scholarly journals Ocular Manifestations of the Sturge–Weber Syndrome

2021 ◽  
Author(s):  
Kiana Hassanpour ◽  
Ramin Nourinia ◽  
Ebrahim Gerami ◽  
Ghavam Mahmoudi ◽  
Hamed Esfandiari
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Subretinal Fluid ◽  
Congenital Glaucoma ◽  
Ocular Involvement ◽  
Success Rates ◽  
Glaucoma Filtration Surgery ◽  
Ocular Abnormality ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient’s visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures

2000 ◽  
Vol 42 (11) ◽  
pp. 756-759 ◽  
Author(s):  
Uri Kramer ◽  
Esther Kahana ◽  
Zamir Shorer ◽  
Bruria Ben-Zeev
Keyword(s):  
Early Onset ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia

2015 ◽  
Vol 8 (1) ◽  
pp. 78
Author(s):  
Sabyasachi Bandyopadhyay ◽  
Indrani Bhattacharjee ◽  
SanatKumar Ghosh ◽  
KanchanKumar Mondal
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

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.

Occurrence and risk factors of uveitis in juvenile psoriatic arthritis: Data from a population-based nationwide study in Germany

2022 ◽  
pp. jrheum.210755
Author(s):  
Karoline Walscheid ◽  
Kai Rothaus ◽  
Martina Niewerth ◽  
Jens Klotsche ◽  
Kirsten Minden ◽  
...  
Keyword(s):  
Risk Factors ◽  
Psoriatic Arthritis ◽  
Early Onset ◽  
Late Onset ◽  
Multivariable Analysis ◽  
Population Based ◽  
Ocular Involvement ◽  
Cross Sectional ◽  
Dmard Treatment ◽  
Clinical Difference

Objective Data on uveitis in juvenile psoriatic arthritis (JPsA), a category of juvenile idiopathic arthritis (JIA), are scarce. We describe prevalence and risk factors for JPsA-associated uveitis (JPsA-U). Methods Cross-sectional data from the National Pediatric Rheumatological Database (from 2002 to 2014) were used to characterize JPsA-U and assess risk factors for uveitis development. Results Uveitis developed in 6.6% of 1862 JPsA patients. JPsA-U patients were more frequently female (73.0 vs 62.9%, p=0.031), ANA positive (60.3 vs 37.0%, p<0.001), younger at JPsA onset (5.3 ± 4.1 vs 9.3 ± 4.4 years, p<0.001), and received DMARD (disease modifying antirheumatic drug) treatment significantly more frequently than JPsA patients without uveitis. On multivariable analysis of a subgroup of 655 patients, mean cJADAS during study documentation was significantly associated with uveitis development. Children with early onset of JPsA were significantly more frequently ANA positive (48.4% vs 35.7% for those younger than 5 years at JPsA onset versus those aged 5 years and older, p<0.001), less often affected by skin disease (55.3% vs 61.0%, p=0.032), but more frequently by uveitis (17.3% vs 3.8%, p<0.001), and required DMARD treatment more frequently (52.9% vs 43.8%, p<0.001). Conclusion The characteristics of JPsA patients developing uveitis are similar to those of patients with uveitis in other JIA categories, such as oligoarticular JIA. Especially those children with early onset of JPsA seem to be at a higher risk for ocular involvement. Our data support the notion of a major clinical difference between those patients with early versus late onset of JPsA.

Sturge-Weber syndrome with late onset hemiplegic migraine-like attacks and progressive unilateral cerebral atrophy

Cephalalgia ◽  
2013 ◽  
Vol 34 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Vincent Planche ◽  
Olivier Chassin ◽  
Louise Leduc ◽  
Wendy Regnier ◽  
Antony Kelly ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Late Onset ◽  
Cerebral Atrophy ◽  
Venous Drainage ◽  
Developmental Venous Anomaly ◽  
Hemiplegic Migraine ◽  
Preventive Medication ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Fdg Pet Ct

Background Sturge-Weber syndrome (SWS) is an uncommon etiology of hemiplegic migraine-like (HM-like) attacks, associated with epilepsy and mental retardation. Case We report the case of a 40-year-old woman with SWS who has been suffering from HM-like episodes since she was 24, with no history of seizure or mental retardation. Susceptibility weighted imaging (SWI)-MRI and CT scans have shown bilateral calcifications of the choroidal plexuses, a developmental venous anomaly with dilated transmedullary veins and a left parieto-occipital leptomeningeal angioma. 18F-Fluorodeoxyglucose (FDG)-PET/CT revealed a diffuse left-hemisphere hypometabolism. The comparison between the MRI performed at the age of 24 and the one performed at the age of 40 highlighted a progressive unilateral fronto-temporo-parietal atrophy. Surprisingly, even now, cognitive functions of this patient are relatively preserved. Lamotrigine permitted an improvement of HM-like attacks. Discussion Explanations for this minimally symptomatic form of SWS may be the absence of seizure, the importance of her deep venous drainage, the absence of cortical calcification and white matter impairment in the affected hemisphere, and, paradoxically, the severely asymmetric cortical metabolism. Furthermore, this case reinforces the hypothesis that alteration of cerebral hemodynamics could precipitate the cortical spreading depression giving rise to migraine with aura. Conclusion We propose to consider SWS as a cause of apparently isolated hemiplegic migraine and lamotrigine as a preventive medication in HM-like attacks.

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.

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

scholarly journals Sturge Weber Syndrome – Roach’s Type II Variant

2020 ◽  
Vol 18 (1) ◽  
pp. 76-79
Author(s):  
Muna Bista ◽  
Sudha Agrawal ◽  
Sweta Taparia
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Corneal Edema ◽  
Congenital Glaucoma ◽  
Type Ii ◽  
Ophthalmic Manifestations ◽  
Wide Range ◽  
Weber Syndrome ◽  
History Of ◽  
Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurocutaneous sporadic disorder caused by mutation in GNAQ gene responsible for persistence of vascular plexus around cephalic portion of neural tube. It has a wide spectrum of cutaneous, neurologic and ophthalmic manifestations, which may or may not be associated with one another. Roach scale has classified it into three types. Here, we present a case of Roach’s Type II variant of SWS with Port-wine stain (PWS) and ocular abnormalities without Central Nervous System (CNS) involvement. A 24 months old female presented with hemangioma involving the left side of face since birth. She had history of corneal edema and buphthalmos at two days of life. There was no history of seizure or developmental delay and Magnetic Resonance Imaging (MRI) of the head ruled out cranial hemangioma. Roach’s Type II is a rare variant of SWS and should be suspected in any case having PWS along the course of trigeminal nerve with congenital glaucoma because the neurologic involvement in a given case may vary from an absence to overt clinical manifestations with or without radiological changes. Due to its wide range of manifestations, a multidisciplinary approach is required for proper management of these patients.

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