scholarly journals Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report

2020 ◽  
Vol 11 (2) ◽  
pp. 356-363
Author(s):  
Samuel Josue Avalos-Lara ◽  
Bani Antonio-Aguirre ◽  
Andric C. Perez-Ortiz ◽  
Cristina Mendoza Velásquez ◽  
Azyadeh Camacho-Ordoñez ◽  
...  
Keyword(s):  
Vascular Malformations ◽  
Anterior Segment ◽  
Ectopia Lentis ◽  
Lens Extraction ◽  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Novel Association ◽  
Sturge Weber Syndrome ◽  
Hallmark Feature ◽  
Lens Luxation

Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30–60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological finding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clinic complaining of right-sided decreased visual acuity and pain after a fall. Phenotypically, the patient had a PWS around V1 territory and involvement of both eyelids. Previous relevant ocular history included retinal detachment without macular involvement, ocular hypertension, and phacodonesis. The slit-lamp examination showed anterior lens luxation and elevated intraocular pressure (IOP) of 40 mm Hg by tonometry. Prior to the surgical approach, the patient received hypotensive treatment for elevated IOP. After intracapsular lens extraction, measurements were consistent with spherophakia. Postoperatively, the patient underwent optical coherence tomography (OCT). There was cystic macular edema (CME) by OCT and a detached posterior hyaloid membrane. The patient fully recovered with topical treatment of bromfenac for CME. To the best of our knowledge, this is the first report of concomitant anterior lens luxation and spherophakia (novel association) in a SWS patient. Our findings supplement the differential ocular diagnoses in SWS and should be considered in the routine ocular exam, specifically of the anterior segment. CME occurred similar to otherwise healthy eyes. However, in this case, topical anti-inflammatory medications had a good response and were well-tolerated.

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 The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation

2019 ◽  
Vol 20 (9) ◽  
pp. 2243 ◽  
Author(s):  
Vi Nguyen ◽  
Marcelo Hochman ◽  
Martin C. Mihm ◽  
J. Stuart Nelson ◽  
Wenbin Tan
Keyword(s):  
Endothelial Cells ◽  
Human Skin ◽  
Current Knowledge ◽  
Vascular Malformations ◽  
Genetic Alterations ◽  
Future Research ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15–20% of children a facial PWS involving the ophthalmic (V1) trigeminal dermatome are at risk for Sturge Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS lesions. Recently, evidence has surfaced that advanced our understanding of the pathogenesis of PWS/SWS, including discoveries of somatic genetic mutations (GNAQ, PI3K), MAPK and PI3K aberrant activations, and molecular phenotypes of PWS endothelial cells. In this review, we summarize current knowledge on the etiology and pathology of PWS/SWS based on evidence that the activation of MAPK and/or PI3K contributes to the malformations, as well as potential futuristic treatment approaches targeting these aberrantly dysregulated signaling pathways. Current data support that: (1) PWS is a multifactorial malformation involving the entire physiological structure of human skin; (2) PWS should be pathoanatomically re-defined as “a malformation resulting from differentiation-impaired endothelial cells with a progressive dilatation of immature venule-like vasculatures”; (3) dysregulation of vascular MAPK and/or PI3K signaling during human embryonic development plays a part in the pathogenesis and progression of PWS/SWS; and (4) sporadic low frequency somatic mutations, such as GNAQ, PI3K, work as team players but not as a lone wolf, contributing to the development of vascular phenotypes. We also address many crucial questions yet to be answered in the future research investigations.

scholarly journals Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome

2015 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Devayani Shinde ◽  
Yogesh G Dabholkar ◽  
Akanksha A Saberwal ◽  
Haritosh Kamalakar Velankar ◽  
Adip K Shetty
Keyword(s):  
Vascular Malformations ◽  
Accurate Diagnosis ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Neurocutaneous Disorder ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Venous Angiomas ◽  
Head Neck

ABSTRACT Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a rare neurocutaneous disorder characterized with vascular malformations and capillary venous angiomas involving the face, choroid of the eye and leptomeninges with port wine stain, seizures activity and mental retardation. In this paper we report a case of a patient affected by Sturge-Weber syndrome presenting with tongue hemangioma and emphasize the importance of an accurate diagnosis and management in the clinical practice. How to cite this article Shinde D, Dabholkar YG, Saberwal AA, Velankar HK, Shetty AK. Use of Intralesional Bleomycin for Oral Hemangioma of Sturge-Weber Syndrome. Int J Head Neck Surg 2015;6(1):17-19.

