

A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver failure to our tertiary pediatric hospital. She was diagnosed with drug reaction with eosinophilia and systemic symptoms complicated by viremia and evidence of viral hepatitis on liver biopsy. We discuss the role of viral reactivation in drug reaction with eosinophilia and systemic symptoms and the relevance of antiviral therapy in management.

Sturge-Weber syndrome (SWS) is characterized by facial capillary malformation, leptomeningeal capillary malformations, and choroidal and episcleral vascular malformations. These malformations produce neurologic and ophthalmological symptoms including seizures and glaucoma. A premature male newborn without prenatal diagnosis presented with severe bilateral SWS and was started on systemic sirolimus and aspirin. The patient has remained seizure-free for 23 months and demonstrated an excellent response to pulsed dye laser treatment.

Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder often related to varying degrees of motor impairment. The phenomenon of prolonged ictal paresis is a rare seizure sign that can be due to lesions affecting the centro-parietal lobe. Focal inhibitory motor seizures can be difficult to differentiate from other clinical entities such as stroke, migraine or postictal paresis. We describe the case of a 40-year-old patient suffering from Sturge-Weber syndrome, admitted due to prolonged right-sided hemiparesis following a usual seizure. Repeated EEGs during the prolonged deficit showed only intermittent left fronto-parietal sharp waves. (99m)Tc HMPAO-brain SPECT performed seven days after the last seizure showed a vast area of parieto-occipital hyperperfusion in the left hemisphere. Aggressive antiepileptic therapy dramatically improved the clinical symptoms and scintigraphic images, which corroborated the diagnosis of ictal paresis. This case highlights the role of SPECT in the evaluation of Sturge-Weber syndrome, not only to investigate progressive neurological deterioration, but also exacerbation of seizures or prolonged neurological deficits. In fact, it may be possible to document ongoing epileptic activity using SPECT, despite a non-contributory EEG, which may be of help in adapting a therapeutic strategy.

Sturge‐Weber Syndrome (SWS) also called encephalotrigeminal angiomatosis, belongs to a group of disorders collectively known as phakomatosis (“mother spot” disease). It is found worldwide. The incidence of SWS is estimated at 1:50,000. It is a neurocutaneous syndrome which includes heterogeneous group of disorders characterized by abnormalities of both the integuments and the central nervous system 1. SWS is a congenital, nonfamilial (inheritance is sporadic) disorder caused by the guanine nucleotide‐ binding protein (G protein) and q polypeptide (GNAQ) gene mutation 2. This results in altered regulation of structure and function of blood vessels, innervations of blood vessels, and expression of extracellular matrix and vasoactive molecules. The hallmark of SWS, usually obvious at birth, is a congenital facial cutaneous hemangioma (also known as port‐wine stain or facial nevus flammeus). This feature is almost always present (in up to 96% of patients) usually along the ophthalmic and maxillary distributions of the trigeminal nerve 3. Another feature which involves the leptomeninges is the leptomeningeal angiomata. It is demonstrable by neuroimaging, may be unilateral or bilateral and commonly located in the parietal and occipital regions. Neurologic manifestations include seizures, focal deficits, for example, hemiparesis and hemianopsia which may be transient, headaches, and developmental disorders; ophthalmic manifestations include buphthalmos and glaucoma. The Roach scale 4 used for classification identifies the following: Type I (72–75%) – with facial and leptomeningeal angiomas; Type II (13–15%) – facial angiomas alone (no cns lesion); and Type III (4–5%) – isolated leptomeningeal angiomas. Glaucoma may or may not be present in any of the types. Only rarely (approx. 5%) is intracranial involvement present without associated cutaneous nevus 5, 6. In the majority of cases (72%) the nevus is unilateral and ipsilateral to the intracranial abnormality. The most common clinical manifestation is childhood seizures, present in 71–89% of cases 5 that are often refractory to medical therapy 4. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and or hemianopsia 6. Approximately, a third of patients have a choroidal or scleral angiomatous involvement which may be complicated with retinal detachment, buphthalmos, or glaucoma 4. This case also presented with a history of perinatal asphyxia, seizures, and failure to thrive. In our setting, with associated poor obstetric care services leading often to perinatal asphyxia and limited investigative facilities, a clinical diagnosis of neurodevelopmental delay/impairments would often suffice in a case like this but for clinical curiosity, resources, and willingness of the parents to pay for CT scan. Perinatal asphyxia may be defined as an oxygen deprivation that occurs around the time of birth and may be caused by several perinatal events 7.This condition affects an estimated four million neonates each year and causes one million neonatal deaths worldwide and 98% of these occur in low and middle income countries 7, 8. Many of the affected infants recover from hypoxic episodes; however, some develop hypoxic ischemic encephalopathy (HIE) leading to varying degrees of neurological impairment and organ damage. Several factors that have been found to be associated with and increase the morbidity of perinatal asphyxia include, low socioeconomic status, inadequate antenatal care, and poor intra‐partum care due to unskilled birth attendance, intra‐ partum asphyxia, preterm delivery, low birth weight, and presence of obstructed labor amongst others 8, 9, 10, 11. To address this, Neonatal Resuscitation program courses have been implemented at various levels. However, in resource‐poor setting, perinatal asphyxia remains a major cause of severe and permanent neurological impairment and failure to thrive in neonates and early infancy 9, 10, 11.

