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Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review

PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. Children with GA1 are reported to be predisposed to subdural hematoma (SDH) development due to stretching of cortical veins secondary to cerebral atrophy and expansion of CSF spaces....

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Autores principales: Vester, Marloes E. M., Bilo, Rob A. C., Karst, Wouter A., Daams, Joost G., Duijst, Wilma L. J. M., van Rijn, Rick R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529472/
https://www.ncbi.nlm.nih.gov/pubmed/26219480
http://dx.doi.org/10.1007/s12024-015-9698-0
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author Vester, Marloes E. M.
Bilo, Rob A. C.
Karst, Wouter A.
Daams, Joost G.
Duijst, Wilma L. J. M.
van Rijn, Rick R.
author_facet Vester, Marloes E. M.
Bilo, Rob A. C.
Karst, Wouter A.
Daams, Joost G.
Duijst, Wilma L. J. M.
van Rijn, Rick R.
author_sort Vester, Marloes E. M.
collection PubMed
description PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. Children with GA1 are reported to be predisposed to subdural hematoma (SDH) development due to stretching of cortical veins secondary to cerebral atrophy and expansion of CSF spaces. Therefore, GA1 testing is part of the routine work-up in abusive head trauma (AHT). This systematic review addresses the coexistence of GA1 and SDH and the validity of GA1 in the differential diagnosis of AHT. METHODS: A systematic literature review, with language restriction, of papers published before 1 Jan 2015, was performed using Pubmed, PsychINFO, and Embase. Inclusion criteria were reported SDHs, hygromas or effusions in GA1 patients up to 18 years of age. Of 1599 publications, 20 publications were included for analysis. RESULTS: In total 20 cases, 14 boys and 6 girls, were included. In eight cases (40 %) a child abuse work-up was performed, which was negative in all cases. Clinical history revealed the presence of trauma in eight cases (40 %). In only one case neuroradiology revealed no abnormalities related to GA1 according to the authors, although on evaluation we could not exclude AHT. CONCLUSION: From this systematic review we conclude that SDHs in 19/20 children with GA1 are accompanied by other brain abnormalities specific for GA1. One case with doubtful circumstances was the exception to this rule.
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spelling pubmed-45294722015-08-11 Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review Vester, Marloes E. M. Bilo, Rob A. C. Karst, Wouter A. Daams, Joost G. Duijst, Wilma L. J. M. van Rijn, Rick R. Forensic Sci Med Pathol Review PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. Children with GA1 are reported to be predisposed to subdural hematoma (SDH) development due to stretching of cortical veins secondary to cerebral atrophy and expansion of CSF spaces. Therefore, GA1 testing is part of the routine work-up in abusive head trauma (AHT). This systematic review addresses the coexistence of GA1 and SDH and the validity of GA1 in the differential diagnosis of AHT. METHODS: A systematic literature review, with language restriction, of papers published before 1 Jan 2015, was performed using Pubmed, PsychINFO, and Embase. Inclusion criteria were reported SDHs, hygromas or effusions in GA1 patients up to 18 years of age. Of 1599 publications, 20 publications were included for analysis. RESULTS: In total 20 cases, 14 boys and 6 girls, were included. In eight cases (40 %) a child abuse work-up was performed, which was negative in all cases. Clinical history revealed the presence of trauma in eight cases (40 %). In only one case neuroradiology revealed no abnormalities related to GA1 according to the authors, although on evaluation we could not exclude AHT. CONCLUSION: From this systematic review we conclude that SDHs in 19/20 children with GA1 are accompanied by other brain abnormalities specific for GA1. One case with doubtful circumstances was the exception to this rule. Springer US 2015-07-29 2015 /pmc/articles/PMC4529472/ /pubmed/26219480 http://dx.doi.org/10.1007/s12024-015-9698-0 Text en © The Author(s) 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Review
Vester, Marloes E. M.
Bilo, Rob A. C.
Karst, Wouter A.
Daams, Joost G.
Duijst, Wilma L. J. M.
van Rijn, Rick R.
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title_full Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title_fullStr Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title_full_unstemmed Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title_short Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
title_sort subdural hematomas: glutaric aciduria type 1 or abusive head trauma? a systematic review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529472/
https://www.ncbi.nlm.nih.gov/pubmed/26219480
http://dx.doi.org/10.1007/s12024-015-9698-0
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