The Ocular Manifestations of the Sturge-Weber Syndrome

1992 ◽  
Vol 29 (6) ◽  
pp. 349-356 ◽  
Author(s):  
Timothy J Sullivan ◽  
Michael P Clarke ◽  
J Donald Morin
Keyword(s):  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

B-30 Sturge-Weber Syndrome in Adulthood: A Case Study of Superior Cognitive Reserve

2019 ◽  
Vol 34 (6) ◽  
pp. 976-976
Author(s):  
D Abramson ◽  
A Fredrick ◽  
Z Bell ◽  
J Fink
Keyword(s):  
Cognitive Reserve ◽  
Vascular Malformations ◽  
Good Prognosis ◽  
Cognitive Outcome ◽  
Cognitive Profile ◽  
Neuropsychological Evaluation ◽  
Motor Functioning ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Magnetic Resonance Imaging Mri

Abstract Objective Sturge-Weber Syndrome (SWS) is a neurological disorder usually diagnosed in childhood and characterized by facial port-wine stains, seizures, and intracranial vascular malformations. SWS is associated with a variety of neuropsychological presentations in children, but the adult cognitive profile of this disease is not well established. Specifically, little is known about how cerebral abnormalities found using Magnetic Resonance Imaging (MRI) correlate with cognitive difficulties in adulthood or if certain prognostic factors can predict cognitive outcome. Methods The present case involved a 53-year-old, left-handed, Caucasian female with 20 years of education with SWS, possible seizures, multiple concussions, posttraumatic stress disorder (PTSD; multiple reported traumas) and bipolar disorder, referred for a neuropsychological evaluation for progressive problems with memory, word-finding, and coordination over the last 14 years. A neuropsychological evaluation was administered and structural neuroimaging was reviewed. Results MRI studies revealed left hemispheric atrophy with enlargement of the left ventricle, cortical calcification in the left temporo-occipital region, cerebrovascular disease particularly in the frontal lobes, and vascular malformations. Despite severe neuroanatomical abnormalities associated with SWS, as well as comorbid psychiatric disorders, a neuropsychological evaluation revealed a relatively intact cognitive profile, with only scattered minor inefficiencies in attention/processing speed, executive functioning, and motor functioning. Conclusions This case provided an example of good prognosis of SWS in adulthood, despite significant brain abnormalities, potential seizure activity, multiple concussions, and psychiatric comorbidity. Further research is needed to conceptualize the neuropsychological impact of SWS in adulthood, specifically whether aspects of superior cognitive reserve (e.g., higher education) are associated with better prognosis.

Behavioral manifestations post hemispherectomy due to Sturge–Weber syndrome–A case of success

2017 ◽  
Vol 41 (S1) ◽  
pp. s497-s498
Author(s):  
J. Melim ◽  
A. Batista ◽  
A. Tarelho ◽  
R. Araújo ◽  
S. Fonseca
Keyword(s):  
Behavioral Problems ◽  
Basic Education ◽  
Hospital Admissions ◽  
Vascular Malformations ◽  
Behavioral Disorder ◽  
Major Surgery ◽  
Disruptive Behaviour ◽  
Pubmed Database ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

IntroductionSturge-Weber syndrome or encephalotrigeminal angiomatosis is an uncommon neurocutaneous syndrome that manifests with vascular malformations involving the brain, eye and skin; Severe cases present with refractory seizures, sometimes requiring major surgery such as hemispherectomy. Most of the times, some degree of mental retardation and behavioral problems are associated, requiring use of psychotropic medication and other contention strategies. This report describes the case of a 19-year-old boy who was submitted to a left hemispherectomy by the age of one, and was still able to successfully complete basic education. He started presenting severe behavioral problems, with aggressive outbursts, by the beginning of adulthood, having been committed to psychiatry ward. By the age of 22, the patient finds himself calm and functional considering his limitations, with no need for hospital admission for 2 years.Objectives/aimsTo describe a clinical case whilst reviewing literature concerning this matter.MethodsCase report with complete clinical history and medical data. Non-systematic review of PubMed database under the terms “Sturge-Weber disease”, “Hemisferectomy”, “behavioral disorder due to organic causes”, “post hemisferectomy out-comes”.Results/discussionAlthough presenting with severe arteriovenous malformation, refractory epilepsy and left hemispherectomy, the patient was able to conclude basic instruction; He has lived with his family until the age of 19, when he started displaying disruptive behaviour; after 3 hospital admissions and perfecting psychotropic drugs treatment, the patient was admitted to an institution for rare diseases patients Since then he has experienced a calm and functional life, with trained professionals who can offer the non-pharmacological approaches he needs.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhengping Hu ◽  
Jian Cao ◽  
Eun Young Choi ◽  
Yun Li
Keyword(s):  
Retinopathy Of Prematurity ◽  
Retinal Vessel ◽  
Male Infant ◽  
Clinical Findings ◽  
Choroidal Hemangioma ◽  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Postmenstrual Age ◽  
Sturge Weber Syndrome ◽  
Endothelial Growth Factor

Abstract Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

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