Different disorders causing leigh syndrome-two case series

Abstract

Aim and Objective: To study the neuroimaging findings of Leigh syndrome with complex I and II deficiency in infants. Materials & Methods: We present two cases; children aged 3 years and 15 months. Patients underwent MRI brain scans after taking proper consent. Result: First patient showed imaging features of less common complex I deficiency with extensive white matter hyperintensities with areas of cavitation and high lipid and lactate peaks on MRS in 3 year old male, with complaints of developmental delay , fever and dystonia. Second patient showed imaging findings of a rarer complex II deficiency due to succinate dehydrogenase deficiency with diffuse periventricular & deep cerebral white matter, callosal and thalami T2 hyperintensities with decreased ADC values, sparing of basal ganglia and characteristic succinate peak along with inverted lactate peak on MRS in a 15 month old child, with complaints of developmental delay and ataxia.