NDUFS8 -Related Leigh Syndrome Mimicking a Leukodystrophy.

This article focuses on a case of Leigh syndrome, a progressive infantile neurodegenerative disorder caused by mitochondrial dysfunction, highlighting a novel homozygous variant in the nuclear gene NDUFS8. Typically associated with basal ganglia and brainstem lesions, Leigh syndrome in this case presented with predominant confluent cerebral white matter disease, expanding the known neuroimaging spectrum of the disorder. The 6-month-old patient exhibited motor regression, lactic acidosis, and extensive white matter abnormalities on MRI, initially suggestive of leukodystrophy, but genetic testing confirmed NDUFS8-related Leigh syndrome. The report underscores the importance of considering mitochondrial disorders in the differential diagnosis of early childhood white matter disease and the value of comprehensive genetic testing including nuclear and mitochondrial genes.