scholarly journals The Bone Does Not Predict the Brain in Sturge-Weber Syndrome

2018 ◽  
Author(s):  
R.R. Warne ◽  
O.M. Carney ◽  
G. Wang ◽  
D. Bhattacharya ◽  
W.K. Chong ◽  
...  
Keyword(s):  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Brain

scholarly journals Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

2018 ◽  
Vol 4 (3) ◽  
pp. e236 ◽  
Author(s):  
Michael S. Hildebrand ◽  
A. Simon Harvey ◽  
Stephen Malone ◽  
John A. Damiano ◽  
Hongdo Do ◽  
...  
Keyword(s):  
Brain Tissue ◽  
Molecular Mechanism ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Cutaneous Manifestations ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Low Levels ◽  
The Brain ◽  
Molecular Evaluation

ObjectiveTo determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.MethodsWe used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.ResultsLow levels of the GNAQ mutation were detected in the brain tissue of all 4 cases—ranging from 0.42% to 7.1% frequency—but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal.ConclusionsWe detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%–18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain.

STURGE WEBER SYNDROME- A RARE CASE REPORT ORIGINAL

2021 ◽  
pp. 4-5
Author(s):  
Om Prakash Singh ◽  
Vikas Kumar ◽  
Pushp Kant Tiwari
Keyword(s):  
Rare Case ◽  
Signs And Symptoms ◽  
Port Wine ◽  
Occipital Area ◽  
Weber Syndrome ◽  
Rare Case Report ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
The Brain ◽  
Embryonic Vessels

Sturge-Weber Syndrome (SWS) is one of the encephalotrigeminal angiomatosis and one of the important segmental vascular neurocutaneous disorders .The occurrence is not very uncommon and the prevalence is 1:20000 to 1:50000.(1) SWS occurs due to the presence of residual embryonic vessels . The various signs and symptoms include capillary malformation in the face a port wine birthmark and similar malformation in the brain involving leptomeniges as well as blood vessels of the eye causing glaucoma. The patient presents with seizures , hemiparesis and stroke like symptoms, headaches and developmental delay.(2) The imaging nding in SWS children is the calcication in the parietal and occipital area of the brain. The EEG ndings in SWS are the attenuation and the excess of slow activities.We are presenting here a rare case of , a fourteen year old male child who presented to our emergency department with status epilepticus. The aim of presenting this case is to share the classical presentation and the challenges involved in the management

A Case of Sturge-Weber Syndrome

1963 ◽  
Vol 109 (459) ◽  
pp. 211-212 ◽  
Author(s):  
J. K. W. Morrice ◽  
Winifred M. Small
Keyword(s):  
Similar Case ◽  
The Self ◽  
The Other ◽  
Pathological Features ◽  
Neurological Condition ◽  
Descriptive Term ◽  
Weber Syndrome ◽  
Original Case ◽  
Sturge Weber Syndrome ◽  
The Brain

In 1879 Sturge described a patient with hemiparesis, epilepsy and a facial naevus. He ascribed the neurological condition to a naevus of the brain similar to that on the patient's face. Weber gained the distinction of providing the other half of the eponym by describing the radiological appearances of a similar case. In 1955, however, he advanced the self-effacing descriptive term “encephalofacial angiomatosis”. The essential pathological features of the disorder are facial naevus and leptomeningeal angiomatosis. It is generally agreed that buphthalmos (present in Sturge's original case) is not a necessary component.

Two Cases of the Sturge-Weber Syndrome

1966 ◽  
Vol 112 (488) ◽  
pp. 709-711
Author(s):  
Ranan Rimon ◽  
Olavi Katila
Keyword(s):  
Young Girl ◽  
Congenital Glaucoma ◽  
X Ray ◽  
Naevus Flammeus ◽  
Weber Syndrome ◽  
Calcium Deposits ◽  
Sturge Weber Syndrome ◽  
The Brain

The Sturge-Weber syndrome belongs to the relatively uncommon group of ailments known as heredodegenerative disorders. In 1879 Sturge described a case of epilepsy in a young girl who exhibited a congenital glaucoma and a facial angioma or naevus flammeus. Sturge speculated that the patient's convulsions were caused by a similar naevus formation in the brain. Kalischer (1897, 1901) discovered angiomatotic changes in the meninges, and later the typical calcium deposits corresponding to these angio-mata were found in X-ray examinations by Weber (1922), Dimitri (1923), and Krabbe (1934). The appellation of the Sturge-Weber syndrome varies, owing to the number of its investigators. Levison (1953) calls attention to this question of nomenclature.

