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Parkes Weber syndrome (PWS) is a rare and congenital vascular malformation manifesting as hemihypertrophy of the extremities, cutaneous hemangiomas, varicose veins, and arteriovenous fistula of the affected limbs. The incidence rate of spinal arteriovenous fistula (AVF) associated with PWS is extremely rare. We reported a case of an adolescent girl with PWS who presented with a rupture spinal perimedullary AVF at the level of T12-L1. She was successfully treated with emergent surgical decompression and subsequent endovascular embolization. The clinical features and treatment of spinal AVF associated with PWS were discussed and a brief literature review was presented. Based on this case report, we suggested that the management of spinal AVF in PWS should also be individualized and be tailored according to the condition and expectation of the patients as well as the angioarchitecture of the vascular malformation.

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder. SWS is the most commonly described as a ‘triad’ of a facial port-wine naevus in the trigeminal nerve ophthalmic distribution, leptomeningeal angiomatosis and glaucoma. Renal infarcts have not previously been described in patients with SWS. The association behind SWS and renal infarcts is unclear, however, may be a result of the same cerebrovascular malformations occurring in the renal vasculature. We report on a patient with known SWS presenting with a first episode of frank haematuria, subsequently found to be a result of a renal infarct with preserved kidney function. This proposes new challenges in the investigation and management of comorbidities associated with SWS, most notably with regard to the use of radiological imaging and anticoagulation in younger patients.

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.

The aim of this study was to evaluate the effect of changing the contrast of an analyzed image on the accuracy of intracranial volume (ICV) extraction using the Brain Extraction Tool (BET2) in healthy adults and patients with Sturge-Weber syndrome (SWS), including infants. Twelve SWS patients, including infants, and 12 healthy participants were imaged on a 3.0-T magnetic resonance imaging (MRI) machine. All individuals underwent quantification of relaxation times and proton density using multi-echo acquisition of saturation recovery with turbo-spin-echo readout (QRAPMASTER). Based on the QRAPMASTER data, we created images with seven contrasts (T1-WI, T2-WI, PD-WI, T2 short-tau inversion recovery [STIR], proton density [PD] STIR, T2STIR + PDSTIR, and T1-WI + T2-WI + PD-WI) by post-processing with SyMRI software. ICVs extracted with BET2 from the FMRIB (Functional Magnetic Resonance Imaging of the Brain) Software Library with each of the seven image contrasts were compared with manually extracted ICVs, which is the gold standard reviewed by a board-certificated neuroradiologist. Manual extraction was performed on T1-WI and T2STIR. Statistical analyses were performed with Jaccard similarity coefficients (J). The highest J score was found in T1-WI + T2-WI + PD-WI in all participants (0.8451); T1-WI in healthy participants (0.8984); T2STIR in participants with SWS (0.8325). Our findings suggest that T1-WI and T2STIR should be used in ICV extraction performed using BET2 on healthy participants and infants, respectively. Additionally, if the analyzed individuals include both healthy participants and infants, T1-WI + T2-WI + PD-WI should be used.

PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS).Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies.

Enlargement of deep cerebral veins and choroid plexus engorgement are frequently reported in Sturge–Weber syndrome. We aim to describe cavernous sinus involvement in patients with this syndrome and to identify possible clinical-neuroimaging correlations. Sixty patients with Sturge–Weber syndrome (31 females, mean age 4.5 years) and 120 age/sex-matched controls were included in this retrospective study. We performed a visual analysis to identify patients with asymmetric cavernous sinus enlargement. Then, we measured on axial T2WI the left (A), right (B), and bilateral (LL) transverse diameters of the cavernous sinus. We calculated the module of the difference |A-B| and the cavernous sinus asymmetry index as the ratio |A-B|/LL. Differences among groups were assessed by Mann–Whitney U and Kruskal–Wallis tests. Clinicoradiological associations were evaluated by Fisher exact test. We found seven subjects (11.6%) with asymmetric CS enlargement. The |A-B| and cavernous sinus asymmetry index were higher in patients with asymmetric CS enlargement compared with controls and patients without visible CS abnormalities (pB

Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

Background Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS with isolated leptomeningeal angiomatosis has never been reported to our knowledge. Case presentation We report here a case of an isolated temporo-parieto-occipital leptomeningeal angiomatosis on the right cerebral hemisphere in a sixty-two-year-old male who presented with generalized seizure, GCS score 14/15 (E4 V4 M6) with equal and reacting pupils, psychomotor slowing, left hemineglect and grade 4 power in the left upper and lower limbs. Over a period of 48 h his neurological status deteriorated, but recovered spontaneously over a week on titration with anticonvulsants. He had a prior history of treatment for focal leptomeningitis, three years ago. Cerebrospinal fluid (CSF) analysis showed glucose of 75 mg/dL, proteins of 65 mg/dL and culture grew no organisms. On follow-up, he had intermittent episodes of focal seizure for two years. Initial, computed tomography of brain showed hyperdense lesion in the parieto-occipital convexity subarachnoid space on the right cerebral hemisphere mimicking subarachnoid hemorrhage and computed tomography angiography showed no significant abnormality. Magnetic resonance imaging (MRI) of brain showed intense pial enhancement in the right temporo-parieto-occipital region with a subtle T2W hyperintense signal in the underlying subcortical white matter without edema or infarct or mass effect. Digital subtraction cerebral angiography (DSA) showed hypertrophy of the cerebral arteries, arteriolo-capillary bed and venules in the right temporo-parieto-occipital territory associated with early arterio-capillary and venous opacification. Serial MRI done after six months, one and two years showed increase in the T2W hyperintense signal in the subcortical white matter and cortical atrophy with no changes in the pial enhancement. MR perfusion imaging showed reduced cerebral blood flow (CBF) and cerebral blood volume (CBV) in the right parieto-temporo-occipital cortical and subcortical regions and increased perfusion in the leptomeninges with reduction of the NAA / Cr ratios in spectroscopy. Conclusion Conglomeration of various radiological findings in MRI, Perfusion, MRS and DSA with the clinical presentation can aid in establishing the diagnosis of this rare presentation of SWS-type 3 variant in late adulthood.

Glaukome, bedingt durch einen erhohten episkleralen Venendruck, stellen eine seltene, schwer therapierbare Form der sekundaren Offenwinkelglaukome dar. Pathogenese, Klinik, Differenzialdiagnosen und Therapie werden erlautert, wobei gesondert auf das Radius-Maumenee-Syndrom, das Sturge-Weber-Syndrom und die differenzialdiagnostisch bedeutsamen Karotis-Sinus-cavernosus-Fisteln eingegangen wird. Es erfolgte eine Literaturrecherche uber PubMed. Im Zuge der Abklarung mussen potenziell bedrohliche Erkrankungen wie eine Karotis-Sinus-cavernosus-Fistel ausgeschlossen werden. Die Therapie basiert auf der Behandlung der Grunderkrankung. Eine medikamentose Drucksenkung ist oft nicht ausreichend moglich. Im Falle eines operativen Eingriffs muss das erhohte Risiko schwerer Komplikationen berucksichtigt werden. In der Literatur wurden in kleinen Fallzahlen unterschiedliche operative Techniken beschrieben. Glaukome, bedingt durch einen erhohten episkleralen Venendruck, konnen idiopathisch oder sekundar im Rahmen anderer Erkrankungen auftreten. Trotz ihrer Seltenheit sollte diese Genese eines Glaukoms immer differenzialdiagnostisch bedacht werden. Die Therapie stellt aufgrund der erhohten Komplikationsrisiken eine Herausforderung dar.

Cerebral hemiatrophy is an uncommon neuroimaging finding of diverse etiologies, conventionally classified into two broad categories: congenital and acquired. The authors propose an alternative pragmatic clinical approach to cerebral hemiatrophy, classifying its diverse etiologies into a single event insult such as an in utero stroke, or a progressive disorder from an inflammatory or neoplastic process, the latter of which needs urgent intervention and will be the focus of our review paper. Illustrative cases will also be presented to facilitate the understanding of the discussed disorders. A systematic approach, linking both clinical and neuroimaging features, is important to facilitate the diagnostic workup of cerebral hemiatrophy. This may potentially help avoid large-scale investigations. Determining the underlying aetiology of cerebral hemiatrophy may impact treatment and prognostication as some conditions such as Rasmussen encephalitis and Parry-Romberg syndrome may benefit from timely implementation of immunomodulatory therapy.

Phakomatosen sind eine heterogene und unscharf definierte Gruppe von Krankheiten, die sowohl das Nervensystem als auch die Haut betreffen. Die tuberose Sklerose, die Neurofibromatose Typ 1 und 2, das Sturge-Weber-Syndrom und der Morbus Hippel-Lindau (VHL-Syndrom) sind Entitaten mit in der Regel typischen Befunden in der neuroradiologischen Bildgebung. Mit Hilfe der Magnetresonanztomographie (MRT) konnen die typischen Befunde dieser Entitaten meist sicher identifiziert werden, so dass die Diagnostik dieser Krankheiten vereinfacht werden kann.

Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p.R183Q somatic activating mutation in the guanine nucleotide-binding protein alpha-q (GNAQ) gene) was identified. This mutation increases downstream signaling along the RAS/MAPK pathway, resulting in increased cell proliferation. The interaction between FGFR and the RAS/MAPK signaling pathway was proposed in recent years. Elevated synthesis of fibronectin in the calvaria of patients with Apert syndrome and increased fibronectin gene expression in port wine-derived fibroblasts of patients with Sturge-Weber disease have also been reported. We report a unique case of Apert and Sturge-Weber syndromes occurring in the same patient. The child was noted to demonstrate features suggestive of Apert syndrome at birth, including brachycephaly, midface hypoplasia, and syndactyly. In addition, a left-sided facial port wine stain in the forehead was noted. Magnetic resonance imaging (MRI) of the brain was performed and confirmed the diagnosis of Sturge-Weber syndrome by demonstrating the presence of left sided leptomeningeal vascular capillary malformation and left-sided cerebral hemiatrophy. To the best of our knowledge, there has been no prior described case of Apert and Sturge-Weber syndromes occurring in the same patient. This case report identifies an area of potential research on fibronectin and derangement of the RAS/MAPK signaling pathway in relation to Apert syndrome and Sturge-Weber syndrome. In view of the rare concurrence of Apert and Sturge-Weber syndromes, the underlying pathogenesis is thought to be multifactorial, one of which may be related to either increased fibronectin gene expression or derangement of the RAS/MAPK signaling pathway.

PURPOSE: The Sturge–Weber Syndrome (SWS) is a phacomatosis which include facial nevus flammeus, glaucoma, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis. External beam radiotherapy (EBRT) using photons was used to treat retinal detachment. We investigate the anatomical and functional results in a long-term basis. METHODS: Retrospective review of SWS patients treated by EBRT (20 Gy in 10 fractions) for an exudative diffuse choroidal hemangioma. Visual acuity, B-scan tumor thickness, size of retinal detachment, intra-ocular pressure, and hypotonic treatment were collected before EBRT, 1 year after, and at the latest news. RESULTS: Twenty-five patients (26 eyes) were treated between 2001 and 2014. Retinal detachment including the macula was found among twenty-six eyes before treatment. The average follow-up time was 47 months. The mean tumor thickness was initially 4.5 mm, 2.8 mm at first year, and 2.7 mm at the last visit. The retina was reattached at the last visit for all eyes except two. The visual acuity was stable or better for 20 eyes (p = 0.02). Four patients developed mild cataract during the follow-up. CONCLUSION: EBRT using 20 Gy in 10 fractions is efficient, decreases tumor thickness, reattaches the retina, and stabilizes visual acuity. In the long term, retinal reattachment allows ocular conservation by preventing phthisis bulbi.

The goal of this paper is to discuss recent developments in the diagnosis, neuroimaging, and treatment of Sturge-Weber Syndrome. Diagnosis and treatment in Sturge-Weber syndrome is evolving in the context of the recent discovery of the underlying somatic mutation in G protein subunit alpha q (GNAQ), development of novel neuroimaging techniques, as well as new multi-centered clinical trials. Sturge-Weber Syndrome is a rare, non-familial disorder that is typically characterized by the association of a facial capillary malformation with a leptomeningeal angioma of the brain and/or eye. This review will summarize the latest progress in Sturge-Weber syndrome clinical care and highlight areas of current controversy and need for future research.

Vaskulare Malformationen sind angeborene Gefasanomalien mit einem normalen endothelialen Umsatz, die im ganzen Gefassystem (arteriell, kapillar oder lymphatisch) sowohl als isolierte Defekte als auch als Teil eines Syndroms vorkommen konnen. Entwicklungsfehler wahrend der Embryogenese, wie abnormale Signalisierungsprozesse, die Apoptose, Reifung und Wachstum der Gefaszellen kontrollieren, fuhren zu einer Persistenz vaskularer Plexuszellen mit einem gewissen Grad an Differenzierung. Die vaskularen Malformationen sind in der Regel bei Geburt vorhanden, obwohl sich Symptome oder Komplikationen erst spater manifestieren konnen. Da die uberwiegende Mehrheit symptomatisch wird, ist eine Behandlung indiziert, deren Ziel oft nur die Verbesserung der Symptome durch die Kontrolle der Grose ist.

