Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome

Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome Elia Cipriano, Domizia Vecchio, Letizia Mazzini, Gionata Strigaro, and 5 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-2570257/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 01 Jun, 2023 Read the published version in SN Comprehensive Clinical Medicine → Version 1 posted 4 You are reading this latest preprint version Abstract Introduction: Leigh syndrome a progressive, lethal, mitochondrial disease. Case Presentation: We report the case of an adult man in his 40s presenting to the Emergency Department showing: dysarthria, oculomotor limitations for downgaze and convergence, mild right hemiparesis with Babinski sign and absent lower limb tendon reflexes. He revealed about walking difficulties since the age of 20-25. Family history was unremarkable. A brain magnetic resonance showed diffuse white matter lesions involving the area around the third ventricle, the medulla oblongata, and the bilateral caudate and putamen without contrast enhancement. Conclusions: Polymerase-chain-reaction amplification of the mitochondrial genes, followed by direct sequencing, found a 10191T>C variant related to Leigh syndrome. Leigh syndrome mostly occurring mostly in childhood, there are only other 8 late-onset cases described sharing the same pathogenic variant. LS or subacute necrotizing encephalomyelopathy is a progressive, lethal, mitochondrial disease mostly occurring in childhood. Only other 8 late-onset cases share the same pathogenic variant, i.e. 10191T>C. Leigh syndrome Leigh-like syndrome m.10191T>C mutation Late onset Leigh syndrome Full Text Cite Share Download PDF Status: Published Journal Publication published 01 Jun, 2023 Read the published version in SN Comprehensive Clinical Medicine → Version 1 posted Reviewers agreed at journal 20 Feb, 2023 Editor assigned by journal 17 Feb, 2023 First submitted to journal 16 Feb, 2023 Editorial decision: Major revisions 14 Feb, 2023 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-2570257","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":177430552,"identity":"df999347-e657-4f18-aba1-8b36dbca2974","order_by":0,"name":"Elia Cipriano","email":"data:image/png;base64,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","orcid":"https://orcid.org/0000-0003-0911-3039","institution":"University of Eastern Piedmont: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":true,"prefix":"","firstName":"Elia","middleName":"","lastName":"Cipriano","suffix":""},{"id":177430553,"identity":"cd132154-711b-4543-be60-2ed5cbc3b1dd","order_by":1,"name":"Domizia Vecchio","email":"","orcid":"","institution":"University of Eastern Piedmont: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":false,"prefix":"","firstName":"Domizia","middleName":"","lastName":"Vecchio","suffix":""},{"id":177430554,"identity":"c220c0d1-f7b9-4c1c-9e1d-a78d83a85fd9","order_by":2,"name":"Letizia Mazzini","email":"","orcid":"","institution":"University of Eastern Piedmont: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":false,"prefix":"","firstName":"Letizia","middleName":"","lastName":"Mazzini","suffix":""},{"id":177430555,"identity":"4fa846e8-167f-43cb-bd0f-b08d1575b2b2","order_by":3,"name":"Gionata Strigaro","email":"","orcid":"","institution":"University of Eastern Piedmont: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":false,"prefix":"","firstName":"Gionata","middleName":"","lastName":"Strigaro","suffix":""},{"id":177430556,"identity":"0444cc5c-b1c9-474a-b2fb-47dcfdc13d05","order_by":4,"name":"Daniela Piga","email":"","orcid":"","institution":"Policlinico di Milano: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","correspondingAuthor":false,"prefix":"","firstName":"Daniela","middleName":"","lastName":"Piga","suffix":""},{"id":177430557,"identity":"e12490ef-5dde-4f82-9d11-d042fb6e688b","order_by":5,"name":"Monica Sciacco","email":"","orcid":"","institution":"Policlinico di Milano: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","correspondingAuthor":false,"prefix":"","firstName":"Monica","middleName":"","lastName":"Sciacco","suffix":""},{"id":177430558,"identity":"bc05feae-a566-4859-b2df-6d3011c08b8e","order_by":6,"name":"Giacomo Comi","email":"","orcid":"","institution":"Policlinico di Milano: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","correspondingAuthor":false,"prefix":"","firstName":"Giacomo","middleName":"","lastName":"Comi","suffix":""},{"id":177430559,"identity":"c28794fe-22c5-42b6-a675-cb9760f72b5f","order_by":7,"name":"Egidio Genovese","email":"","orcid":"","institution":"Università degli Studi del Piemonte Orientale Amedeo Avogadro: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":false,"prefix":"","firstName":"Egidio","middleName":"","lastName":"Genovese","suffix":""},{"id":177430560,"identity":"a9765ad3-ac6e-4a9c-bdd5-5c64721a7cd8","order_by":8,"name":"Roberto Cantello","email":"","orcid":"","institution":"Università degli Studi del