Diffusion tensor imaging and magnetic resonance spectroscopy of the brain in a patient with sturge-weber syndrome

2006 ◽  
Vol 47 (9) ◽  
pp. 972-976 ◽  
Author(s):  
P. E. Sijens ◽  
E. W. Gieteling ◽  
L. C. Meiners ◽  
D. A. Sival ◽  
J. H. Potze ◽  
...  
Keyword(s):  
Diffusion Tensor Imaging ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Diffusion Tensor ◽  
Resonance Spectroscopy ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Brain

scholarly journals Cerebrofacial Venous Metameric Syndrome 2 Plus 3: Facial and Cerebral Manifestations

2007 ◽  
Vol 13 (1) ◽  
pp. 55-58 ◽  
Author(s):  
R. Agid ◽  
K.G. TerBrugge
Keyword(s):  
Wide Spectrum ◽  
Venous Malformations ◽  
Mri Imaging ◽  
Unique Case ◽  
Intracranial Involvement ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
The Brain

A unique case of Cerebrofacial Venous Metameric Syndrome (CVMS) in a 25- year-old women is described with venous malformations involving simultaneously the brain and the face. This case represents CVMS 2 plus 3 according to the classification described by Lasjaunias et Al. The metameric distribution of the cerebrofacial venous syndromes is well illustrated in this case. The extracranial and intracranial involvement is described and the appearance on MRI imaging is detailed. In our opinion this case demonstrates that cerebrofacial venous metameric syndromes include a wide spectrum of possible phenotypes including Sturge Weber syndrome and cases such as we describe here.

The Brain Scan in Sturge-Weber Syndrome

Radiology ◽  
1972 ◽  
Vol 103 (3) ◽  
pp. 621-625 ◽  
Author(s):  
David E. Kuhl ◽  
John E. Bevilacqua ◽  
Mark M. Mishkin ◽  
Theodore P. Sanders
Keyword(s):  
Weber Syndrome ◽  
Brain Scan ◽  
Sturge Weber Syndrome ◽  
The Brain

Sturge-Weber syndrome Case report

2018 ◽  
Vol 14 (2) ◽  
pp. 51-57
Author(s):  
Joanna Witanowska ◽  
Małgorzata Laskowska ◽  
Małgorzata Zadurska
Keyword(s):  
Case Report ◽  
Oral Cavity ◽  
Neurological Disorders ◽  
Orthodontic Treatment ◽  
Type I ◽  
Cutis Marmorata Telangiectatica Congenita ◽  
Weber Syndrome ◽  
Congenital Condition ◽  
Sturge Weber Syndrome ◽  
The Brain

Sturge-Weber Syndrome (SWS – encephalotrigeminal angiomatosis) is a rare non-hereditary congenital condition. It develops in the early foetal period, at the stage when the embryo head is being formed, as a result of a random somatic mutation of the GNAQ gene due to unknown reasons. The main symptom is the formation of congenital angiomas, especially in the area of capillaries, in the leptomeninges in the brain, and along the course of the trigeminal nerve. Such angiomas may also be present on lips, and in the whole oral cavity: on its bottom, palate and gingivae. It may lead to serious malocclusions and breathing problems. <b>Aim</b>. This article aims to present problems regarding orthodontic treatment of patients with Sturge-Weber syndrome, using an example of a 7-year-old female patient.<b> Case report</b>. A 7-year-old girl with all signs of this syndrome, namely glaucoma, epilepsy, neurological disorders, cutis marmorata telangiectatica congenita and after sanitation of the oral cavity, had hygiene procedures and exercises with a vestibul plate introduced. Two attempts to take impressions for appliances failed due to patient’s anxiety reactions. <b>Conclusions</b>. This case shows difficulties that may be faced by an orthodontist when treating patients with Sturge-Weber syndrome. In this case, namely type I in the Roach scale, due to neurological disorders it was necessary to take special precautions in relation to procedures introduced and to avoid stress in a patient. It makes orthodontic treatment difficult.<b> (Witanowska J, Laskowska M, Zadurska M. Sturge-Weber syndrome. Case report. Orthod Forum 2018; 14: 143-9)</b>.

Sturge-Weber Syndrome

2000 ◽  
Vol 3 (3) ◽  
pp. 301-305 ◽  
Author(s):  
Venita Jay
Keyword(s):  
Nerve Tissue ◽  
Port Wine ◽  
Difficult Question ◽  
Probable Relationship ◽  
Weber Syndrome ◽  
Mucous Membranes ◽  
Sturge Weber Syndrome ◽  
The Right ◽  
The Brain

I have no intention of going into the difficult question of the pathology of port-wine mark. The point to which I wish to call particular attention is the probable relationship between the mark and the fits …. From the nature of the fits, and from their mode of onset, I think there can be no doubt that they are due to some cause external to the nerve-tissue … and this external cause is in all probability to be found in the presence of a “port-wine mark” on the surface of the right side of the brain, just as we have found it in the skin, mucous membranes, and retina of that side. William Allen Sturge, 1879

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