The most common phacomatoses in children that need surgical attention are neurofibromatosis 1 and 2, tuberous sclerosis complex, Sturge-Weber disease, Von Hippel-Lindau disease, and neurocutaneous melanocytosis. All are rare and, as genetically determined disorders, all complex multisystem diseases with multiple manifestations outside the CNS. Diagnostics, management recommendations, and surgical care are age-specific and require individualization. The lifelong multidimensional disease burden demands a multidisciplinary and well-coordinated management approach. The consequence of these boundary conditions is that management of children with a phacomatosis is everything else but simple, straight forward, and intuitive. This Special Annual Issue is designed to serve as an up-to-date encyclopedic reference for all aspects of management of phacomatoses in the pediatric age group.

The phakomatoses are disorders characterized by multiple hamartomas and other congenital malformations affecting mainly the skin and the central and peripheral nervous systems. Many affected individuals have an increased genetic susceptibility to develop malignancies. Imaging is central in the diagnosis of many of the phakomatoses, and MRI is used as a screening tool in many children with known neurocutaneous disorders. This manuscript addresses the three most common (neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome) and focuses on pathophysiological and radiologic insights that have emerged in the last few years.

Hemispherectomy and disconnective hemispherotomy are the most effective epilepsy surgical procedures for the treatment of epilepsy due to hemispheric pathologies such as Sturge-Weber syndrome, diffuse hemispheric cortical dysplasia, and posttraumatic and postischemic focal lesions. Disconnective hemispherotomy is nowadays preferred to reduce surgical morbidity in term of early and late complications (i.e., cerebral superficial hemosiderosis). Despite the number of existing technical variants conceived to further reduce the amount of brain tissue to be removed, postoperative hydrocephalus still persists and may account for an average incidence of 15–41 % according to different series and reviews. A new variant of disconnective vertical hemispherotomy we termed vertical extraventricular parasagittal hemispherotomy is described aiming to further reduce the amount of removed brain tissue and so the risk of postoperative hydrocephalus in favor of a pure hemispheric disconnection. Three patients affected by drug-resistant epilepsy due to different hemispheric pathologies (posttraumatic epilepsy, Sturge-Weber syndrome, diffuse hemispheric cortical dysplasia) were considered to be candidates for vertical extraventricular parasagittal hemispherotomy disconnective based on presurgical evaluation protocol. The oldest patient was 15 years old, the two youngest were both 2 years old. None of the patients experienced early and late surgical complications. After a mean follow-up of 36 months (range 12–60 months), two patients were seizure free, one relapsed seizures 18 months later. Postoperative hydrocephalus never occurred. Vertical extraventricular parasagittal hemispherotomy may be an efficacious and less invasive technique as it consists in a pure disconnection of the hemisphere with less amount of brain tissue removed and a theoretical reduced risk of postoperative hydrocephalus.

Sturge-Weber syndrome (SWS) is a sporadic phakomatosis with variable intracranial involvement. Port-wine stain, choroidal angioma, and leptomeningeal angiomatosis typify the full disease spectrum. Disease manifestations generally evolve toward cerebral hemiatrophy and compensatory hemicalvarial enlargement. However, recognizable imaging correlates may be lacking early on. We have observed SWS-related marrow signal changes to be prevalent in patients of all ages. The purpose of this study is to evaluate bone marrow abnormalities in patients with Sturge-Weber syndrome.The MR imaging database at an academic children's hospital was queried for "Sturge-Weber" to build a cohort for retrospective analysis. Two board-certified neuroradiologists reviewed MR exams for abnormalities of the bone marrow, globes, susceptibility, and perfusion. A two-tailed Fisher's exact test was applied to evaluate the association between variables.Twenty brain MR exams from 19 SWS patients, mean age 4.8 +/- 5.8 years (range 6 months-16 years), met the inclusion criteria. All patients with port-wine stains (18/20) had leptomeningeal enhancement, marrow T2 prolongation, and/or marrow enhancement ipsilaterally. Leptomeningeal enhancement was only present in 53%. Eighty percent had unilateral bone marrow abnormalities. In 37% (all5 years), marrow abnormalities occurred without leptomeningeal angiomatosis. Thirty-five percent had facial bones involvement; 75% of these had ipsilateral choroidal angiomas.Bone marrow signal abnormality and enhancement is common ipsilateral to the nevus flammeus in SWS. As this may be the sole brain MR abnormality in some patients, it may reflect mild phenotypes or an early disease manifestation, and could help stratify patients for early intervention.

