Leigh disease is a mitochondrial encephalopathy characterized by bilateral symmetric involvement of the brainstem and basal ganglia. SURF1 variants demonstrate restricted diffusion and symmetric T2/FLAIR hyperintensity of the substantia nigra, periaqueductal gray, and inferior olivary nuclei. MORC2 mutations, though primarily affecting the peripheral nervous system (causing Charcot–Marie–Tooth disease, spinal muscular atrophy–like features, and DIGFAN syndrome), can present with Leigh-like MRI patterns, leading to diagnostic uncertainty. Distinguishing these entities on MRI is essential for targeted genetic testing and counseling. The purpose of this study is to compare MRI findings of a child with a confirmed MORC2 mutation to those of SURF1-variant Leigh disease, highlighting overlapping and distinguishing brainstem features that aid differential diagnosis. Read More

Meeting name: SPR 2026 Annual Meeting , 2026

Authors: Yadav Ratan, Subramanian Subramanian

Keywords: Genetics, MRI Brain, Mitochondrial Disease