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Review Article Available Online at http://www.recentscientific.com International Journal of CODEN: IJRSFP (USA) Recent Scientific International Journal of Recent Scientific Research Research Vol. 12, Issue, 07 (D), pp. 42373-42377, July, 2021 ISSN: 0976-3031 DOI: 10.24327/IJRSR Review Article REVIEW OF A SEGMENTAL VASCULAR NEUROCUTANEOUS DISORDER: STURGE WEBER SYNDROME Gagandeep Kaur, Mandeep Kaur* and Haramritpal Singh Guru Gobind Singh Medical College, Faridkot DOI: http://dx.doi.org/10.24327/ijrsr.2021.1207.6084 ARTICLE INFO ABSTRACT Sturge Weber syndrome (SWS), also known as encephalo-trigeminal angiomatosis, is a type of Article History: neurocutaneous disorder characterized by the triad of features, i.e. port-wine facial birthmark Received 6th April, 2021 (PWB), leptomeningeal angiomatosis, and glaucoma. It is a rare sporadic disease occurring due to Received in revised form 15th somatic mutation in the GNAQ gene on chromosome 9. The diagnosis is based on clinical features, May, 2021 facial appearance, and brain MRI showing typical changes in the leptomeninges. Seizure activity is Accepted 12th June, 2021 often present in SWS cases and is managed initially with the help of a single or combination of Published online 28th July, 2021 anticonvulsant drugs. Early diagnosis and monitoring of glaucoma are crucial to prevent visual loss in children. Medical and surgical management of neurological and ocular manifestations like Key Words: glaucoma should be considered as early as possible to avoid complications and improve the quality Encephalo-trigeminal angiomatosis, port- of life. Recently, with significant improvement in neuroimaging techniques and treatment options, wine facial birthmark, leptomeningeal we are still facing multiple challenges in managing SWS. This article will review few recent updates angiomatosis, seizure, glaucoma, MRI of clinical features and management of ocular manifestations. Copyright © Gagandeep Kaur et al, 2021, this is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited. INTRODUCTION mutation. GNAQ gene mutation is mosaic and strongly associated with SWS (6,7). Sturge-Weber syndrome (SWS) is a rare segmental vascular neurocutaneous disorder. A neurocutaneous syndrome is a Defective signalling due to somatic and mosaic mutation leads group of disorders, earlier known as phakomatoses (1). to early embryological malformation and malfunctioning of Phakomatoses consist of syndromes like neurofibromatosis blood vessels. A defect is mainly present in the capillaries of type 1 and 2, tuberous sclerosis, von-Hippel-Lindau syndrome, the leptomeninges. Chronic decrease in blood flow leads to and ataxia telangiectasis (2). hypoxic and ischemic changes in brain tissue. Slow speed of blood flow through abnormal blood vessels further leads to Neurofibromatosis type 1 is the most common among venous stasis giving rise to thrombus, which results in sequelae neurocutaneous syndromes, followed by tuberous sclerosis and like seizures, stroke-like episodes, and even hemiparesis. SWS. It is a dermato-oculo-neural syndrome characterized by Cortical atrophy and finally calcification of brain tissue occur cutaneous facial nevus flammeus in the distribution of due to long-standing vascular abnormalities (8). [Flowchart: 1] trigeminal nerve branches, i.e. Vth cranial nerve, ipsilateral diffuse cavernous hemangioma of the choroid, and ipsilateral A somatic mutation in the GNAQ gene on chromosome 9q21 leptomeningeal hemangiomatosis (3). The lesions involve has been identified, in a recent study associated with SWS. The mainly the brain, eye, and skin. SWS is the only function of GNAQ is to increase the activity of extracellular Neurocutaneous syndrome that is not associated with any signal-regulated kinases (ERK) phosphorylation. This recent intracranial neoplasm. Instead, SWS mainly involves occipital research may open many pathways toward newer treatment and posterior parietal lobes, but it may affect other cortical options like ERK inhibitors and helps to understand the regions and can be even bilateral ( 2,4). molecular basis of the disease (9). Pathophysiology The incidence of SWS is 2 in 1 lac live births. There is no sex and race predilection (5,6). SWS is a sporadic non-familial disease involving the G protein alpha subunit q (GNAQ) gene *Corresponding author: Mandeep Kaur Guru Gobind Singh Medical College, Faridkot Gagandeep Kaur et al., Review of A Segmental Vascular Neurocutaneous Disorder: Sturge Weber Syndrome common type, followed by complex partial seizures (8). A small group of patients may also present with atonic seizures, absence seizures, or even infantile spasms (14,15). In the adult, SWS patients may have some