Droplet digital PCR (ddPCR), a method for measuring target nucleic acid sequence quantity, is useful for determining somatic mutation rates using TaqMan probes. In this study, the detection limit of copy numbers of test DNA by ddPCR was determined based on Poisson distribution. Peptide nucleic acid (PNA), which strongly hybridises to target lesions, can inhibit target amplification by PCR. Therefore, by combination of PCR with PNA and ddPCR (PNA-ddPCR), the detection limit could be lowered. We reanalysed a somatic GNAQ mutation (c.548G A) in patients with Sturge-Weber syndrome (SWS) using ddPCR and PNA-ddPCR. Importantly, among three patients previously found to be mutation negative by next-generation sequencing, two patients had the GNAQ mutation with a mutant allele frequency of less than 1%. Furthermore, we were able to find the same mutation in blood leukocyte or saliva DNA derived from four out of 40 SWS patients. Vascular anomalies and blood leukocytes originate from endothelial cells and haemangioblasts, respectively, which are both of mesodermal origin. Therefore, blood leukocytes may harbour the GNAQ mutation, depending on the time when the somatic mutation is acquired. These data suggest the possibility of diagnosis using blood DNA in some patients with SWS.

A case of prenatal diagnosis of Sturge-Weber syndrome associated with polymicrogyria is reported. The diagnosis was based on a unique association with unilateral hemispheric gyriform calcification, focal hemispheric atrophy and white matter changes on prenatal imaging including ultrasound and MRI. Polymicrogyria, which is exceptionally associated with Sturge-Weber syndrome, is suggestive of and reinforces the hypothesis of early impairment of the cerebral microvasculature related to leptomeningeal angioma, which may lead to abnormal cerebral development as early as the second trimester of pregnancy.

Introduction Sturge–Weber syndrome (SWS) is a rare congenital disease that affects the brain, skin, and eyes, and is a sporadically occurring neurocutaneous syndrome that affects intracerebral veins, which is associated with venous thrombosis. However, intracranial hemorrhage in patients with SWS is rare. We herein report a rare case of SWS with intracerebral hemorrhage derived from sinus thrombosis. Case description A 62-year-old man suddenly fell into a coma and was admitted to our hospital. His neurological status was assessed as GCS 6 (E1V1M4) with right-sided hemiparesis. At birth, he had a right-sided facial port-wine stain typical of SWS that involved the ophthalmic division of the trigeminal nerve. Laboratory findings showed that he was dehydrated, and his serum D-dimer concentration was increased. Computed tomography revealed left thalamic hemorrhage with acute hydrocephalus and cortical calcification in the right occipital lobe. Magnetic resonance imaging displayed a vascular malformation of the right cerebral hemisphere consistent with SWS. Magnetic resonance venography showed steno-occlusion of the superior sagittal sinus, straight sinus, and left internal cerebral vein (ICV). Emergency ventricular drainage was performed. Seven days after surgery, his consciousness improved to GCS 14 (E4V4M6). Rehydration therapy was performed to prevent sinus thrombosis. Discussion and Evaluation His postoperative course was uneventful. Sudden congestion of the left ICV may have caused left thalamic hemorrhage. Conclusions SWS with major sinus occlusion needs to be diagnosed with utmost caution in order to allow for preoperative neurological and radiological assessments.

Introduction The authors here present a rare case of a 3-month-old infant with unilateral Sturge-Weber syndrome (SWS) who had excellent seizure control and no aggravation of previous existed neurological deficits after vertical parasagittal hemispherotomy (VPH). To our knowledge, this patient with SWS was the youngest one who received VPH. Case description The use of VPH results in a successful treatment of intractable epilepsy in a patient with seizure onset in early infancy. At follow-up, the patient’s neurodevelopmental status has been improved since the surgery. Discussion It is generally accepted that early-onset seizures in children with SWS are associated with worse neurological and developmental outcomes. However, when surgical treatment should be considered and how it should be performed remain a longstanding controversy. We promote early surgery in children with SWS and early-onset epilepsy. Conclusion We suggest that VPH may be a useful adjuvant in the management of SWS with refractory epilepsy in early infancy and this procedure carries low neurological risk.

Sturge–Weber syndrome (SWS) is a congenital, nonfamilial neurocutaneous syndrome typically presenting with a facial port-wine stain within the trigeminal nerve distribution and ipsilateral leptomeningeal angiomatosis [1–5]. An arteriovenous malformation (AVM) is not an essential component of SWS, particularly if the above features are lacking [6]. An AVM may have similarities in common with a leptomeningeal angiomatosis especially when a fetal developmental error occurs within venous or capillary beds [7]. For this reason, an AVM can be regarded as another component of SWS and, in broader sense, may be defined as atypical SWS. We report a rare case of a 10-year-old boy with two AVMs and a facial port-wine nevus of the ipsilateral side. On the basis of the patient’s clinical and radiological features as well as a literature review, we carefully made a diagnosis of SWS in this patient.

