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sturge weber syndrome

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https://www.readbyqxmd.com/read/27928421/asymmetrical-intraocular-pressures-and-asymmetrical-papilloedema-in-pseudotumor-cerebri-syndrome
#1
Mitchell Lawlor, Michael G Zhang, Jonathan Virgo, Gordon T Plant
This report is of two cases of asymmetrical papilloedema in patients with asymmetrical intraocular pressures (IOPs). The first patient presented with headaches, transient visual obscurations (TVOs), and elevated IOPs, and was found to have increased intracranial pressure caused by a torcula meningioma. He developed papilloedema after his IOPs were pharmacologically lowered; the papilloedema resolved after the IOP became elevated again after stopping his glaucoma drops, and then again returned as the IOP reduced when the drops were restarted...
December 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#2
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27909387/predicting-and-preventing-epilepsy-in-sturge-weber-syndrome
#3
COMMENT
Csaba Juhász
Investigators from the University of Montreal studied potential predictors of epilepsy in young patients with Sturge-Weber syndrome (SWS).
November 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27903813/abnormal-neurovascular-coupling-during-status-epilepticus-migrainosus-in-sturge-weber-syndrome
#4
Moksh Sethi, Magdalena A Kowalczyk, Linda J Dalic, John S Archer, Graeme D Jackson
No abstract text is available yet for this article.
November 30, 2016: Neurology
https://www.readbyqxmd.com/read/27887956/-childhood-s-ophthalmologic-involvement-in-sturge-weber-krabbe-syndrome
#5
M Wirth, M-C Bazard, E Schmitt, M Rouabah, J-M Hascoët
Ophthalmologic involvement in Sturge-Weber-Krabbe syndrome (SWKS) is present in 30-70% of cases and needs to be reviewed because of its impact on visual development. We report a case of a newborn for whom SSWK with ophthalmologic involvement was suspected. She had a right segmental plane angioma associated with right congenital glaucoma and suspected right pial angioma. Ophthalmic involvement in SWKS may be nonocular: iatrogenic by treatment-associated complications and central by leptomeningeal damage. Ophthalmologic involvement can occur throughout childhood and is mainly represented by glaucoma and diffuse choroidal hemangioma and then conjunctival hemangioma, retinal detachment, and iris heterochromia...
November 22, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27873347/infantile-hemangioma-with-minimal-or-arrested-growth-further-observations-on-clinical-and-histopathologic-findings-of-this-unique-but-underrecognized-entity
#6
Ellen Hui Ma, Susan J Robertson, Chung W Chow, Philip S Bekhor
BACKGROUND: Infantile hemangioma (IH) with minimal or arrested growth (IH-MAG) is becoming increasingly recognized in the literature. It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic abnormalities; eye anomalies) syndrome or Sturge-Weber syndrome is suspected...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27864521/enlargement-of-deep-medullary-veins-during-the-early-clinical-course-of-sturge-weber-syndrome
#7
Vinod K Pilli, Harry T Chugani, Csaba Juhász
No abstract text is available yet for this article.
November 18, 2016: Neurology
https://www.readbyqxmd.com/read/27795889/sturge-weber-syndrome-with-intracerebral-hemorrhage-a-case-report
#8
Masashi Chonan, Yasuhiro Suzuki, Shinya Haryu, Shoji Mashiyama, Teiji Tominaga
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...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27769582/-orbito-palpebral-vascular-pathology
#9
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
https://www.readbyqxmd.com/read/27663490/a-cerebral-infarction-in-a-girl-with-sturge-weber-syndrome
#10
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
https://www.readbyqxmd.com/read/27652010/vertical-parasagittal-hemispherotomy-for-sturge-weber-syndrome-in-early-infancy-case-report-and-literature-review
#11
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
https://www.readbyqxmd.com/read/27637568/predictive-factors-for-epilepsy-in-pediatric-patients-with-sturge-weber-syndrome
#12
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
https://www.readbyqxmd.com/read/27622111/correction-of-facial-deformity-in-sturge-weber-syndrome
#13
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
https://www.readbyqxmd.com/read/27607321/genetic-basis-for-vascular-anomalies
#14
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
https://www.readbyqxmd.com/read/27570403/-venous-congestion-as-a-cause-of-subcortical-white-matter-t2-hypointensity-on-magnetic-resonance-images
#15
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
https://www.readbyqxmd.com/read/27557468/combination-of-sturge-weber-syndrome-and-trigonocephaly
#16
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
https://www.readbyqxmd.com/read/27555719/unilateral-glaucoma-associated-with-conjunctival-angioma-and-choroidal-thickening-without-facial-angioma
#17
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
https://www.readbyqxmd.com/read/27539768/hemiplegia-following-mild-head-injury-in-a-child-with-sturge-weber-syndrome-a-diagnostic-dilemma
#18
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
https://www.readbyqxmd.com/read/27525070/a-rare-type-of-congenital-sturge-weber-syndrome-presenting-with-history-of-perinatal-asphyxia
#19
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
https://www.readbyqxmd.com/read/27485553/aunting-as-a-call-to-public-intellectualism-the-roles-of-in-visibility-in-health-communication-research-and-service
#20
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
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