Sturge-Weber syndrome (SWS) is a rare syndrome characterized by capillary-venous malformations involving skin and brain. Many patients with SWS also suffer from drug-resistant epilepsy. We retrospectively studied a series of six SWS patients with epilepsy and extensive neurosurgical resections. At time of surgery, the patients' age ranged from 11 to 35 years (with a mean of 20.2 years). All surgical specimens were well preserved, which allowed a systematic microscopical inspection utilizing the 2011 ILAE classification for focal cortical dysplasia (FCD). Neuropathology revealed dysmorphic-like neurons with hypertrophic cell bodies reminiscent to those described for FCD type IIa in all cases. However, gross architectural abnormalities of neocortical layering typical for FCD type IIa were missing, and we propose to classify this pattern as FCD ILAE type IIIc. In addition, our patients with earliest seizure onset also showed polymicrogyria (PMG; n = 4). The ictal onset zones were identified in all patients by subdural electrodes, and these areas always showed histopathological evidence for FCD type IIIc. Four out of five patients had favorable seizure control after surgery with a mean follow-up period of 1.7 years. We concluded from our study that FCD type IIIc and PMG are frequently associated findings in SWS. FCD type IIIc may play a major epileptogenic role in SWS and complete resection of the associated FCD should be considered a prognostic key factor to achieve seizure control.

Summary Objective Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomotor deterioration. The majority of patients with SWS have leptomeningeal angioma located over the temporal, parietal, and occipital lobes. We applied posterior quadrant disconnection surgery for this type of SWS with intractable seizure. We evaluated the efficacy of this procedure in seizure control and psychomotor development. Methods Ten patients who were surgically treated using the posterior quadrantectomy (PQT) were enrolled in this study. Surgical outcome was analyzed as seizure-free or not at 2 years after surgery. Psychomotor development was evaluated by the scores of mental developmental index (MDI) and psychomotor developmental index (PDI) in the Bayley Scales of Infant Development II preoperatively, and at 6 and 12 months after the PQT. Results Eight of 10 patients were seizure-free. Patients without complete elimination of the angiomatous areas had residual seizures. Average MDI and PDI scores before the surgery were 64.8 and 71.6, respectively. Scores of MDI at 6 and 12 months after the PQT in seizure-free patients were 80.5 and 84.5, respectively (p

Sturge-Weber syndrome is known to be associated with migraine attacks and prolong aura even without cerebral infarction. We report the case of a 36-year-old woman with type III Sturge-Weber syndrome developing with prolonged left homonymous hemianopsia after an intractable migraine-like headache and becoming a permanent visual field defect at 18-month follow up. By adopting a multimodality imaging study, we suggested that the underlying mechanism of prolonged visual field defect was due to blood flow disturbance and vasogenic leakage under the leptomeningeal angioma combining with atrophy and the damaged integrity of white matter in right occipital lobe.

