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

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 A case report of a pregnant woman with Sturge-Weber syndrome

2020 ◽  
Vol 48 (4) ◽  
pp. 030006052091370
Author(s):  
Ying Luo ◽  
Yang Yang ◽  
Xiu Chen
Keyword(s):  
Magnetic Resonance Imaging ◽  
Pregnant Woman ◽  
Cerebral Hemisphere ◽  
Surgical Intervention ◽  
Port Wine ◽  
Resonance Imaging ◽  
Intracranial Vessel ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Right

A 23-year-old pregnant woman presented with headache and paroxysmal spasm of the right limb. She was born with a port-wine birthmark around the left eye frame. Magnetic resonance imaging revealed evidence of atrophy, calcification and vascular malformation in the left cerebral hemisphere. She was diagnosed with Sturge-Weber syndrome. She gave birth to a child without a port-wine birthmark through a caesarean section and her headache eased without surgical intervention of the intracranial vessel hyperplasia. This case suggests that pregnant women with SWS can deliver safely.

scholarly journals Periodontal Management of Sturge-Weber Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Butchibabu Kalakonda ◽  
Koppolu Pradeep ◽  
Ashank Mishra ◽  
Krishnanjaneya Reddy ◽  
Tupili Muralikrishna ◽  
...  
Keyword(s):  
Oral Manifestations ◽  
Port Wine Stain ◽  
Scaling And Root Planing ◽  
Port Wine ◽  
Ocular Abnormalities ◽  
Parietal Lobes ◽  
Gingival Enlargement ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

PATHOHISTOLOGICAL CHANGES IN PIGS WITH MYCOPLASMOSIS

2021 ◽  
Vol 12 (4) ◽  
Author(s):  
N. B. Kolych ◽  
◽  
N. V. Hudz ◽  
Keyword(s):  
Mucous Membrane ◽  
Alveolar Wall ◽  
Soft Or ◽  
Diffuse Infiltration ◽  
Small Areas ◽  
Perivascular Edema ◽  
Mucous Membranes ◽  
The Right ◽  
The Brain ◽  
Dark Pink

A pathological autopsy was performed on 6 corpses of piglets in the first week of life who died from mycoplasmosis. Examination of the visible mucous membranes revealed hyperemia of the mucous membrane of the nasal cavity and thymus. Simultaneous lesions of the pharyngeal, parotid, cervical, mandibular lymph nodes were noted. They were slightly enlarged, from dark pink to dark red. The heart is irregularly shaped due to the expansion of the right ventricle or the diffuse expansion of all departments. Lungs have doughy consistency, uneven color. In some cases, there are diffuse red areas covering the entire lobe of the lungs, in other cases, there is a defeat of small areas. The liver has a smooth surface, soft or pasty consistency, the parenchyma pattern is slightly smoothed in section. The color of the liver is different: dark red areas, without clear boundaries turn into creamy-clay. Flatulence was a characteristic feature of the stomach and intestines. Catarrhal enteritis was registered in animals, which manifested itself in the form of moderate hyperemia of the intestinal mucosa and serous membranes. Microscopically, there is a significant blood supply to the vessels in the lungs. Alveoli are half fall down, in the form of slit-like lumens. In areas of tissue infiltration by inflammatory infiltrate, the alveolar wall is thickened, alveocytes are in a state of turbid swelling and vacuolar dystrophy, they are impregnated with erythrocytes. Peribronchial pneumonia of lymphocytic character is observed. The liver is in a state of acute venous hyperemia. The central and intraparticle capillaries are sharply dilated and filled with blood in some lobes, and the hepatic beams are compressed accordingly. In the center of other lobes, diffuse infiltration of liver tissue by erythrocytes as a consequence of diapedesis is noted. Hepatocytes are in a state of granular dystrophy. Destructive changes are strongly expressed in the mucous membrane of the small intestine: desquamation of the epithelium, necrosis of epitheliocytes and villi, destruction of crypts. In the brain tissue, there is dilation of the lumens of large and small blood vessels, extracellular and perivascular edema, areas of reactive necrosis.

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

2010 ◽  
Vol 14 (1) ◽  
pp. 105 ◽  
Author(s):  
Debajit Ray ◽  
Anil K. Mandal ◽  
G. Chandrasekhar ◽  
Milind Naik ◽  
Niteen Dhepe
Keyword(s):  
Vascular Malformations ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

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.

