Sturge Weber

OBJECTIVES: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus...

Dear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological and dermatological signs and symptoms are common in many clinical entities, especially in the so-called phakomatoses or neurocutaneous syndromes (Von Recklinghausen's disease type 1 and 2, Bourneville-Pringle syndrome, Sturge-Weber syndrome, Von Hippel-Lindau syndrome, Louis-Bar syndrome) (1). The terms "neurodermatitis" and "neurodermatology" also confirm the above...

BACKGROUND AND OBJECTIVES: When seizure onset affects a whole hemisphere, hemispheric disconnections are efficient and safe procedures. However, both lateral peri-insular hemispherotomy and vertical paramedian hemispherotomy approaches report a failure rate around 20%, which can be explained by residual connections giving rise to persistent seizures. In this study, we present the interhemispheric vertical hemispherotomy (IVH), a technical variation of the vertical paramedian hemispherotomy approach, that aims to increase seizure control avoiding residual connections while exposing the corpus callosum...

IMPORTANCE: Neurocutaneous disorders have significant implications for care of the pregnant patient. As neurocutaneous disorders are uncommon, obstetricians may be unfamiliar with these disorders and with recommendations for appropriate care of this population. OBJECTIVE: This review aims to summarize existing literature on the interaction between neurocutaneous disorders and pregnancy and to provide a guide for physicians caring for an affected patient. EVIDENCE ACQUISITION: A PubMed, MEDLINE, and Google Scholar search was carried out with a broad range of combinations of the medical subject headings (MeSH) terms "pregnancy," "Sturge -Weber," "Neurofibromatosis Type 1," "neurofibromatosis type 2," "von Hippel Lindau," "Tuberous Sclerosis," "neurocutaneous disorder," "treatment," "congenital malformations," "neurodevelopmental defects," "miscarriage," "breastfeeding," "autoimmune," "pathophysiology," and "management...

OBJECTIVE: We aimed to evaluate determinants of functional outcome after pediatric hemispherotomy in a large and recent multicenter cohort. METHODS: We retrospectively investigated the functional outcomes of 455 children who underwent hemispherotomy in five epilepsy centers in 2000-2016. We identified determinants of unaided walking, voluntary grasping with the hemiplegic hand, and speaking through Bayesian multivariable regression modeling using missing data imputation...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Sturge-Weber syndrome (SWS) is characterized by facial port-wine stains, leptomeningeal hemangiomas, and prominent ocular manifestations such as glaucoma and diffuse choroidal hemangiomas (DCHs). Imaging modalities are critical for diagnosing and longitudinally monitoring DCHs in SWS. Fundus photography is fundamental in assessing both eyes simultaneously, fluorescein angiography and indocyanine green angiography effectively map the retinal and choroidal circulation, and ultrasonography offers essential structural insights into the choroid and retina...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis with dermal melanocytosis (PPV-DM). The pathognomonic finding of localised "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with post-natal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. We find here that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionised calcium (41%) or high PTH (17%)...

Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive post-natal neurological deterioration led us to seek biologically-targeted therapeutics. Using two cellular models we find here that disease-causing GNAQ/11 variants hyperactivate constitutive and GPCR ligand-induced intracellular calcium signalling in endothelial cells. We go on to show that the aberrant ligand-activated intracellular calcium signal is fuelled by extracellular calcium influx through CRAC channels...

PURPOSE: Sturge-Weber syndrome (SWS) is a developmental disorder with venous hypertension and associated tissue responses including pial angiomatosis, cortical calcifications, and cerebral atrophy. Arterial spin-labeled (ASL) perfusion is an advanced MR sequence which can assess perfusion, without the need for contrast. We systematically evaluated the potential benefits of using ASL in Sturge-Weber syndrome, to determine the extent of intracranial perfusion abnormality and stage of disease, relevant for prognostication and surgical planning...

PRCIS: Among children with unilateral glaucoma associated with Sturge-Weber syndrome, 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier first-eye surgery relative to the non-involvement group. PURPOSE: To determine the incidence of and risk factors for fellow-eye involvement in children with unilateral Sturge-Weber Syndrome (SWS)-associated glaucoma. METHODS: Children diagnosed with unilateral facial port-wine stain (PWS) and ipsilateral glaucoma before the age of five and followed up for at least 5 years were enrolled...

Objective: To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). Methods: This was a retrospective case series study. Medical records of patients diagnosed with secondary glaucoma due to SWS who underwent Ex-PRESS shunt implantation at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, between January 2013 and February 2020 were collected. Only the right eye were included in the analysis when both eyes were affected...

Objective: To analyze the disease composition and primary surgical procedures in pediatric inpatients with secondary glaucoma. Methods: A retrospective case series study was conducted. Clinical data of children aged≤16 years with secondary glaucoma who were admitted to the Zhongshan Ophthalmic Center, Sun Yat-sen University, between January 1, 2017, and December 31, 2021, were included. The patients were classified according to the Childhood Glaucoma Research Network (CGRN) classification system, and their diagnoses, underlying factors, gender, age of onset, affected eye(s), age and type of initial surgery, and ophthalmic examination data were analyzed...

BACKGROUND: Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations. METHODS: Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital...

Episcleral vasculature malformation is a significant feature of Sturge-Weber syndrome (SWS) secondary glaucoma, the density and diameter of which are correlated with increased intraocular pressure. We previously reported that the GNAQ R183Q somatic mutation was located in the SWS episclera. However, the mechanism by which GNAQ R183Q leads to episcleral vascular malformation remains poorly understood. In this study, we investigated the correlation between GNAQ R183Q and episcleral vascular malformation via surgical specimens, human umbilical vein endothelial cells (HUVECs), and the HUVEC cell line EA...

A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes showed bone-spicule pigmentation throughout the fundus with arteriolar attenuation. He had a history of seizures and computed tomography (CT) scan of the brain revealed occipital lobe calcifications. This case describes an uncommon occurrence of rod cone dystrophy in a patient with Sturge Weber syndrome.