Figure 1.

Pathognomic findings in mitochondrial disorders

a) LHON: central scotoma from the patient’s perspective

b) MELAS: cortical T2 hyperintensity on cMRT in the case of fresh stroke-like episode

c) MELAS: cardiac involvement; the four-chamber view shows marked concentric left ventricular hypertrophy with contrast uptake (red arrows) consistent with myocardial fibrosis

d) Leigh syndrome: symmetrical signal changes in the brainstem

cMRT, cranial magnetic resonance imaging; LHON, Leber hereditary optic neuropathy; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes