title: The many faces of paediatric mitochondrial disease on neuroimaging.
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.
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.
authors.forename: Fabian
authors.initials: F
authors.lastname: Baertling
authors.affiliation: Department of Diagnostic and Interventional Radiology, Medical Faculty, University Dusseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Klee
authors.affiliation: Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
authors.forename: Tobias B
authors.initials: TB
authors.lastname: Haack
authors.affiliation: Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Prokisch
authors.affiliation: Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.|Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.affiliation: Department of Diagnostic and Interventional Radiology, Medical Faculty, University Dusseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Schaper
authors.affiliation: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany. Felix.Distelmaier@med.uni-duesseldorf.de.
authors.forename: Felix
authors.initials: F
authors.lastname: Distelmaier
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000473:pathology*; D059906:Neuroimaging
keywords: Leigh syndrome; Magnetic resonance imaging; Mitochondrial; OXPHOS