In patients with epilepsy associated with Sturge-Weber syndrome (SWS), epileptogenesis has been suggested to be caused by chronic ischemia in cortical areas affected by leptomeningeal angiomatosis or by ischemia-related cortical malformations. However, this has not been fully verified electrophysiologically. We herein present two cases of SWS with medically intractable epilepsy in which the epileptogenic area involved focal cortical dysplasia (FCD) type IIa near the region of leptomeningeal angiomatosis. In both cases, the ictal-onset zones were identified by chronic subdural electrodes, and the presence of FCD type IIa was shown histopathologically. In SWS, especially in association with focal leptomeningeal angiomatosis, FCD may thus play a major role in epileptogenesis. FCD should therefore be demonstrated by the collective findings of perioperative neurophysiologic examination, anatomic and functional neuroimaging, and histopathologic examination.

Aim To review recent developments in the understanding, diagnosis, and treatment of Sturge–Weber syndrome (SWS). Method Members of the Brain Vascular Malformation Consortium Sturge–Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement. The proliferation of centers and advocacy groups to care for patients with SWS and to stimulate research has aided the development of new insights into the clinical manifestations and the pathophysiology of neurological progression, and the development of novel hypotheses to direct future research. Many key questions remain, but the tools and networks to answer them are being developed. Interpretation This review summarizes important new knowledge and presents new research directions that are likely to provide further insights, earlier diagnosis, improved treatments, and possibly, prevention of this syndrome.

Facial port-wine stain (PWS) may be associated with cerebrovascular abnormalities such as Sturge-Weber syndrome (SWS). In a large series, we aimed to assess which topography of facial PWS can predict SWS. This was a cross-sectional study of consecutive patients with facial PWS seen in pediatric dermatologic or angiodysplasia consultations from 1993 to 2005 at the University Hospital Center of Tours. A standardized form was used to collect data on clinical and imaging findings. Patients with and without SWS were compared in terms of topography of the cutaneous angioma and related ophthalmologic and neurologic features. Two hundred fifty-nine patients were included, 15 with a diagnosis of SWS. All patients with SWS showed involvement of the V1 trigeminal cutaneous area. SWS was significantly associated with bilateral topography of the PWS, its extension to another territory, and involvement of the upper eyelid. Knowledge of the topography of facial PWS with risk of associated neurological or ocular anomalies allows for early diagnosis of SWS and avoids unnecessary and costly radiography for patients with uncomplicated facial PWS.

Summary Purpose: To investigate clinical correlates and longitudinal course of interictal focal cortical glucose hypermetabolism in children with Sturge-Weber syndrome (SWS). Methods: Fluorodeoxyglucose positron emission tomography (FDG-PET) scans of 60 children (age range 3 months to 15.2 years) with Sturge-Weber syndrome and epilepsy were assessed prospectively and serially for focal hypo- or hypermetabolism. Thirty-two patients had two or more consecutive PET scans. Age, seizure variables, and the occurrence of epilepsy surgery were compared between patients with and without focal hypermetabolism. The severity of focal hypermetabolism was also assessed and correlated with seizure variables. Key Findings: Interictal cortical glucose hypermetabolism, ipsilateral to the angioma, was seen in nine patients, with the most common location in the frontal lobe. Age was lower in patients with hypermetabolism than in those without (p = 0.022). In addition, time difference between the onset of first seizure and the first PET scan was much shorter in children with increased glucose metabolism than in those without (mean: 1.0 vs. 3.6 years; p = 0.019). Increased metabolism was transient and switched to hypometabolism in all five children where follow-up scans were available. Focal glucose hypermetabolism occurred in 28% of children younger than the age of 2 years. Children with transient hypermetabolism had a higher rate of subsequent epilepsy surgery as compared to those without hypermetabolism (p = 0.039). Significance: Interictal glucose hypermetabolism in young children with SWS is most often seen within a short time before or after the onset of first clinical seizures, that is, the presumed period of epileptogenesis. Increased glucose metabolism detected by PET predicts future demise of the affected cortex based on a progressive loss of metabolism and may be an imaging marker of the most malignant cases of intractable epilepsy requiring surgery in SWS.

