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      Undiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia

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          Abstract

          Sturge-Weber syndrome is a rare, sporadic, progressive neurocutaneous condition that presents with congenital hamartomatous malformations, epilepsy, and a variety of facial symptoms. We discussed a rare case of an eighteen-year-old female child who came to our neurology department with status epilepticus, mental impairment, and a port-wine in the lateral left side of her face. We diagnosed Sturge-Weber syndrome after a thorough neurological and radiological evaluation. The purpose of presenting this case is to illustrate both the characteristic presentation and the complications associated with managing Sturge-Weber syndrome.

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          New vascular classification of port-wine stains: improving prediction of Sturge–Weber risk

          R Waelchli, SE Aylett, Scott Robinson … (2014)
          Summary Background Facial port-wine stains (PWSs) are usually isolated findings; however, when associated with cerebral and ocular vascular malformations they form part of the classical triad of Sturge–Weber syndrome (SWS). Objectives To evaluate the associations between the phenotype of facial PWS and the diagnosis of SWS in a cohort with a high rate of SWS. Methods Records were reviewed of all 192 children with a facial PWS seen in 2011–13. Adverse outcome measures were clinical (seizures, abnormal neurodevelopment, glaucoma) and radiological [abnormal magnetic resonance imaging (MRI)], modelled by multivariate logistic regression. Results The best predictor of adverse outcomes was a PWS involving any part of the forehead, delineated at its inferior border by a line joining the outer canthus of the eye to the top of the ear, and including the upper eyelid. This involves all three divisions of the trigeminal nerve, but corresponds well to the embryonic vascular development of the face. Bilateral distribution was not an independently significant phenotypic feature. Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution; however, for practical reasons guidelines based on clinical phenotype are proposed. Conclusions Facial PWS distribution appears to follow the embryonic vasculature of the face, rather than the trigeminal nerve. We propose that children with a PWS on any part of the ‘forehead’ should have an urgent ophthalmology review and a brain MRI. A prospective study has been established to test the validity of these guidelines. What’s already known about this topic? Facial port-wine stains (PWSs) are common, but are rarely associated with Sturge–Weber syndrome (SWS). Early diagnosis of SWS is important to reduce ophthalmological and neural complications. Bilateral and ophthalmic division trigeminal nerve PWSs are thought to confer higher risk of SWS. What does this study add? The strongest predictor of SWS was found using a new classification of PWS based on the vascular embryological distribution and not the neural innervation of the face. We propose new guidelines for investigation of children with facial PWS based on this new classification of phenotype.
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            The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation

            Vi Nguyen, Marcelo Hochman, Martin C. Mihm … (2019)
            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.
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              Sturge-Weber syndrome: from the past to the present.

              Annapurna Sudarsanam, Simone L Ardern-Holmes (2014)
              Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with both Sturge-Weber syndrome and non-syndromic facial port-wine stain. Sturge-Weber syndrome is marked by a variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. More recently, the increased prevalance of otolaryngological, endocrine and emotional-behavioural issues have been established. Neurophysiology and neuroimaging studies provide information regarding the evolution of changes in Sturge-Weber syndrome over time. Early recognition and aggressive management of symptoms remains cornerstone in the management of this syndrome. An international collaborative effort is needed to maximise our understanding of the natural history and response to interventions in Sturge-Weber Syndrome.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int Med Case Rep J
                Journal ID (iso-abbrev): Int Med Case Rep J
                Journal ID (publisher-id): imcrj
                Title: International Medical Case Reports Journal
                Publisher: Dove
                ISSN (Electronic): 1179-142X
                Publication date (Electronic): 25 June 2024
                Publication date Collection: 2024
                Volume: 17
                Pages: 621-625
                Affiliations
                [1 ]Department of Neurology, Mogadishu-Somalia Turkey Recep Tayyip Erdoğan Training and Research Hospital , Mogadishu, Somalia
                [2 ]Faculty of Medicine and Surgery, Jazeera University , Mogadishu, Somalia
                [3 ]Faculty of Medicine and Surgery, Mogadishu University , Mogadishu, Somalia
                [4 ]Department of Ophthalmology, Mogadishu-Somalia Turkey Recep Tayyip Erdoğan Training and Research Hospital , Mogadishu, Somalia
                Author notes
                Correspondence: Nor Osman Sidow, Tel +252618300616, Email ziidoow113@gmail.com
                Author information
                http://orcid.org/0000-0002-6039-5054
                http://orcid.org/0000-0002-8592-2113
                http://orcid.org/0000-0001-7236-1524
                http://orcid.org/0000-0001-8215-1918
                http://orcid.org/0009-0001-6729-1311
                Article
                Publisher ID: 463858
                DOI: 10.2147/IMCRJ.S463858
                PMC ID: 11215277
                PubMed ID: 38952480
                SO-VID: 53a24dc2-21c5-4336-b553-b2687fd36509
                Copyright © © 2024 Mohamed et al.
                License:

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                History
                Date received : 09 April 2024
                Date accepted : 23 June 2024
                Page count
                Figures: 3, References: 17, Pages: 5
                Categories
                Subject: Case Report

                Keywords: sturge-weber,seizure,port-wine
                Data availability:
                Keywords: sturge-weber, seizure, port-wine

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