He was the second child of nonconsanguineous parents and was born at term after an uneventful pregnancy. His general health condition was evaluated as serious.
![mr children b-side mr children b-side](https://auctions.c.yimg.jp/images.auctions.yahoo.co.jp/image/dr000/auc0204/users/3369ca4dfcb7eb144f19ffd7d7f690325cecb0d5/i-img1200x900-1618036465wpdbki201334.jpg)
Case DescriptionĪ 22-month-old male child was referred to Children’s Clinical University Hospital in Riga from another hospital due to an episode of hypoglycaemia (1.6 mmol/L). Our report details the clinical presentation, the investigation process leading to confirmation with particular emphasis on the underlying genetic heterogeneity, and the available treatment options. In this case report, we present the first molecularly confirmed case of SURF1 LS in Latvia. With a population of approximately 1.9 million (latest data compiled by the Central Statistical Bureau of Latvia, 2019), Latvia yields a small number of LS patients. LS is the most common paediatric mitochondrial disorder with an estimated global prevalence of 1 : 40,000 live births, although it has a relatively higher or lower prevalence in certain populations. The phenotypic heterogeneity of LS makes its diagnosis complicated, which is generally established through biochemical, radiological, and genetic evaluation followed by histological evaluation of the patient. Brainstem dysfunction is the most frequently observed clinical manifestation of the disease. However, in most cases, it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brainstem and/or basal ganglia involvement. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. Coenzyme Q10 deficiency and disturbed pyruvate metabolism are also known causes of LS. Underlying causes can be found in the nuclear DNA or mitochondrial DNA. LS may be associated with deficiency-either isolated or combined-of any oxidative phosphorylation (OXPHOS) enzyme. Leigh syndrome (LS), also referred to as subacute necrotising encephalomyelopathy, was first described by a British psychiatrist and neuropathologist, Denis Archibald Leigh, in 1951.
![mr children b-side mr children b-side](https://prealliance-textbook-qa.oneclass.com/qa_images/homework_help/question/qa_images/115/11565322.png)
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. In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. 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. Leigh syndrome is a neurodegenerative disorder with an incidence of 1 : 40,000 live births.