Aim: Sturge–Weber syndrome is a rare congenital disorder that belongs to the group of neuroectodermal development anomalies called “phakomatoses”. Hyperplastic lesions affect the gingiva, causing massive spontaneous bleeding. Methods: We report a retrospective study of 11 patients affected by Sturge–Weber syndrome, with generalized gingival hyperplasia and angiomatous lesions of the oral cavity. Traditional scalpel surgery was performed in three patients; the remaining eight underwent laser gingivectomy. Specifically, four were treated with electrosurgery and a CO2 laser, and the remaining four patients were treated with a neodymium-doped yttrium aluminium garnet laser at 1.06, with a power of 4 or 6 W. In order to measure the patients’ pain response, we used a visual analog scale. We clinically evaluated the tissue response and the possible presence of relapse in the surgically-treated areas. Results: The three patients treated with traditional surgery had a relapse between 17 and 24 months after surgery. The four patients treated with the CO2 laser had a relapse between 36 and 42 months after surgery in 75% of cases. Conclusions: The most encouraging results were achieved using the neodymium-doped yttrium aluminium garnet laser; patients treated with this procedure had a relapse 5 years and 4 months from surgery in only 25% of cases.

The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system. The commonest neurocutaneous syndromes manifesting epilepsy are tuberous sclerosis and the Sturge-Weber syndrome. Neurofibromatosis and other lesser-known entities, such as epidermal nevus syndrome, are also known to be accompanied by epilepsy. These syndromes are not related to one another. This article reviews what has been learned about the epileptic syndromes in these disorders.

Purpose Anecdotal reports have described cortical malformations in epileptic patients with Sturge-Weber syndrome (SWS). No data are available regarding the prevalence and significance of this association. Methods We reviewed retrospectively the clinical profile, preoperative magnetic resonance imaging (MRI) studies, and pathology reports of all patients with SWS and medically intractable epilepsy evaluated in our epilepsy surgery program between 1979 and 2006. Results Twelve patients (male/female = 7/5) were identified. Mean age at seizure onset was 11.1 +/- 16.7 months. Seizures occurred daily in seven patients and weekly in five patients. A facial port-wine stain was noted in 10 cases. Eleven patients evidenced developmental delay and eight were hemiparetic. Eight patients underwent excisional surgery for epilepsy (mean age 10.3 +/- 6.5 year), including hemispherectomy (n = 4) and focal cortical resection (n = 4). Tissue was available for neuropathology in six operated cases and revealed polymicrogyria (n = 3) and cortical dysplasia (n = 4). Polymicrogyria was associated with cortical dysplasia in one child. Brain MRIs were reviewed in 10 of 12 patients and were consistent with cortical malformations in all cases. Conclusions We conclude that cortical malformations are frequent in patients with medically intractable epilepsy and Sturge-Weber-syndrome and may be the primary cause of epilepsy.

Sturge-Weber Syndrome is a rare neurocutaneous syndrome. This case involves a possible complication of excessive intra-operative bleeding. Surgical management of such patients may be challenging due to the risk of haemorrhage. The purpose of this case report is to discuss the importance of pre-operative angiography in such patients for oral surgical procedures.

Development of face processing after unilateral brain lesions sustained before one year of age was assessed in children aged between seven and 10 years by various tasks involving face processing. Each child was paired with an age- and IQ-matched control. There were three unilateral right-hemisphere lesions and three unilateral left lesions. The results showed that some of the skills relative to face processing were preserved (or recovered?), whereas other skills were severely impaired; the pattern varied from one child to another. The existence of these dissociations shows that preservation of low-level visual processing together with exposure to the appropriate stimuli for several years is by no means sufficient for face processing skills to develop normally.

