Two Cases of Leigh Syndrome in One Family : Diagnostic Challenges and Clinical Management Experience in Latvia

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dc.contributor.authorKatkevica, Arta
dc.contributor.authorKreile, Madara
dc.contributor.authorGrinfelde, Ieva
dc.contributor.authorTaurina, Gita
dc.contributor.authorMicule, Ieva
dc.contributor.authorDzivite-Krisane, Iveta
dc.contributor.authorSmite-Laguna, Arta
dc.contributor.authorMalniece, Ieva
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2022-01-18T08:45:01Z
dc.date.available2022-01-18T08:45:01Z
dc.date.issued2021
dc.descriptionPublisher Copyright: © 2021 Arta Katkevica et al.
dc.description.abstractLeigh syndrome is a neurodegenerative disorder with an incidence of 1: 40,000 live births. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. There is no effective treatment for this condition; as such, the prognosis of this condition is very poor with death occurring within the first few years of life. In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. The difficulties encountered establishing a diagnosis for the first proband and the effective prenatal diagnosis for the second offspring that led to termination of the pregnancy are discussed.en
dc.description.statusPeer reviewed
dc.format.extent1186573
dc.identifier.citationKatkevica, A, Kreile, M, Grinfelde, I, Taurina, G, Micule, I, Dzivite-Krisane, I, Smite-Laguna, A & Malniece, I 2021, 'Two Cases of Leigh Syndrome in One Family : Diagnostic Challenges and Clinical Management Experience in Latvia', Case Reports in Medicine, vol. 2021, 5266820. https://doi.org/10.1155/2021/5266820
dc.identifier.doi10.1155/2021/5266820
dc.identifier.issn1687-9627
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/7213
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85120860560&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofCase Reports in Medicine
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral Medicine
dc.titleTwo Cases of Leigh Syndrome in One Family : Diagnostic Challenges and Clinical Management Experience in Latviaen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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