Glutaric Aciduria Type 1 and Nonaccidental Head Injury

Piatt, Joseph H.; Frim, David M.

doi:10.1542/peds.109.3.554

Cited by 9 publications

(3 citation statements)

References 8 publications

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“…In the absence of a history of adequate trauma, the presence of subdural collections of may lead clinicians to suspect non‐accidental trauma in a child with undiagnosed GA1 4 . In our case with minor trauma, subdural haematoma was detected by brain tomography and magnetic resonance imaging showed temporal atrophy, which is the most frequent radiological feature of GA1.…”

mentioning

confidence: 67%

Glutaric Aciduria Type 1 Presenting as Subdural Haematoma

Çarman

Aydoğdu

Yakut

et al. 2012

J Paediatrics Child Health

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Glutaric aciduria type 1 (GA1) is an autosomal recessive disorder caused by deficiency of glutaryl CoA-dehydrogenase. The metabolism of lysine, hydroxylysine and tryptophan is blocked, leading to accumulation of glutaric acid (GA) and increased urinary concentrations of GA and 3-hydroxy GA. Onset usually involves an acute encephalopathic episode in a macrocephalic infant, associated with fever. Unlike other organic acidemias, metabolic and lactic acidosis, hyperammonemia and hypoglycaemia are rarely present. Subsequently, there is gross motor delay with marked dystonia-dyskinesia. Subdural haematoma is a rare presenting feature of GA1.1 We report a case who presented with subdural haematoma and diagnosed as GA1.A 17-month-old girl presented to emergency department with minor head trauma. She had fallen down a chair. Her initial neurological examination was completely normal in the emergency unit. She had a generalised seizure. Computerised brain tomography revealed subdural haematoma and she was operated on. During follow-up, her muscle tone increased gradually and previosuly achieved developmental milestones lost. At the age of 24 months, she was unable to sit and walk. Brain magnetic resonance imaging showed bilateral temporal atrophy (Fig. 1).In tandem mass spectrometry, low free carnitine [(5.6 mmol/L) (N:10-60)] and high C5 DC glutarile carnitine [(0.71 mmol/L) (N:0.0-0.40)] levels were detected. Urine organic acid analysis revealed a 20-fold increase in the GA level. With the help of these findings, GA1 was diagnosed. The child was commenced on a reduced lysine/tryptophan diet with carnitine supplementation.GA1 is a relatively rare disease and the 'typical' presentation is within the first 12 months of life of an acute metabolic encephalopathic crisis followed by loss of motor skills and development of a dystonic-dyskinetic movement disorder.1 The presence of acute and chronic subdural collections has been reported in 20% to 30% of patients with GA1 and might be the presenting feature. The pathogenesis of subdural haematomas in GA1 is unclear. It was hypothesised as caused by expanded extra-axial cerebrospinal fluid spaces that result in stretching of the bridging cortical veins. Consequently, patients are prone to developing subdural haemorrhages after minor trauma. 3In the absence of a history of adequate trauma, the presence of subdural collections of may lead clinicians to suspect nonaccidental trauma in a child with undiagnosed GA1. 4 In our case with minor trauma, subdural haematoma was detected by brain tomography and magnetic resonance imaging showed temporal atrophy, which is the most frequent radiological feature of GA1. The diagnosis of GA1 explained the subdural haematoma.The case is being presented to emphasise that subdural haematoma might be an initial feature of GA1 in children.

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mentioning

confidence: 67%

Glutaric Aciduria Type 1 Presenting as Subdural Haematoma

Çarman

Aydoğdu

Yakut

et al. 2012

J Paediatrics Child Health

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“…This implies that even with a potential benign cause for the presence of a SDH child abuse should be considered. The mechanism, i.e., stretching of anchor veins, as seen in BESS is also present in GA1 and is the cause of an increased risk for SDH development [ 59 ]. We found that in only 40 % of included cases AHT was considered and actively eliminated.…”

Section: Discussionmentioning

confidence: 99%

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

Vester

Bilo

Karst

et al. 2015

Forensic Sci Med Pathol

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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.

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“…Most of the articles are in the form of case reports, in patients presenting with intracranial hematomas, which is a frequent complication of the disease. [3][4][5][6][7][8] In our case, as soon as the patient was referred to our Department, we immediately commenced the intravenous fluids administration regime, suggested by the British Inherited Metabolic Disease Group (BIMDG). It consists of i.v.…”

Section: Discussionmentioning

confidence: 99%

Perioperative Management of Acute Appendicitis in a Patient with Glutaric Aciduria Type 1

2017

ARC Journal of Surgery

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Glutaric Aciduria Type 1 and Nonaccidental Head Injury

Cited by 9 publications

References 8 publications

Glutaric Aciduria Type 1 Presenting as Subdural Haematoma

Glutaric Aciduria Type 1 Presenting as Subdural Haematoma

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

Perioperative Management of Acute Appendicitis in a Patient with Glutaric Aciduria Type 1

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