Purpose or Case Report: Mitochondrial diseases are a heterogeneous group of disorders caused by defects in intracellular energy production. Due to this heterogeneity, it is not surprising that multiple systematic approaches to diagnosis exist; all of which use a combination of clinical, biochemical and structural criteria. Several distinct syndromes have been recognized with variable clinical and imaging phenotypes, including Leigh's syndrome, Kearns-Sayre syndrome (KSS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS). In this exhibit, we discuss imaging morphology of various mitochondrial disease with emphasis on imaging protocol and diagnostic approach.
Methods & Materials: The various mitochondrial diseases discussed in this exhibit include Leigh syndrome, mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF), BOLA3-associated leukodystrophy, POLG-related disorders, TRMU mutation, short chain acyl coA deficiency (SCADD), and NARP mutation.
Results:
Conclusions: After the exhibit., the reader will be well-versed with the imaging protocol and manifestation of various mitochondrial disease.