A 5-year-old girl with cutis marmorata telangiectasia congenita (CMTC) and congenital glaucoma, who had previously presented with seizures, transient hemiplegia, upper gastrointestinal bleeding and hemihypertrophy, developed a large pleural effusion. Subsequent imaging revealed renal lymphangiomatosis, multiple anomalous intra-abdominal venous channels, an interrupted inferior vena cava with a persistent primitive hepatic venous plexus (PPHVP) and meningeal angiomas. To the best of our knowledge, the CT findings of PPHVP and the combination of the demonstrated abnormalities have not been previously reported. They may represent an overlap syndrome of CMTC, Sturge-Weber syndrome and Klippel-Trenaunay syndrome. The complexity and degree of overlap highlights the importance of an accurate clinical and anatomical description and good communication among clinicians.

White matter (WM) loss is associated with cognitive impairment in Sturge-Weber syndrome (SWS). In this study, we evaluated if cognitive and fine motor abnormalities are associated with impaired microstructural integrity in specific WM regions in SWS. Fifteen children with unilateral SWS (age: 3-12.4 y) and 11 controls (age: 6-12.8 y) underwent diffusion tensor imaging. Tract-based spatial statistics was used for objective comparisons of WM fractional anisotropy (FA) and mean diffusivity (MD) between the two groups. In the SWS group, WM FA and MD values were correlated with intelligence quotient (IQ) and fine motor scores, with age as a co-variate. Bilateral, multilobar WM areas showed decreased FA, whereas significant MD increases were confined to small ipsilateral posterior regions in SWS children. IQ in the SWS group (range: 47-128) was positively correlated with FA in the ipsilateral prefrontal WM and inversely associated with MD in the ipsilateral posterior parietal WM. A negative correlation between fine motor function and MD was found in ipsilateral frontal WM encompassing motor pathways. Microstructural WM abnormalities occur not only ipsilateral but also contralateral to the angioma in unilateral SWS. Nevertheless, cognitive and fine motor functions are related to diffusion abnormalities in specific ipsilateral, mostly frontal, WM regions.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.

At terminal stage, Sturge–Weber syndrome (SWS) can lead to choroidal calcification due to local chronic ischemia caused by congenital vascular malformation. We report a 51-year-old male with known SWS, who presented to the University of Salzburg eye clinic with chronic pain in the left eye. Upon examination, endophthalmitis, total retinal detachment, and complete loss of vision were diagnosed. Enucleation was performed due to the progression of the disease. During the procedure, ossification of the choroid was seen macroscopically. Histological examination revealed lamellar bone with yellow bone marrow.

There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome. PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an “S” for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe. The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others. This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research.

INTRODUCTION: The prevalence and outcome of the most frequent type of epilepsy in infancy-infantile spasms (IS)-are well characterized in the setting of most neurocutaneous disorders. By contrast, still there is no study describing the natural history of IS in the setting of Sturge-Weber syndrome (SWS). MATERIALS AND METHODS: Two patients with SWS and IS were identified in our series and five in the literature. The aim of study is to evaluate the clinical, electroencephalographic (EEG) and imaging features of our cases and to compare our cases with those described in the literature. IS in the setting of SWS is an uncommon but possible event (2/19 patients seen over 13 years in our institutions). RESULTS: We confirmed the correlation between IS and severity of SWS cutaneous and neural (extension of leptomeningeal capillary malformation) phenotype. IS in SWS seems to be atypical both from a clinical viewpoint (they are asymmetric) and from a laboratory viewpoint (EEG is not classically hypsarrhythmic).

