Objectives: Because the central nervous system (CNS) is the second most frequently affected organ in mitochondrial disorders (MIDs) and since paediatric MIDs are increasingly recognised, it is important to know about the morphological CNS abnormalities on imaging in these patients. This review aims at summarising and discussing current knowledge and recent advances concerning CNS imaging abnormalities in paediatric MIDs.
Methods: A systematic literature review was conducted.
Results: The most relevant CNS abnormalities in paediatric MIDs on imaging include white and grey matter lesions, stroke-like lesions as the morphological equivalent of stroke-like episodes, cerebral atrophy, calcifications, optic atrophy, and lactacidosis. Because these CNS lesions may be seen with or without clinical manifestations, it is important to screen all MID patients for cerebral involvement. Some of these lesions may remain unchanged for years whereas others may be dynamic, either in the sense of progression or regression. Typical dynamic lesions are stroke-like lesions and grey matter lesions. Clinically relevant imaging techniques for visualisation of CNS abnormalities in paediatric MIDs are computed tomography, magnetic resonance (MR) imaging, MR spectroscopy, single-photon emission computed tomography, positron-emission tomography, and angiography.
Conclusions: CNS imaging in paediatric MIDs is important for diagnosing and monitoring CNS involvement. It also contributes to the understanding of the underlying pathomechanisms that lead to CNS involvement in MIDs.
Keywords: Respiratory chain; brain; central nervous system; cerebrum; encephalomyopathy; mitochondrial; mitochondrion; multi-system disease; oxidative phosphorylation; spinal cord.