Highlights
- •The most common cerebral abnormalities on imaging in adult MIDs are white matter lesions, grey matter lesions, atrophy, optic atrophy, stroke-like lesions, and calcifications.
- •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.
Abstract
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.
Keywords
Abbreviations:
AHD (Alpers Huttenlocher disease), CPEO (Chronic progressive external ophthalmoplegia), CCT (Cerebral compute tomography), DNA (Deoxyribonucleic acid), FLAIR (Fluid-attenuated inversion recovery), GML (Grey matter lesion), KSS (Kearns Sayre syndrome), LBSL (Leucoencephalopathy with brain stem and spinal cord involvement and lactic acidosis), LCN (Laminar cortical necrosis), LHON (Leber's hereditary optic neuropathy), LS (Leigh syndrome), MDS (Mitochondrial depletion syndrome), MELAS (Mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes), MERRF (Myoclonic epilepsy with ragged red fibers), MID (Mitochondrial disorder), MILS (Maternally inherited Leigh syndrome), MIMODS (Mitochondrial multiorgan disorder syndrome), MNGIE (Mitochondrial neuro-gastro-intestinal encephalopathy), MPAN (Mitochondrial membrane protein associated neurodegeneration), MRI (Magnetic resonance imaging), MRS (Magnetic resonance spectroscopy), NARP (Neurogenic muscle weakness, ataxia, and retinitis pigmentosa), PCH-6 (Pontocerebellar hypoplasia type-6), PDH (Pyruvat-dehydrogenase), PS (Pearson syndrome), SCA (Spinocerebellar ataxia), SL-episode (Stroke-like episode), SLL (Stroke-like-lesion), WMLs (White matter lesions)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: July 10, 2019
Accepted:
July 9,
2019
Received in revised form:
June 6,
2019
Received:
April 21,
2019
Identification
Copyright
© 2019 Elsevier B.V. All rights reserved.
