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sturge weber syndrome

F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
Michele Arigliani, Giulia Bravar, Giovanni Crichiutti, Serena D'Agostini, Paola Cogo
No abstract text is available yet for this article.
August 18, 2016: Pediatric Neurology
Xiangyu Liu, Taisuke Otsuki, Akio Takahashi, Takanobu Kaido
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...
2016: SpringerPlus
Matsanga Leyila Kaseka, Jonathan Yehouda Bitton, Jean-Claude Décarie, Philippe Major
BACKGROUND: Sturge-Weber syndrome is characterized by a facial port-wine stain associated with either or both a retinal angioma and a cerebral pial angioma. Because a pial angioma may not be evident on the initial imaging studies, individuals at risk for epilepsy are often not identified before their first seizure. The aim of this study is to identify predictive factors predisposing Sturge-Weber patients to epilepsy. METHODS: The medical archives and photography database of our institution were reviewed to identify Sturge-Weber Syndrome patients followed up between 1990 and 2015...
August 18, 2016: Pediatric Neurology
Kazuaki Yamaguchi, Daniel Lonic, Chit Chen, Lun-Jou Lo
BACKGROUND: Although previous studies have reported soft-tissue management in surgical treatment of Sturge-Weber syndrome (SWS), there are few reports describing facial bone surgery in this patient group. The purpose of this study is to examine the validity of our multidisciplinary algorithm for correcting facial deformities associated with SWS. To the best of our knowledge, this is the first study on orthognathic surgery for SWS patients. METHODS: A retrospective chart review included 2 SWS patients who completed the surgical treatment algorithm...
August 2016: Plastic and Reconstructive Surgery. Global Open
A Yasmine Kirkorian, Anna L Grossberg, Katherine B Püttgen
The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome...
September 2016: Seminars in Cutaneous Medicine and Surgery
Jayaprakash Harsha Kamble, Krishnan Parameswaran
Subcortical T2 hypointensity is an uncommon finding seen in very limited conditions such as multiple sclerosis, Sturge-Weber syndrome, and meningitis. Some of the conditions such as moyamoya disease, severe ischemic-anoxic insults, early cortical ischemia, and infarcts are of "arterial origin." We describe two conditions in which "venous congestion" plays a major role in T2 hypointensity - cerebral venous sinus thrombosis (CVST) and dural arteriovenous fistula (dAVF). The third case is a case of meningitis, showing T2 hypointensity as well, and can be explained by the "venous congestion" hypothesis...
July 2016: Annals of Indian Academy of Neurology
Oliver Ristow, Christian Freudlsperger, Moritz Berger, Heidi Bächli, Jürgen Hoffmann, Michael Engel
Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. However, to the best of our knowledge, the diagnosis of a combination of both Sturge-Weber syndrome and trigonocephaly has not as yet been reported. This brief clinical study thus presents a patient with the unusual findings of a Sturge-Weber syndrome and simultaneous trigonocephaly induced by premature metopic synostosis...
October 2016: Journal of Craniofacial Surgery
Osamah J Saeedi, Luke Y Chang, Karun S Arora, Henry D Jampel, Harry A Quigley
We report a case of a suspected Sturge-Weber syndrome variant diagnosed at the age of 58 with the help of enhanced depth imaging spectral-domain ocular coherence tomography (EDI-SDOCT). A 58-year-old female with unilateral glaucoma was suspected to have choroidal vascular lesion, conjunctival angioma, and no facial port-wine stain who presented to the clinic with bleb dysesthesia many years after trabeculectomy. EDI-SDOCT was performed and revealed markedly increased choroidal thickness in the affected eye...
July 2016: Middle East African Journal of Ophthalmology
Shameem Ahmed, Siba Prosad Paul
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiplegia following a mild head injury. He was known to have seizure disorder and was being treated with sodium valproate. CTscan of the brain showed contusion. He was admitted for neurological observations and the patient made complete recovery with conservative treatment...
August 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Obuoha Ejike, Calistus Odume, Uchenna Ekwochi, Ikenna Ndu, Ugochukwu Imanyikwa
The presentation of a newborn with perinatal asphyxia and poor developmental milestones in a resource-poor setting. Many a times, obscured, unsuspected, and uncommon etiologies compound well-known causes of failure to thrive; in this case a rare finding of Type III Sturge-Weber Syndrome was revealed by Brain CT scanning.
