Abstract
PurposeGlutaric 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.MethodsA 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.ResultsIn 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.ConclusionFrom 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.
Highlights
Subdural hematomas (SDHs) in children, especially under two years of age, are a common finding in abusive head trauma (AHT)
From this systematic review we conclude that subdural hematoma (SDH) in 19/20 children with glutaric aciduria type 1 (GA1) are accompanied by other brain abnormalities specific for GA1
In contrast it has been reported that SDHs are estimated to be present, without significant trauma, in 20–30 % of children with glutaric aciduria type 1 (GA1) [3,4,5,6,7,8]
Summary
Subdural hematomas (SDHs) in children, especially under two years of age, are a common finding in abusive head trauma (AHT). This refers to inflicted cranial, cerebral, and spinal injuries due to blunt force trauma (e.g., acceleration or deceleration trauma), inertial trauma (e.g., repetitive acceleration–deceleration trauma), or a combination of factors [1, 2]. Glutaryl-CoA dehydrogenase is a mitochondrial matrix enzyme which helps to convert the proteins lysine, hydroxylysine, and tryptophan to acetoacetyl-CoA. The deficiency of this enzyme results in accumulation of the neurotoxic breakdown products glutaric acid and 3-hydroxy-glutaric acid [9, 10].
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