Leigh Syndrome Case Study

Leigh Syndrome: Case Series of Three Patients

Purpose
Leigh syndrome is a rare progressive neurodegenerative disorder with a poor prognosis. Typical imaging findings are one of the diagnostic criteria and may prompt the clinician to investigate for Leigh syndrome. To describe those characteristic magnetic resonance imaging (MRI) findings as well as clinical presentation, we present 3 cases of pediatric patients who met diagnostic criteria for Leigh syndrome at our institute in the last 5 years.

Case 1
This is a 3-year-old boy presented with progressive muscle weakness and respiratory failure. He is the only child, born at full-term with uneventful perinatal period. No family history of consanguinity or neurological problem was reported. He had frequent vomiting and choking since age of 6 months. At age of 18 months, his psychomotor development had progressively regressed and he lost his ability to either walk or stand independently. He subsequently developed respiratory failure required intubation and mechanical ventilation. Physical examination revealed bilateral ophthalmoplegia, right facial palsy (UMN type), generalized hypotonia and weakness at grade 2/5, generalized hyperreflexia, and present

Most of them are responsible for energy production in mitochondria by reducing or eliminating the action of the protein complexes in ATP production. Decrease in cellular energy may lead to cell death, especially in the tissue that requires large amount of energy, e.g. brain, heart and muscles. Two of the most frequently mutated genes in Leigh syndrome are SURF1 gene and MT-ATP6