Katkevica Arta, Kreile Madara, Grinfelde Ieva, Taurina Gita, Micule Ieva, Dzivite-Krisane Iveta, Smite-Laguna Arta, Malniece Ieva
Riga Stradiņš University, Riga, Latvia.
Childen's Clinical University Hospital, Riga, Latvia.
Case Rep Med. 2021 Nov 26;2021:5266820. doi: 10.1155/2021/5266820. eCollection 2021.
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.
Leigh综合征是一种神经退行性疾病，活产发病率为1:40000。Leigh综合征的临床表现高度可变，在小脑、运动和锥体外系功能障碍以及常见感染等疾病相关症状方面存在异质性。这种疾病没有有效的治疗方法；因此，这种疾病的预后非常差，通常在生命的头几年内死亡。在本研究中，我们报告了拉脱维亚首例患有SURF1致病变异的Leigh综合征病例，该病例发生在两名兄弟姐妹身上。文中讨论了为首例先证者确诊所遇到的困难，以及为第二个后代进行有效产前诊断并导致终止妊娠的情况。
