Journal of Genetic Syndromes & Gene Therapy
Open Access

Abstract

PEO Associated with a Novel POLG Mutation in a Pediatric Patient in the United Arab Emirates

Omar Jarrah*, Ola Shahrour, Mahmood Noori, Shoroogh Marei, Duaa Abu Nawas, Najla Alkuwaiti, Noura AL Dhaheri

Progressive External Ophthalmoplegia (PEO) is a rare mitochondrial disorder primarily caused by mutations in the POLG gene, responsible for mitochondrial DNA replication and repair. The condition is characterized by muscle weakness, particularly in the extraocular muscles, leading to ptosis, ophthalmoparesis and other visual impairments. This case report presents an 11-year-old Pakistani patient with a novel POLG mutation. The patient exhibited generalized fatigue, muscle weakness, squint and weight loss, raising suspicion for mitochondrial dysfunction. Diagnostic tests, including nerve conduction studies and biochemical panels, pointed toward a potential neuropathic condition. Genetic testing confirmed a homozygous pathogenic variant in the POLG gene, diagnosing autosomal recessive POLG-related disease. This case highlights the importance of early genetic testing and intervention in diagnosing mitochondrial disorders in pediatric patients.

Published Date: 2025-01-18; Received Date: 2024-07-22