The many faces of paediatric mitochondrial disease on neuroimaging.
Childs Nerv. Syst. 32, 2077-2083 (2016)
Mitochondrial OXPHOS Magnetic resonance imaging Leigh syndromeThe 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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Publikationstyp Artikel: Journalartikel
Schlagwörter Mitochondrial; OXPHOS; Magnetic resonance imaging; Leigh syndrome; Complex I Deficiency; Stroke-like Episodes; Leigh-syndrome; Mr Spectroscopy; Melas Syndrome; Brain; Mutations; Neuropathology; Pathogenesis; Disorder
ISSN (print) / ISBN 0256-7040
Zeitschrift Child's nervous system
Quellenangaben Band: 32, Heft: 11, Seiten: 2077-2083
Verlagsort Berlin; Heidelberg
Institut(e) Institute of Human Genetics (IHG)