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

Arta Katkevica; Madara Kreile; Ieva Grinfelde; Gita Taurina; Ieva Micule; Iveta Dzivite-Krisane; Arta Smite-Laguna; Ieva Malniece

doi:10.1155/2021/5266820

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

Case Rep Med. 2021 Nov 26:2021:5266820. doi: 10.1155/2021/5266820. eCollection 2021.

Authors

Arta Katkevica¹, Madara Kreile^{1

2}, Ieva Grinfelde², Gita Taurina², Ieva Micule², Iveta Dzivite-Krisane^{1

2}, Arta Smite-Laguna², Ieva Malniece²

Affiliations

¹ Riga Stradiņš University, Riga, Latvia.
² Childen's Clinical University Hospital, Riga, Latvia.

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.

Publication types

Case Reports