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Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery....

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Autores principales: Mohammad, Shekeeb S, Angiti, Rajeshwar Reddy, Biggin, Andrew, Morales-Briceño, Hugo, Goetti, Robert, Perez-Dueñas, Belen, Gregory, Allison, Hogarth, Penelope, Ng, Joanne, Papandreou, Apostolos, Bhattacharya, Kaustuv, Rahman, Shamima, Prelog, Kristina, Webster, Richard I, Wassmer, Evangeline, Hayflick, Susan, Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891249/
https://www.ncbi.nlm.nih.gov/pubmed/33629063
http://dx.doi.org/10.1093/braincomms/fcaa178
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author Mohammad, Shekeeb S
Angiti, Rajeshwar Reddy
Biggin, Andrew
Morales-Briceño, Hugo
Goetti, Robert
Perez-Dueñas, Belen
Gregory, Allison
Hogarth, Penelope
Ng, Joanne
Papandreou, Apostolos
Bhattacharya, Kaustuv
Rahman, Shamima
Prelog, Kristina
Webster, Richard I
Wassmer, Evangeline
Hayflick, Susan
Livingston, John
Kurian, Manju
Chong, W Kling
Dale, Russell C
author_facet Mohammad, Shekeeb S
Angiti, Rajeshwar Reddy
Biggin, Andrew
Morales-Briceño, Hugo
Goetti, Robert
Perez-Dueñas, Belen
Gregory, Allison
Hogarth, Penelope
Ng, Joanne
Papandreou, Apostolos
Bhattacharya, Kaustuv
Rahman, Shamima
Prelog, Kristina
Webster, Richard I
Wassmer, Evangeline
Hayflick, Susan
Livingston, John
Kurian, Manju
Chong, W Kling
Dale, Russell C
author_sort Mohammad, Shekeeb S
collection PubMed
description Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1—T(2)-weighted hyperintensities in the putamen; Cluster 2—T(2)-weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3—T(2)-weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4—T(1)-weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T(1)-weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10. Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice.
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spelling pubmed-78912492021-02-23 Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders Mohammad, Shekeeb S Angiti, Rajeshwar Reddy Biggin, Andrew Morales-Briceño, Hugo Goetti, Robert Perez-Dueñas, Belen Gregory, Allison Hogarth, Penelope Ng, Joanne Papandreou, Apostolos Bhattacharya, Kaustuv Rahman, Shamima Prelog, Kristina Webster, Richard I Wassmer, Evangeline Hayflick, Susan Livingston, John Kurian, Manju Chong, W Kling Dale, Russell C Brain Commun Original Article Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1—T(2)-weighted hyperintensities in the putamen; Cluster 2—T(2)-weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3—T(2)-weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4—T(1)-weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T(1)-weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10. Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice. Oxford University Press 2020-10-26 /pmc/articles/PMC7891249/ /pubmed/33629063 http://dx.doi.org/10.1093/braincomms/fcaa178 Text en © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Original Article
Mohammad, Shekeeb S
Angiti, Rajeshwar Reddy
Biggin, Andrew
Morales-Briceño, Hugo
Goetti, Robert
Perez-Dueñas, Belen
Gregory, Allison
Hogarth, Penelope
Ng, Joanne
Papandreou, Apostolos
Bhattacharya, Kaustuv
Rahman, Shamima
Prelog, Kristina
Webster, Richard I
Wassmer, Evangeline
Hayflick, Susan
Livingston, John
Kurian, Manju
Chong, W Kling
Dale, Russell C
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title_full Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title_fullStr Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title_full_unstemmed Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title_short Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
title_sort magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891249/
https://www.ncbi.nlm.nih.gov/pubmed/33629063
http://dx.doi.org/10.1093/braincomms/fcaa178
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