D-2-Hydroxyglutaric aciduria and subdural haemorrhage.

Autor:	Kwong, K. L., Mak, T., Fong, C. M., Poon, K. H., Wong, S. N., So, K T
Předmět:	INBORN errors of metabolism HEMORRHAGIC diseases in children DIAGNOSIS of brain diseases BRAIN disease treatment INBORN errors of metabolism diagnosis BRAIN diseases COMPUTED tomography ACCIDENTAL falls LONGITUDINAL method MAGNETIC resonance imaging RISK assessment SUBDURAL hematoma ACYCLIC acids DISEASE complications
Zdroj:	Acta Paediatrica; Jun2002, Vol. 91 Issue 6, p716-718, 3p
Abstrakt:	Unlabelled: D-2-Hydroxyglutaric aciduria (D-2-HG) is a rare metabolic disorder. First reported in 1980, it does not have any well-recognized presentation or specific treatment regimen. Neuroimaging findings are heterogeneous. Subdural haemorrhage has not been a feature of any of the reported cases. This report presents a boy with bilateral subdural haematoma in whom non-accidental injury was initially suspected and subsequent metabolic investigation led to a diagnosis of D-2-HG.Conclusion: In the management of childhood subdural haemorrhages, it is very important that potentially treatable metabolic disorders are detected and that parents are not wrongly accused of injuring their children. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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