Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Journal
Case reports in medicine
ISSN: 1687-9627
Titre abrégé: Case Rep Med
Pays: United States
ID NLM: 101512910
Informations de publication
Date de publication:
2021
2021
Historique:
received:
20
04
2021
accepted:
12
11
2021
entrez:
6
12
2021
pubmed:
7
12
2021
medline:
7
12
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34868319
doi: 10.1155/2021/5266820
pmc: PMC8641989
doi:
Types de publication
Case Reports
Langues
eng
Pagination
5266820Informations de copyright
Copyright © 2021 Arta Katkevica et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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