degree of focal neurological deficit leading to hemiparesis (16). Hemiparesis or weakness of the opposite side of port wine stain can occur in >50% of patients (2). Developmental delay in children can occur, affecting, mild learning abilities and may cause severe cognitive impairment. Headaches and migraines can severely impair the quality of life in adults and are commonly associated with adult patients of SWS (8). Over a while, neuropsychiatric manifestations like intellectual and behavioural changes can also occur (4). Flowchart 1 Classification SWS is divided into four types according to the Roach scale, and type I is a classical form (10). Type I - Dermato-neurological form. The patient will have leptomeningeal angioma and facial angioma, with or without glaucoma. Usually, it is not associated with systemic manifestations. Type II - Dermato-ocular form. The patient will have port-wine stain without brain involvement but may be associated Fig 1 A Case of Sturge Weber Syndrome showing presence of the Unilateral with glaucoma. No systemic manifestation is seen. Port-wine birth spot and lesion is respecting midline of the face (Courtesy: Type III - Purely Neurological form. The patient will have Dr. Mandeep Kaur) isolated leptomeningeal angioma without glaucoma. Ocular manifestations are seen both in the anterior and Type IV - The patient will have a classical SWS (type I) and posterior segment in up to 50% of patients. SWS involves the systemic manifestation such as tuberous sclerosis. eyelid, anterior chamber, cornea, iris, choroid, and retina. In Clinical Features addition, the alteration of ocular blood flow may show areas of localized or diffuse discoloration in the bulbar conjunctiva, Commonly involved organs are the CNS, eye, face, mucosa of mainly around the limbus and telangiectasis of conjunctival the mouth, and pharynx. vessels (6). [Figure: 2] Facial port-wine birth spots (PWB) have been present since birth and can be associated with other syndromes like Klippel- Trenaunay syndrome, Parkes - Weber syndrome, etc (6,11). A patient with PWB will have approximately a 15% chance of having SWS; therefore, screening is vital in neonates. PWB’s are associated with 20-50% SWS cases involving the forehead and upper eyelid. PWB is unilateral or ipsilateral to brain involvement. PWS occurs due to congenital capillary malformation, sometimes involving the lower face and trunk, mucosa of the mouth, and pharynx (12). PWS darken with age due to progressive vascular ectasia, and even nodular and hypertrophied appearance can occur later in life (13). [Figure:1] Brain involvement will have a characteristic capillary malformation of leptomeninges leading to leptomeningeal- Fig 2 A case of Sturge Weber Syndrome having megalocornea (diameter 13.5mm * 13mm ) and operated trabeculectomy (Courtesy: Dr. Mandeep Kaur) hemangiomatosis. Different neurological presentations are seizures, hemiparesis, stroke-like episode, headaches, and Glaucoma is most frequently associated with SWS cases developmental delay. The most common neurological involving ipsilateral eye to PWB. The raised intraocular presentation is seizures in early childhood (<1 year of age). pressure occurs either due to increased episcleral venous Seizures can occur in >70% of SWS cases with unilateral brain pressure (EVP) or angle malformations or both leading to involvement and approximately >90% of SWS cases with glaucomatous changes like buphthalmos, hazy cornea, optic bilateral brain involvement. The focal motor seizure is the most atrophy, and visual field defects. Sometimes, fluid 42374 | P a g e International Journal of Recent Scientific Research Vol. 12, Issue, 07 (D), pp. 42373-42377, July, 2021 hypersecretion, due to the ciliary body or choroidal retinal detachment. Routine ocular examination on slit lamp hemangioma, may also cause raised intraocular pressure (IOP). microscopy is essential to detect changes in the anterior Glaucoma shows the bimodal distribution in SWS patient’s segment like eyelids, conjunctiva, episclera, cornea, and lifetime, i.e. congenital or early-onset form affecting >60% and heterochromia iridis. Indirect ophthalmoscopy will typically later-onset form affecting childhood and adolescence in about show features of diffuse choroidal hemangiomas. B- scan 40% of cases (6,16). ultrasonography will show choroidal thickening in the presence [Flowchart: 2] of diffuse choroidal hemangiomas and can even detect exudative retinal detachment if present (6, 19) Recently, genetic studies of SWS cases with glaucoma have shown mutations in the CYP1B1 gene associated with primary Strict monitoring of glaucoma is mandatory in SWS patients to congenital glaucoma (9). avoid visual
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