To evaluate the safety and efficacy of primary single-plate Molteno tube implantation in the management of childhood glaucoma associated with Sturge-Weber syndrome.Nine eyes of seven patients were included in this prospective case series. Success was defined as intraocular pressure (IOP)or =22 mmHg with (relative success) or without (absolute success) glaucoma medications. Intra- and postoperative complications were also evaluated.Mean age at the time of the surgery was 9.6 +/- 3.7 years (range: 5-17 years) and mean follow-up duration was 32 +/- 4.7 months (range: 20-36 months). Mean IOP was reduced from 34.2 +/- 8.3 mmHg preoperatively to 21.2 +/- 7.3 mmHg at the final follow-up (P = 0.012). The number of anti-glaucoma medications was reduced from 3.4 +/- 0.5 preoperatively to 2.2 +/- 1.3 at the final follow-up (P = 0.058). The cumulative probability of relative success was 97.2% [95% confidence interval (CI): 91.85-100%] at 12 months, 78.02% (95% CI: 60.36-95.67%) at 24 months and 43.34% (95% CI: 16.18-70.5%) at the final follow-up. During the first 6 months after surgery, two patients had controlled IOP without the use of medications (absolute success); however, 6 months and later no eye had achieved absolute success. There were no intraoperative complications. Postoperative complications included choroidal effusion necessitating drainage in three eyes (33.3%), cataract formation in one eye (11%) and retinal detachment in one eye (11%). At the final follow-up, visual acuity was unchanged from preoperative values in five eyes (55.5%); no eye demonstrated visual improvement.Outcomes of this small case study reveal that primary single-plate Molteno tube implantation appears to be associated with a limited success rate and a relatively high complication rate in eyes of children with glaucoma resulting from Sturge-Weber syndrome.

Mit dieser Studie wurden die fruhen Veranderungen des Sturge-Weber-Syndroms im MRT, CT und Ultraschall verglichen und im zeitlichen Verlauf ausgewertet. Von 1996–2005 wurden bei 6 Kindern mit Sturge-Weber-Syndrom 15 bildgebende Untersuchungen des Gehirns ausgewertet. Es konnten 4 Ultraschall-, 5 CT- und 6 MRT-Untersuchungen analysiert werden. Mit der Sonographie kann eine periventrikulare Echogenitatserhohung dokumentiert werden. Die MRT ist die beste Methode, um eine einseitige vaskulare Malformation darzustellen. Einseitige Echogenitatserhohungen bei Kindern mit einem Naevus flammeus konnen fruhe Zeichen einer vaskularen Malformation bei Sturge-Weber-Syndrom sein. Die MRT ist die beste Methode, um das Sturge-Weber-Syndrom abzuklaren und eignet sich fur Verlaufskontrollen, falls eine Anderung des neurologischen Befundes auftritt.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75-90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery.Children with SWS and drug-resistant epilepsy are optimal candidates for disconnective or resective surgical procedures in terms of both seizure control and intellectual outcomes. Controversies, however, still exist between the advantages of early "prophylactic" operation vs later surgical interventions. Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet.Visually guided lobectomy with complete excision of the angiomatous cortex should be considered as the primary surgical procedure in patients with focal lesions. Hemispherectomy is the treatment of choice in children with extensive hemispheric lesions.

Sturge-Weber syndrome (SWS) is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Typical imaging findings using MRI or CT are superficial cerebral calcification, atrophy and leptomeningeal enhancement. We present a neonate diagnosed with SWS because of a port-wine stain. In the absence of neurological symptoms the first MRI was performed when he was 4 months old, and follow-up MRI studies were performed after his first seizure at the age of 12 months. MRI was performed using standard sequences before and after administration of IV gadolinium. A high-resolution T2*-weighted, rf-spoiled 3D gradient-echo sequence with first-order flow compensation in all three directions was used for additional venographic imaging [blood-oxygen-level-dependent (BOLD) venography]. The initial conventional MRI sequences did not demonstrate any abnormality, but BOLD venography identified leptomeningeal internal veins. Follow-up MRI after the first onset of seizures demonstrated strong leptomeningeal enhancement, while BOLD venography revealed pathological medullary and subependymal veins as well as deep venous structures. At this time there were the first signs of atrophy and CT showed marginal calcifications. This report demonstrates that high-resolution BOLD MR venography allows early diagnosis of venous anomalies in SWS, making early therapeutic intervention possible.

We present a case of Sturge-Weber syndrome with a bilateral lymphatic/venous malformation of the mandible. Modern biology suggests an explanation for such a case. The classification of cerebrofacial venous metameric syndromes (CVMS) enables us to recognise this lesion as involving the most caudal of the cranial metamere (CVMS 3).

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that is typically associated with progressive neurological deterioration. We describe a 12-year-old girl with SWS who suffered a permanent cerebral insult as the result of a period of protracted status epilepticus. The case illustrates the unique susceptibility of patients with SWS to uncontrolled venous hypertension and emphasises the need for optimal seizure control and preservation of venous outflow. We discuss the relevance of our observations to haemodynamic concepts of neurological decline in SWS.

