Leigh Syndrome in a Filipino Child: A case report.
10.35460/2546-1621.2021-0015
- Author:
Michelle G. SY
1
;
Ma. Antonia Aurora MORAL-VALENCIA
1
Author Information
1. Section of Child Neurology and Developmental Medicine, The Department of Pediatrics and The Department of Neuroscience and Behavioral Medicine, University of Santo Tomas Hospital, Manila, Philippines
- Publication Type:Case Reports
- Keywords:
Case Report|mitochondrial Disorder|subacute Necrotizing Encephalopathy
- MeSH:
Neurodegenerative Diseases|leigh Disease
- From:
Journal of Medicine University of Santo Tomas
2022;6(2):1027-1038
- CountryPhilippines
- Language:English
-
Abstract:
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.
- Full text:Leigh Syndrome.pdf
