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Forensic Science, Medicine and Pathology
Published in: Forensic Science, Medicine and Pathology 3/2015

Open Access 01-09-2015 | Review

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

Authors: Marloes E. M. Vester, Rob A. C. Bilo, Wouter A. Karst, Joost G. Daams, Wilma L. J. M. Duijst, Rick R. van Rijn

Published in: Forensic Science, Medicine and Pathology | Issue 3/2015

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Abstract

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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Metadata
Title
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review
Authors
Marloes E. M. Vester
Rob A. C. Bilo
Wouter A. Karst
Joost G. Daams
Wilma L. J. M. Duijst
Rick R. van Rijn
Publication date
01-09-2015
Publisher
Springer US
Published in
Forensic Science, Medicine and Pathology / Issue 3/2015
Print ISSN: 1547-769X
Electronic ISSN: 1556-2891
DOI
https://doi.org/10.1007/s12024-015-9698-0

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