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.

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

scholarly journals Sturge Weber Syndrome: A Case Report

1970 ◽  
Vol 30 (3) ◽  
pp. 164-165
Author(s):  
S Devkota ◽  
S Upadhyay
Keyword(s):  
Venous Drainage ◽  
Congenital Glaucoma ◽  
Inherited Disease ◽  
Port Wine ◽  
Venous Plexus ◽  
The Family ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndrome ◽  
Cortical Venous Drainage

Sturge-Weber syndrome is a neurocutaneous syndrome characterized by port wine stain, congenital glaucoma, and underlying anomalous leptomeningeal venous plexus and the lack of normal cortical venous drainage. It is a congenital but not an inherited disease and it occurs sporadically and is very rare, incidence being approximately 1 on 50000. It occurs with rare exception but occasionally the other members of the family may have hemangiomata of a lesser degree.  DOI: 10.3126/jnps.v30i3.3920J Nep Paedtr Soc 2010;30(3):164-165

scholarly journals Periodontal Manifestations and Unusual Radiographic Features in a Patient with Sturge-Weber Syndrome: A Case Report

2018 ◽  
Vol 6 (1) ◽  
pp. 28-34
Author(s):  
Mohammad Taghi Chitsazi ◽  
Adileh Shirmohammadi ◽  
Nasrin Rahmanpour ◽  
Monir Moradzadeh Khiyavi
Keyword(s):  
Congenital Glaucoma ◽  
Port Wine ◽  
Capillary Malformation ◽  
Gingival Enlargement ◽  
Weber Syndrome ◽  
Vascular Proliferation ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Hands And Feet ◽  
Developmental Condition

The Sturge-Weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. This syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull and the tissues of brain, jaws, oral soft and hard tissues and rarely other body organs. Seizures, mental retardation, and cortical calcification (tram-tracks) and congenital glaucoma may be seen in this syndrome. We report here a 40-year-old female with Sturge-Weber syndrome associated with bilateral cutaneous capillary malformation on her face, neck, hands and feet and also gingival enlargement.

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

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.

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.

Sturge-Weber Syndrome With Congenital Glaucoma and Cytochrome P450 (CYP1B1) Gene Mutations

2010 ◽  
Vol 19 (6) ◽  
pp. 398-404 ◽  
Author(s):  
Mukesh Tanwar ◽  
Ramanjit Sihota ◽  
Tanuj Dada ◽  
Vinay Gupta ◽  
Taposh K. Das ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Gene Mutations ◽  
Congenital Glaucoma ◽  
Cyp1b1 Gene ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome
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