Port-Wine Stain (Nevus Flammeus) in Sturge-Weber Syndrome

2018 ◽  
pp. 1406-1408
Author(s):  
Jason E. Hale ◽  
Sumayya J. Almarzouqi ◽  
Michael L. Morgan ◽  
Andrew G. Lee
Keyword(s):  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Nevus Flammeus

scholarly journals Isolated leptomeningeal angiomatosis in the sixth decade of life, an adulthood variant of Sturge Weber Syndrome (Type III): role of advanced Magnetic Resonance Imaging and Digital Subtraction Angiography in diagnosis

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Vetrivel Muralidharan ◽  
Gaetano Failla ◽  
Mario Travali ◽  
Tiziana Liliana Cavallaro ◽  
Marco Angelo Politi
Keyword(s):  
Clinical Presentation ◽  
Subcortical White Matter ◽  
Digital Subtraction ◽  
Resonance Imaging ◽  
Radiological Findings ◽  
Hyperintense Signal ◽  
Right Cerebral Hemisphere ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Right

Abstract Background Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS with isolated leptomeningeal angiomatosis has never been reported to our knowledge. Case presentation We report here a case of an isolated temporo-parieto-occipital leptomeningeal angiomatosis on the right cerebral hemisphere in a sixty-two-year-old male who presented with generalized seizure, GCS score 14/15 (E4 V4 M6) with equal and reacting pupils, psychomotor slowing, left hemineglect and grade 4 power in the left upper and lower limbs. Over a period of 48 h his neurological status deteriorated, but recovered spontaneously over a week on titration with anticonvulsants. He had a prior history of treatment for focal leptomeningitis, three years ago. Cerebrospinal fluid (CSF) analysis showed glucose of 75 mg/dL, proteins of 65 mg/dL and culture grew no organisms. On follow-up, he had intermittent episodes of focal seizure for two years. Initial, computed tomography of brain showed hyperdense lesion in the parieto-occipital convexity subarachnoid space on the right cerebral hemisphere mimicking subarachnoid hemorrhage and computed tomography angiography showed no significant abnormality. Magnetic resonance imaging (MRI) of brain showed intense pial enhancement in the right temporo-parieto-occipital region with a subtle T2W hyperintense signal in the underlying subcortical white matter without edema or infarct or mass effect. Digital subtraction cerebral angiography (DSA) showed hypertrophy of the cerebral arteries, arteriolo-capillary bed and venules in the right temporo-parieto-occipital territory associated with early arterio-capillary and venous opacification. Serial MRI done after six months, one and two years showed increase in the T2W hyperintense signal in the subcortical white matter and cortical atrophy with no changes in the pial enhancement. MR perfusion imaging showed reduced cerebral blood flow (CBF) and cerebral blood volume (CBV) in the right parieto-temporo-occipital cortical and subcortical regions and increased perfusion in the leptomeninges with reduction of the NAA / Cr ratios in spectroscopy. Conclusion Conglomeration of various radiological findings in MRI, Perfusion, MRS and DSA with the clinical presentation can aid in establishing the diagnosis of this rare presentation of SWS-type 3 variant in late adulthood.

scholarly journals STURGE-WEBER SYNDROME: A CASE REPORT

2018 ◽  
Vol 11 (3) ◽  
pp. 3
Author(s):  
Janani R ◽  
Kiruthika S ◽  
Arunachalam Ramachandran ◽  
Kumaresan A
Keyword(s):  
Developmental Delay ◽  
Clinical Manifestations ◽  
Cerebral Atrophy ◽  
Physiotherapy Treatment ◽  
Physical Diagnosis ◽  
Medical College ◽  
Developmental Age ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
The Right

  To report a clinical case of Sturge-Weber syndrome (SWS) 1 year 8-month-old male child reported to Saveetha Medical College, Physiotherapy Department presented with complaints of difficulty in sitting, standing, and walking. Computed tomography brain revealed unilateral calcification and cerebral atrophy on the right side. Physical diagnosis revealed the child had left hemiparesis with developmental delay. The child had a developmental delay with a motor developmental age of 2 months. As clinical manifestations of SWS are wide, it leads to multidisciplinary approaches. Physiotherapist’s knowledge is important for early diagnosis and to provide an adequate physiotherapy treatment.

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