To evaluate the efficacy of susceptibility weighted imaging (SWI) in comparison to standard T1 weighted postgadolinium contrast (T1-Gd) MRI in patients with Sturge-Weber Syndrome (SWS).Twelve children (mean age, 5.6 years) with the diagnosis of SWS and unilateral hemispheric involvement were recruited prospectively and examined with high resolution three dimensional SWI and conventional T1-Gd. Both SWI and T1-Gd images were evaluated using a four-grade scoring system according to six types of imaging findings (enlargement of transmedullary veins, periventricular veins, and choroid plexus, as well as leptomeningeal abnormality, cortical gyriform abnormality, and gray matter/white matter junctional abnormality). The scores of SWI versus T1-Gd images were then compared for each type of abnormality.SWI was superior to T1-Gd in identifying the enlarged transmedullary veins (P = 0.0020), abnormal periventricular veins (P = 0.0078), cortical gyriform abnormalities (P = 0.0020), and gray matter/white matter junction abnormalities (P = 0.0078). Conversely, T1-Gd was better than SWI in identifying enlarged choroid plexus (P = 0.0050) and leptomeningeal abnormalities (P = 0.0050).SWI can provide useful and unique information complementary to conventional contrast enhanced T1 weighted MRI for characterizing SWS. Therefore, SWI should be integrated into routine clinical MRI protocols for suspected SWS.

Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a rather uncommon congenital condition that is characterized by a combination of venous angioma of leptomeninges over the cerebral cortex and ipsilateral angiomatous lesions of the face and sometimes of the skull, jaws, and oral soft tissues. It is commonly referred to as Sturge-Weber syndrome after Sturge and Weber who first described this affliction in 1879. This article presents a case of Sturge-Weber syndrome associated with severe gingival enlargement, its management, and follow-up results.A 15-year-old male patient was referred to the Department of Periodontics, Government Dental College and Hospital, for severe gingival enlargement. A detailed dental and medical history, clinical examination, and investigations confirmed the diagnosis of Sturge-Weber syndrome. This report reveals a classic presentation of the syndrome with emphasis on its oral manifestations. Periodontal management included thorough scaling and root planing followed by periodontal flap surgery to treat the gingival enlargement. Histopathologic examination of the excisional biopsy specimen revealed features suggestive of fibrous gingival enlargement.Reevaluation of the patient after 2 years showed remarkable (90%) reduction of the gingival enlargement in the maxillary arch and complete diminution (100%) in the mandibular arch. However, a slight recurrence was noted in the maxillary right quadrant.Sturge-Weber syndrome is clinically important to the periodontist because of its associated gingival vascular features and their complicating manifestations. Periodic systemic and oral examinations are recommended to identify and prevent any complications from the cranial and oral lesions.

Functional reorganization after focal brain injury can lead to altered cerebral metabolism of glucose. Sturge-Weber syndrome (SWS) with unilateral involvement is a clinical model for evaluating the effects of early focal brain injury on brain metabolism and function. In this study, 2-deoxy-2[(18)F]fluoro-D-glucose (FDG) positron emission tomography (PET) was used to measure glucose metabolism in cortex and basal ganglia, both ipsilateral and contralateral to the angioma, in 17 children (eight males, nine females; age range 1y 8mo-10y 4mo; mean 5y 7mo [SD 2y 11mo]) with unilateral SWS and epilepsy. The PET findings were compared with those of a control group of 11 age-matched children (four males, seven females; age range 3y-10y 8mo; mean 6y [SD 2y 10mo]) with partial epilepsy but normal magnetic resonance imaging and PET scans. In the SWS group, visual and parietal cortex showed decreased glucose metabolism on the side of the angioma (p=0.001) but increased metabolism on the contralateral side (p=0.002). In particular, glucose metabolism was very high in contralateral visual cortex of childrenwith SWS, showing severe occipital hypometabolism on the side of the angioma. Eight children with visual field defect showed increased metabolism in the contralateral visual cortex (p=0.012). These findings indicate that early, severe unilateral cortical damage in SWS may induce increased glucose metabolism in the contralateral visual cortex, probably reflecting reorganization.

