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

Two Cases of Leigh Disease

Leigh Disease, or subacute necrotizing encephalopathy (SNE), is a degenerative disorder characterized by lesions of the gray and white matter in the bran and spinal cord. The pathogenesis was known as mitochondrial enzyme defect of the respiratory chain system. We experienced 2 cases of Leigh disease. The first case, a seven-month old girl who was presented with weak respiration and failure to thrive, showed lactic acidemia and increased lactic acid in CSF fluid, high signal intensity in the bilateral putamen and head of caudate of nucleus at T2 weighted MR imaging. The second case, a 3-year-old girl with ataxic gait and bilateral ptosis also showed lactic acidemia, increased lactic acid in CSF fluid and high signal intensity in the bilateral basal ganglia. Respiratory difficuly developed in both cases and died within 1 month after visiting our hospital. The diagnosis was made by lactic acidosis and specific MRI finding. We report these cases with a brief review of its related literature.