Leigh Syndrome in a Filipino Child: A Case Report

Introduction: Leigh disease and Leigh-like syndrome are a heterogenous group of neurodegenerative disorders involving any level the neuraxis may present with variety clinical presentations, prominent among them is psychomotor regression. Despite remarkable number established genes novel mutations being discovered, many cases remain without genetic diagnosis, indicating that there still more to be identified. Case: Here we case two half-year-old girl who presented delayed acquisition developmental milestones subsequent regression, ataxia, dyskinesia. Her work-up showed raised blood lactate levels peak in MR spectroscopy. Mitochondria genome absence mitochondrial DNA mutation, while whole exome sequence analysis revealed dynein gene variant, p.A1577S. parents underwent testing as well, her father also had same however, non-symptomatic. She an older brother initially ophthalmoplegia eventually developed He subsequently expired from respiratory failure after almost 2 years initial presentation. Both siblings were diagnosed syndrome. Conclusion: The diagnosis remains based on characteristic radiologic findings. However, specific defect must identified if reliable counseling provided.