Patients with Sturge-Weber syndrome often present with seizures during the first year of life. Currently, only patients with clinically significant seizures who do not respond to medical treatment are candidates for early epileptic surgery. However, a delay of surgical treatment may result in cognitive deterioration. We studied the correlation between parameters and outcome of seizures to re-examine the criteria for early epilepsy surgery. We performed a retrospective chart review combined with telephone interviews of parents of all Israeli infants with unilateral Sturge-Weber syndrome and early onset seizures, and we examined whether age of seizure onset and seizure intensity were correlated with cognitive level and the degree of hemiparesis at follow-up. We recruited a total of 15 patients with unilateral Sturge-Weber syndrome and early onset seizures, five of whom underwent epilepsy surgery. The mean follow-up period of all the patients was 15 years: six patients had normal intelligence, four had borderline cognitive level, three had mild mental retardation and two had moderate mental retardation. Eight of the ten non-operated patients still experience seizures at follow-up. Cognitive delay was significantly correlated with seizure intensity in the early period, but not with the age of seizures onset, the degree of hemiparesis, or the presence of ongoing seizures. We conclude that high seizure intensity in young patients with Sturge-Weber syndrome is a prognostic marker for mental deterioration.

In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups.

Purpose To evaluate the outcomes following stereotactic radiation therapy of diffuse choroidal hemangioma related to Sturge-Weber syndrome (STW) and associated with secondary retinal detachment (RD) Methods Retrospective case series of STW patients with diffuse choroidal hemangioma associated with RD, that were treated with stereotactic radiation therapy. The technique consisted of applying 19.8–25.2 Gray in 10–14 fractions, at the posterior pole Results Between June 2001 and August 2013, 13 patients (M/F ratio: 6/7) with a median age of 8.5 years (range: 3.0–32.0 years) were irradiated. Before, five of them had been unsuccessfully treated with PDT, silicone oil or propranolol in an attempt to reattach the RD. Median visual acuity at baseline was reduced to HM (range: NPL-0.7) with a median tumor thickness of 4.4 mm (range: 3.1–7.2). During radiation treatment, one patient complained of minor, transient conjunctival irritation. Mean follow-up (FU) was 39 months (range: 0–141 months). Complete retinal reattachment was observed in 9 cases, partial retinal reattachment in 1 case (FU 3 months) and no response in 1 case (RD duration of 3 years).Two patients were lost to follow-up. Four patients received panretinal photocoagulation for retinal ischemia. At the last control examination, median visual acuity was 0.04 (range: NPL-0.8), mainly related to pre-existing amblyopia, secondary retinal changes or glaucoma-associated optic atrophy. Median tumor thickness was 2.0 mm (range: 1.3–2.5) Conclusions Stereotactic radiation therapy with 20–25 Gray is an efficient treatment for reapplying secondary RD in STW patients with diffuse choroidal hemangioma. No major complications were noted. However, visual outcomes remained poor, because of the complex ocular problems these young patients present, with often a delay in diagnosis and treatment.