Piemonte Orientale Amedeo Avogadro: Universita degli Studi del Piemonte Orientale Amedeo Avogadro","correspondingAuthor":false,"prefix":"","firstName":"Roberto","middleName":"","lastName":"Cantello","suffix":""}],"badges":[],"createdAt":"2023-02-09 19:32:09","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-2570257/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-2570257/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s42399-023-01496-y","type":"published","date":"2023-06-01T21:01:38+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":44731368,"identity":"3e62de5e-61f1-4edd-88de-2865cc16486d","added_by":"auto","created_at":"2023-10-16 21:42:12","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":350161,"visible":true,"origin":"","legend":"","description":"","filename":"SNComprehensiveClinicalMedicineCaseReport.pdf","url":"https://assets-eu.researchsquare.com/files/rs-2570257/v1_covered_096d37eb-7507-4cce-bb77-ca8fee5fbb72.pdf"}],"financialInterests":"","formattedTitle":"Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"sn-comprehensive-clinical-medicine","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"sncm","sideBox":"Learn more about [SN Comprehensive Clinical Medicine](https://www.springer.com/journal/42399)","snPcode":"42399","submissionUrl":"https://submission.nature.com/new-submission/42399/3","title":"SN Comprehensive Clinical Medicine","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Leigh syndrome, Leigh-like syndrome, m.10191T\u003eC mutation, Late onset Leigh syndrome,","lastPublishedDoi":"10.21203/rs.3.rs-2570257/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-2570257/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eIntroduction:\u003c/strong\u003e Leigh syndrome a progressive, lethal, mitochondrial disease.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase Presentation:\u003c/strong\u003e We report the case of an adult man in his 40s presenting to the Emergency Department showing: dysarthria, oculomotor limitations for downgaze and convergence, mild \u0026nbsp;right hemiparesis with Babinski sign and absent lower limb tendon reflexes. He revealed about \u0026nbsp;walking difficulties since the age of 20-25. Family history was unremarkable. A brain magnetic resonance showed diffuse white matter lesions involving the area around the \u0026nbsp;third ventricle, the medulla oblongata, and the bilateral caudate and putamen without contrast \u0026nbsp;enhancement. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions: \u003c/strong\u003ePolymerase-chain-reaction amplification of the mitochondrial genes, followed by \u0026nbsp;direct sequencing, found a 10191T\u0026gt;C variant related to Leigh syndrome. Leigh syndrome mostly \u0026nbsp;occurring mostly in childhood, there are only other 8 late-onset cases described sharing the same \u0026nbsp;pathogenic variant. LS or subacute necrotizing encephalomyelopathy is a progressive, lethal, \u0026nbsp;mitochondrial disease mostly occurring in childhood. Only other 8 late-onset cases share the same \u0026nbsp;pathogenic variant, i.e. 10191T\u0026gt;C.\u003c/p\u003e","manuscriptTitle":"Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2023-02-22 05:55:53","doi":"10.21203/rs.3.rs-2570257/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"reviewerAgreed","content":"","date":"2023-02-20T10:28:29+00:00","index":0,"fulltext":""},{"type":"editorAssigned","content":"","date":"2023-02-17T06:34:57+00:00","index":"","fulltext":""},{"type":"submitted","content":"SN Comprehensive Clinical Medicine","date":"2023-02-16T05:22:49+00:00","index":"","fulltext":""},{"type":"decision","content":"Major revisions","date":"2023-02-14T05:57:10+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"sn-comprehensive-clinical-medicine","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"sncm","sideBox":"Learn more about [SN Comprehensive Clinical Medicine](https://www.springer.com/journal/42399)","snPcode":"42399","submissionUrl":"https://submission.nature.com/new-submission/42399/3","title":"SN Comprehensive Clinical Medicine","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"49105539-73c8-48dd-a20a-bec2699c0f5c","owner":[],"postedDate":"February 22nd, 2023","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2023-10-16T21:26:15+00:00","versionOfRecord":{"articleIdentity":"rs-2570257","link":"https://doi.org/10.1007/s42399-023-01496-y","journal":{"identity":"sn-comprehensive-clinical-medicine","isVorOnly":false,"title":"SN Comprehensive Clinical Medicine"},"publishedOn":"2023-06-01 21:01:38","publishedOnDateReadable":"June 1st, 2023"},"versionCreatedAt":"2023-02-22 05:55:53","video":"","vorDoi":"10.1007/s42399-023-01496-y","vorDoiUrl":"https://doi.org/10.1007/s42399-023-01496-y","workflowStages":[]},"version":"v1","identity":"rs-2570257","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-2570257","identity":"rs-2570257","version":["v1"]},"buildId":"_2-kVJe1T_tPrBINL-cwx","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}