31 July 2024
: Case report
Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study
Challenging differential diagnosis, Rare disease
Rama Krishna Narra1ABCDEFG*, Reshma Vemuri2BCDOI: 10.12659/AJCR.944514
Am J Case Rep 2024; 25:e944514
Figure 1. Axial T2W images of brain in a 2-year-old boy with Leigh disease and SURF1 mutation demonstrating hyperintense signals in A) posterior lentiform nucleus(white arrow), B) subthalamic nucleus(white arrow), C) substantia nigra(white arrow) and red nucleus (black arrow), D) dentate nucleus(white arrow) and lemniscus(black arrow), E) olivary nuclei(white arrow), and F) medial lemnisci.