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

Arta Katkevica | Zendy; Madara Kreile | Zendy; Ieva Grīnfelde | Zendy; Gita Tauriņa | Zendy; Ieva Mičule | Zendy; Iveta Dzīvīte-Krišāne | Zendy; Arta Smite-Laguna | Zendy; Ieva Mālniece | Zendy

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

Author(s) -

Arta Katkevica,

Madara Kreile,

Ieva Grīnfelde,

Gita Tauriņa,

Ieva Mičule,

Iveta Dzīvīte-Krišāne,

Arta Smite-Laguna,

Ieva Mālniece

Publication year - 2021

Publication title -

case reports in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.2

H-Index - 20

eISSN - 1687-9627

pISSN - 1687-9635

DOI - 10.1155/2021/5266820

Subject(s) - proband , disease , pediatrics , offspring , medicine , incidence (geometry) , pregnancy , psychiatry , pathology , biology , genetics , physics , gene , optics , mutation

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.

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