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Child's Nervous System
Published in: Child's Nervous System 11/2016

01-11-2016 | Review Paper

The many faces of paediatric mitochondrial disease on neuroimaging

Authors: Fabian Baertling, Dirk Klee, Tobias B. Haack, Holger Prokisch, Thomas Meitinger, Ertan Mayatepek, Jörg Schaper, Felix Distelmaier

Published in: Child's Nervous System | Issue 11/2016

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Abstract

The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is rapidly growing. As a consequence, the range of neuroimaging findings associated with mitochondrial diseases became extremely broad. This has important implications for radiologists and clinicians involved in the care of these patients. Here, we provide a condensed overview of brain magnetic resonance imaging (MRI) findings in children with genetically confirmed mitochondrial diseases. The neuroimaging spectrum ranges from classical Leigh syndrome with symmetrical lesions in basal ganglia and/or brain stem to structural abnormalities including cerebellar hypoplasia and corpus callosum dysgenesis. We highlight that, although some imaging patterns can be suggestive of a genetically defined mitochondrial syndrome, brain MRI-based candidate gene prioritization is only successful in a subset of patients.
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Metadata
Title
The many faces of paediatric mitochondrial disease on neuroimaging
Authors
Fabian Baertling
Dirk Klee
Tobias B. Haack
Holger Prokisch
Thomas Meitinger
Ertan Mayatepek
Jörg Schaper
Felix Distelmaier
Publication date
01-11-2016
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 11/2016
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-016-3190-3

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