Please use this identifier to cite or link to this item:
10.1155/2021/5266820
Title: | Two Cases of Leigh Syndrome in One Family : Diagnostic Challenges and Clinical Management Experience in Latvia |
Authors: | Katkevica, Arta Kreile, Madara Grinfelde, Ieva Taurina, Gita Micule, Ieva Dzivite-Krisane, Iveta Smite-Laguna, Arta Malniece, Ieva Rīga Stradiņš University |
Keywords: | 3.2 Clinical medicine;3.1 Basic medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;General Medicine |
Issue Date: | 2021 |
Citation: | Katkevica , 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 |
Abstract: | Leigh 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. |
Description: | Publisher Copyright: © 2021 Arta Katkevica et al. |
DOI: | 10.1155/2021/5266820 |
ISSN: | 1687-9627 |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
File | Size | Format | |
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Two_Cases_of_Leigh_Syndrome_in_One_Family.pdf | 1.16 MB | Adobe PDF | View/Open |
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