Purpose To investigate physiological alterations in Sturge-Weber syndrome (SWS) using MR perfusion imaging (PWI) and proton spectroscopic imaging (MRSI), and their association with neurological status. Materials and Methods Six consecutive patients with a clinically established diagnosis of SWS underwent MRI using a 1.5 Tesla scanner. The protocol consisted of conventional anatomic scans, dynamic PWI, and multislice MRSI. A pediatric neurologist evaluated the neurological scores, and the imaging results were correlated with neurological scores using nonparametric correlation analysis. Results Two patients had classic neuroimaging findings of unilateral cerebral atrophy with corresponding leptomeningeal enhancement and hypoperfusion (prolonged mean transit time). Two patients had bilateral disease, and two had normal symmetric perfusion. Among clinical measures, the highest correlation was between hemiparesis index and hypoperfused tissue volume (Spearman's correlation coefficient, ρ = 0.943, P < 0.05). There was also a trend of correlation, although not statistically significant (P = 0.06), between the hemiparesis score and the NAA/Cr ratio in the mid to posterior centrum semiovale, lateral gray matter (GM), and splenium. Conclusion In SWS, PWI indicates cerebral hypoperfusion predominantly due to impaired venous drainage, with only the most severely affected regions in some patients also showing arterial perfusion deficiency. The extent and severity of the perfusion abnormality and neuronal loss/dysfunction reflect the severity of neurological symptoms and disability, and the highest correlation is found with the degree of hemiparesis. These parameters may be useful as quantitative measures of disease burden; however, further studies in larger number of patients (and with a more homogeneous age range) are required to confirm the preliminary findings reported here. J. Magn. Reson. Imaging 2006. © 2006 Wiley-Liss, Inc.

Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence of epilepsy of 78%, the majority presenting under the age of 12 months, with a high association between the occurrence of seizures and the presence of learning disability. Although an apparent multifocal disease, surgery may have a role to play where seizures are demonstrated to probably arise from a single tuber. Other less common neurocutaneous syndromes also have a high prevalence of epilepsy in association with cerebral malformations; unilateral or lobar malformations should be referred early for surgical consideration. Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low; in addition, a greater proportion may be easier to treat with medication.

Summary. Sturge–Weber syndrome is a congenital disorder characterized by vascular facial birthmarks and neurological abnormalities. Oral cavity involvement may occur, and the extent of the vascular abnormality may vary considerably. The present authors report the case of a 6-year-old girl with Sturge–Weber syndrome, focusing on the clinical and radiographic features. Her dental management involved a multidisciplinary team and included orthodontic treatment using removable appliances.

Sturge-Weber syndrome is a neurocutaneous syndrome characterised by facial port wine stain, ipsilateral leptomeningeal angioma and vascular eye abnormalities. We report a rare case of Sturge-Weber syndrome without facial nevus presenting with neonatal seizures.

Purpose To provide an in-depth re-examination of assumed causes of tissue hypertrophy, port-wine stains and the Sturge-Weber and related syndromes to support an alternative unifying pathophysiologic mechanism of venous dysplasia producing focal venous hypertension with attendant tissue responses and to propose a novel etiological hypothesis for the venous dysplasia in these syndromes with supportive evidence. Methods Data from twenty patients with port-wine stains was collected prospectively by the author in an institutional referral-based practice. The literature was searched using Medline. Results Newly obtained dermatologic, corneal pachymetry, fundus ophthalmoscopic, ocular and orbital venous Doppler ultrasonography, and magnetic resonance imaging findings in patients with the Sturge-Weber syndrome or isolated port-wine stains, along with published data, reveal diffusely thickened tissues and neural atrophy in all areas associated with venous congestion. Conclusion Contrary to traditional understanding, signs and symptoms in the Sturge-Weber and related syndromes, including both congenital and acquired port-wine stains are shown to arise from effects of localized primary venous dysplasia or acquired venous obstruction rather than neural dysfunction, differentiating these syndromes from actual phacomatoses. Effects of focal venous hypertension are transmitted to nearby areas via compensatory collateral venous channels in the above conditions. Conclusion: A novel underlying etiology—prenatal venous thrombo-occlusion—may be responsible for the absence of veins with persistence and enlargement of collateral circulatory pathways with data in the literature backing this offshoot hypothesis. The mechanism for isolated pathologic tissue

We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascularis type IIb, Sturge-Weber syndrome and Klippel-Trenaunay syndrome in the English language literature.

