NDUFB8 mutation in a neonate with Leigh’s disease

Abstract

The NDUFB8 gene, located at 10q24.31, encodes a nuclear-encoded accessory subunit that is essential for the stability and activity of the mitochondrial complex. In this report, we describe a novel homozygous mutation in the NDUFB8 gene that was associated with mitochondrial complex I deficiency in a neonate with Leigh’s disease. The neonate, born at term to consanguineous parents, suffered from seizures, depressed sensorium, and failure to gain weight at 3 weeks of age. The child was ventilator-dependent and had progressive encephalopathy. His blood and cerebrospinal fluid lactate levels were elevated. Magnetic resonance imaging of the brain showed diffusion restriction in the medulla, basal ganglia, and pericentral cortex. He developed cerebral edema and irreversible brain injury, despite medical treatment for congenital lactic acidosis.