August 2016: Clinical Case Reports
Stephanie A Tikkanen
In this essay, the author identifies the theme of (in)visibility permeating her research on fathers of children with a rare genetic condition, Sturge-Weber syndrome. The tension between physical visibility of the condition and lack of awareness is explored, alongside issues of (in)visibility in coping and support-seeking strategies of fathers. Finally, the author examines her own experiences in the research process through the lens of (in)visibility, in both managing her own emotions and exploring her roles as a researcher, an aunt, and a public intellectual...
August 2, 2016: Health Communication
Satyam Dutt, Preeti Dhawan, Vivek Gaurav, Keerti Chandail
No abstract text is available yet for this article.
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Nitasha Klar, Bernard Cohen, Doris D M Lin
Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases...
2016: Handbook of Clinical Neurology
Rumana N Hussain, Fidan Jmor, Bertil Damato, Heinrich Heimann
PURPOSE: Choroidal haemangiomas associated with Sturge Weber syndrome most commonly affect the posterior pole and consequently result in amblyopia. Treatment is often challenging but usually unwarranted unless there is visual deterioration caused by exudative or neovascular complications. The main objective is to demonstrate the effectivity of photodynamic therapy in this context. DESIGN AND METHODS: Retrospective analysis of prospectively collected data regarding verteporfin photodynamic therapy (PDT) in the treatment of patients with choroidal haemangiomas associated with Sturge Weber syndrome...
September 2016: Photodiagnosis and Photodynamic Therapy
Edit Bosnyák, Michael E Behen, William C Guy, Eishi Asano, Harry T Chugani, Csaba Juhász
BACKGROUND: Sturge-Weber syndrome is often accompanied by seizures and neurocognitive deterioration, although previous studies have suggested that early functional brain reorganization may diminish the cognitive sequelae in some children with unilateral Sturge-Weber syndrome. The "rules" governing these plasticity mechanisms are poorly understood. In this study, we evaluated longitudinal changes of cognitive functioning (intelligence quotient [IQ]) and assessed the performance of clinical, electroencephalography (EEG), and magnetic resonance imaging (MRI) variables for predicting IQ in children with Sturge-Weber syndrome...
August 2016: Pediatric Neurology
Jo Lebeer
BACKGROUND: The theory of Structural Cognitive Modifiability and Mediated Learning Experience of Reuven Feuerstein states that individuals with brain impairment, because of congenital or acquired origin, may substantially and structurally improve their cognitive functioning, by a systematic intervention based on a specific, criteria-based type of interaction ("mediated learning"). Three application systems are based on it: a dynamic-interactive assessment of learning capacity and processes of learning, the LPAD (Learning Propensity Assessment Device); a cognitive intervention program called "Instrumental Enrichment Program", which trains cognitive, metacognitive and executive functions; and a program, which is oriented at working in context, Shaping Modifying Environments...
June 18, 2016: NeuroRehabilitation
A G Melikyan, Yu V Kushel', A N Vorob'ev, N A Arkhipova, V S Sorokin, N V Lemeneva, I A Savin, I N Pronin, A B Kozlova, O A Grinenko, S B Buklina, I A Nagorskaya
INTRODUCTION AND PURPOSE: Hemispherectomy is a recognized option in the treatment of symptomatic forms of intractable focal epilepsy in patients with developmental brain malformations and some acquired lesions of one the hemispheres. The prognosis for an outcome of the technique is important in terms of the indications for surgical treatment. MATERIAL AND METHODS: We described the hemispherectomy technique and its variants and analyzed our own experience of surgery in 40 children...
2016: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
Gyanendra Saroj, Anshul Gangwar, Jatinder Kaur Dhillon
Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma...
January 2016: International Journal of Clinical Pediatric Dentistry
Anne M Comi, Mustafa Sahin, Adrienne Hammill, Emma H Kaplan, Csaba Juhász, Paula North, Karen L Ball, Alex V Levin, Bernard Cohen, Jill Morris, Warren Lo, E Steve Roach
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder...
May 2016: Pediatric Neurology
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