Cerebral imaging in adult mitochondrial disorders.

OBJECTIVES

Among the organs/tissues affected in mitochondrial disorders (MIDs), the brain is the second most frequently affected. Cerebral imaging may correlate with clinical findings but not necessarily. This review summarises and discusses current knowledge and recent advances concerning cerebral abnormalities on imaging in adult MIDs (≥18y).

METHODS

Systematic literature review.

RESULTS

The most common cerebral abnormalities in imaging in adult MIDs are, as in pediatric MIDs, white matter lesions, grey matter lesions, atrophy, optic atrophy, stroke-like lesions, calcifications, and ischemic stroke. Cerebral lesions may remain stable over years but some may undergo dynamic changes within shorter or longer period of times. Typical dynamic lesions are stroke-like lesions and grey matter lesions in the sense of progression or regression. Since cerebral lesions on imaging may or may not go along with clinical manifestations, it is crucial to screen all MID patients for cerebral involvement, which can be effectively accomplished by application of the MRI.

CONCLUSIONS

Cerebral imaging is of paramount importance for diagnosing and monitoring cerebral involvement in MIDs. Cerebral imaging in MIDs contributes to the understanding of the pathogenesis of cerebral involvement in MIDs.