Leigh's disease, a fatal finding in the common world: A case report

Abstract

Leigh syndrome is a neurodegenerative mitochondrial disorder of childhood characterized by symmetrical spongiform lesions in the brain. The clinical presentation of Leigh's syndrome can vary significantly. However, in the majority of cases, it usually presents as a progressive neurological disease involving motor and cognitive development. It is common to see signs and symptoms of the midbrain and brainstem involvement. Limited data are present on the brain processes occurring in Leigh's syndrome which can be attributed to fatal respiratory failure. Raised lactate levels in the blood and/or cerebrospinal fluid are noted. Magnetic resonance imaging (MRI) findings such as necrotic, symmetrical lesions in the BG/brain stem are helpful in arriving at the diagnosis of Leigh's syndrome. It's of utmost importance to determine whether fatal respiratory failure can be predicted based on clinical characteristics and findings on MRI. In our report, we presented 3 cases from rural India, including a 2-year-old male child presenting with UMN lesion signs, a 3-month-old female infant with delayed developmental milestones with lab results suggestive of Leigh's disease, and a 12-year-old female child with epistaxis and generalized weakness. As discussed above, all 3 cases presented differently with a variety of signs and symptoms and would have gone undiagnosed without the use of brain imaging. The study concluded with the impression that while MRI is essential to the initial diagnosis of Leigh's disease, MRI alone cannot be used to predict fatal respiratory failure in patients with Leigh's disease. In any dilemma regarding diagnosis even with MRI, molecular studies remain the gold standard.