ReviewChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2016
The many faces of paediatric mitochondrial disease on neuroimaging.
Review in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- MRI predictors of long-term outcomes of neonatal hypoxic ischaemic encephalopathy: a primer for radiologists.The British journal of radiology · 2024Review
- Leukodystrophy Associated with Mitochondrial Complex 1 Deficiency Due to Mutation in NUBPL Gene-An Unusual Follow-Up Finding.The Indian journal of radiology & imaging · 2023Article
- Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Molecular genetics and metabolism reports · 2022Article
- Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.Development (Cambridge, England) · 2022Article
- Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.Journal of medical genetics · 2022Article
- Imaging Patterns Characterizing Mitochondrial Leukodystrophies.AJNR. American journal of neuroradiology · 2021Article
- Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.Brain sciences · 2020Review
- Molecular basis of Leigh syndrome: a current look.Orphanet journal of rare diseases · 2020Review
- Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.Journal of neuromuscular diseases · 2020Review
- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.JIMD reports · 2017Article
- Article
- Cerebral involvement in mitochondrial disorders on imaging.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
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8 authors.
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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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.