A 5-day-old male infant with leptomeningeal angiomatosis accompanied by hair follicle nevus and congenital alopecia is reported. Admitted for frequent left hemiconvulsions, he had three small papular lesions around his right eye and ipsilateral alopecia from the frontal to parietal areas. Histopathological examination of the papular lesions revealed crowding of hair follicles. There were no other skin lesions and no ophthalmic abnormalities. Ictal EEG showed a theta burst in the right parietal area. Computed tomography of the brain revealed cerebral atrophy and a slightly high intensity lesion in the right parietal and occipital lobes with calcification. Gyriform enhancement was demonstrated by contrast MRI in these areas. The pathogenesis is discussed. This case may represent a previously unknown neurocutaneous syndrome.

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis.

We divided eight patients with Sturge-Weber syndrome into two groups, depending on the presence or absence of clinical progression, and investigated differences in brain hemodynamics between the groups by measuring regional cerebral blood flow (rCBF) before and after acetazolamide activation using stable xenon computed tomography. The most evident difference between the groups was acetazolamide vaso-reactivity (delta CBF) in the primarily healthy area remote from lesion. delta CBF on the contralateral side and in distant areas on the affected side was significantly lower in the group with progression group (unpaired t-test), although both groups had similar delta CBF values in the area of primary lesion. This remote hemodynamic compromise might aggravate the clinical condition. Operations were performed on three patients with progressive disease, resulting in good seizure control with anticonvulsants and a variable degree of improvement in neurological symptoms and vasoreactivity. The neurological improvement appeared to correlate with the size of the resected area and the increase in delta CBF after surgery.

Demonstration of the full extent of abnormality in patients with the Struge-Weber syndrome (SWS) is important for prognosis and in planning surgery to remove the seizure focus. We compared single-photon emission computed tomography (SPECT), MRI and CT in nine children under the age of 4 years with seizures as part of SWS, in an attempt to determine the optimal method of imaging in different clinical settings. Seven unilateral and two bilateral cases were studied by interictal 99mtechnetium hexamethylpropyleneamineoxime (HMPAO) SPECT, and contrast-enhanced CT and MRI, giving information on 11 abnormal hemispheres. All imaging modalities showed abnormalities in every child. Perfusion imaging showed focal regions of decreased uptake in 9 of 11 (82%) abnormal hemispheres and demonstrated a widespread decrease but no focal defect in 2; it also revealed crossed cerebellar diaschisis in 2 cases. CT demonstrated typical gyriform calcification in 9 of 11 (82%) affected hemispheres. Contrast-enhanced MRI showed more extensive involvement than contrast-enhanced CT in 5 of 11 (45%) cases. The area of hypoperfusion shown by SPECT was smaller than the area of contrast enhancement on MRI in 6 of 11 cases (55%), comparable in 3 (27%) and larger in 2 cases (18%). CT is sufficient to confirm the clinical diagnosis of SWS, but MRI frequently shows more extensive abnormal areas. 99mTc HMPAO imaging is a useful addition when it is important to know the full extent of the disease, for example prior to surgery. It is likely to detect areas of hypoperfusion, representing ischaemic regions, which may act as an epileptogenic focus and may not be shown by CT or MRI.

The prognosis of Sturge-Weber syndrome (SWS) is partly related to early occurrence of seizures but the diagnosis of this phakomatosis may be difficult during the 1st year of life. We have performed a retrospective study of seven patients with confirmed SWS (age 7 days to 3 months). None of the patients was asymptomatic at the time of the study. They all underwent MRI (T1 and T2 sequences) and single photon emission computed tomography (SPECT) at the same time. Regional cerebral blood flow was measured using xenon-133. In all cases, myelination appeared to be accelerated in the areas underlying the leptomeningeal angioma on both MRI sequences. In five cases, SPECT showed hyperperfusion in the damaged hemisphere. In one case, the SPECT was symmetrical and in another it showed hypoperfusion in the damaged hemisphere which was already atrophied. These data suggest that the accelerated myelination is not related to ischemia but to transient hyperperfusion. This MRI pattern can be helpful for the early diagnosis of SWS, which is of utmost importance for preventive antiepileptic treatment.

We report a series of 13 patients with Sturge-Weber syndrome anaesthetised on 17 occasions. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. These patients tolerate anaesthesia well but anaesthetic management includes evaluation for associated anomalies. Difficulty with intubation may occur due to angiomas of the mouth and upper airway. Anaesthesia should be planned to avoid trauma to the haemangiomata and increases in intraocular and intracranial pressure.