Epilepsy presenting early in childhood may be associated with a neurologically devastating clinical course and have significant implications for the child's development. There are limited published data regarding the clinicopathological features of patients who have undergone epilepsy surgery in the first year of life and the role such surgery may have in reducing seizure frequency. This study retrospectively reviews the clinicopathologic features of eight patients from a tertiary care setting who underwent surgery for epilepsy in the first year of life. Eight infants, including seven males and one female, underwent surgery for epilepsy at 3-11 months of age (median 7.5 months). Age at the time of seizure onset ranged from birth to 2 months. Epileptogenic foci were localized by electroencephalographic and radiographic studies to the right side in five patients and left side in three patients. Histopathological findings in excised tissues included cortical dysplasia (n = 7), hemimegalencephaly (n = 3), and Sturge-Weber syndrome (n = 1). Dysplasia was marked by abnormalities in cortical lamination and neuronal orientation (n = 7), neuronal cytomegaly (n = 6), increased molecular layer neurons (n = 5) and balloon cells (n = 2). One patient was known to have epidermal nevus syndrome. Two patients required additional surgery for continued seizures. At last known follow up, all but one patient, who died in the postoperative period, were alive with no or decreased seizures at postoperative intervals of 3-60 months (median 13 months). Surgery can potentially ameliorate epilepsy in patients less than 1 year of age. Most of the patients in this series had cortical dysplasia as the underlying pathology of their epilepsy.

BACKGROUND Li-Fraumeni syndrome (LFS) is characterized by a plethora of cancers, most prominent of which is carcinoma of the breast followed by sarcomas, brain tumors, leukemia, lymphoma, lung carcinoma, and adrenocortical carcinoma (therefore, also referred to by the acronym SBLA syndrome). METHODS The family reported herein was first described 2 decades ago. Now extensive follow-up has shown the predictable occurrence of these tumor types, in addition to an excess of brain tumors and the finding of Sturge-Weber syndrome (SWS) in an LFS-affected family member. RESULTS A possible new feature of the disorder, suggestive of SWS, was identified in a patient in the direct genetic lineage. This patient had a rhabdomyosarcoma of the eyelid at age 29 months and at age 14 years was diagnosed with lymphoblastic lymphoma/acute lymphoblastic leukemia. A remarkable excess of brain tumors was identified in this family through this current update. The p53 germ-line mutation was not identified in any affected member of this family. CONCLUSIONS To the authors' knowledge, this is the first example of SWS in the context of LFS. Brain tumors appear to be an important component of the tumor spectrum of LFS, as evidenced in this family. Cancer 2000;88:433–39. © 2000 American Cancer Society.

The aim of this study was to examine the haemodynamic response to seizures in three infants with Sturge-Weber syndrome by measuring regional cerebral blood flow using transcranial Doppler sonography and 99mTc HMPAO SPECT. Time-locked video/digital EEG recording was carried out for ictal studies. MRI was performed in all subjects. SPECT showed hemispheric hypoperfusion interictally in all three patients and also ictally in one of the three; a small region of hyperperfusion was seen on the same ictal scan in the latter, ie. the patient with interictal and ictal hypoperfusion. In the two older children middle cerebral artery velocity (MCAV) was reduced by between 29 and 62% in the middle cerebral artery of the predominantly affected hemisphere compared with the contralateral side. During seizures, increases of 6 to 30% in MCAV were recorded for the clinically seizing hemisphere compared with 24 to 170% for the contralateral side in four of the seizures recorded. In one infant, MCAV fell bilaterally during a seizure that generalized (-18 and -43% in the predominantly affected and contralateral side respectively). Sequential recordings in one infant suggested that, with time, the haemodynamic response to seizures of the unaffected hemisphere may decrease. These findings suggest that the venous malformation in SWS is associated with an impairment of the cerebral haemodynamic response to seizure activity.

UNLABELLED Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized predominantly by cutaneous vascular malformations and pigmentary naevi. The most frequently reported form, Type II b, is associated with systemic involvement. Sturge-Weber Syndrome (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic renal anomalies. CONCLUSION We report the first case of PPV associated with SWS and naevus of Ota presenting with malignant hypertension secondary to bilateral renal artery stenosis. This case raises the possibility that the phakomatoses are not distinct entities but a spectrum of overlapping neurocutaneous, vascular and renal features.