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

Arta Katkevica (Corresponding Author), Madara Kreile, Ieva Grinfelde, Gita Taurina, Ieva Micule, Iveta Dzivite-Krisane, Arta Smite-Laguna, Ieva Malniece

Rīga Stradiņš University

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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.

Original language	English
Article number	5266820
Journal	Case Reports in Medicine
Volume	2021
DOIs	https://doi.org/10.1155/2021/5266820
Publication status	Published - 2021

Field of Science*

3.2 Clinical medicine
3.1 Basic medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

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10.1155/2021/5266820

Two Cases of Leigh Syndrome in One FamilyFinal published version, 1.13 MBLicence: CC BY

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title = "Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in 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. ",

author = "Arta Katkevica and Madara Kreile and Ieva Grinfelde and Gita Taurina and Ieva Micule and Iveta Dzivite-Krisane and Arta Smite-Laguna and Ieva Malniece",

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T2 - Diagnostic Challenges and Clinical Management Experience in Latvia

AU - Katkevica, Arta

AU - Kreile, Madara

AU - Grinfelde, Ieva

AU - Taurina, Gita

AU - Micule, Ieva

AU - Dzivite-Krisane, Iveta

AU - Smite-Laguna, Arta

AU - Malniece, Ieva

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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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VL - 2021

JO - Case Reports in Medicine

JF - Case Reports in Medicine

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ER -

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

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