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. 2015 Sep;11(3):405-15.
doi: 10.1007/s12024-015-9698-0. Epub 2015 Jul 29.

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

Marloes E M Vester  1 , Rob A C Bilo, Wouter A Karst, Joost G Daams, Wilma L J M Duijst, Rick R van Rijn
Affiliations

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

Marloes E M Vester et al. Forensic Sci Med Pathol. 2015 Sep.

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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Figures

Fig. 1
Fig. 1
Six month old girl with known GA1. T2 weighted MRI (TR 3944, TE 80, Flip angle 90°, slice thickness 3 mm) shows widening of the Sylvian fissures (asterisk) and a high signal intensity of the basal ganglia (arrow)
Fig. 2
Fig. 2
Flowchart literature search
See this image and copyright information in PMC

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