D-2-Hydroxyglutaric aciduria and subdural haemorrhage

Autor:	CM Fong, Karen L. Kwong, KH Poon, T Mak, Kwan T. So, SN Wong
Rok vydání:	2007
Předmět:	Child abuse medicine.medical_specialty business.industry Treatment regimen Vascular disease Diagnostico diferencial Metabolic disorder Subdural haematoma General Medicine medicine.disease Surgery Pediatrics Perinatology and Child Health Medicine D-2-hydroxyglutaric aciduria business
Zdroj:	Acta Paediatrica. 91:716-718
ISSN:	0803-5253
DOI:	10.1111/j.1651-2227.2002.tb03309.x
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::3aa47181bd3b91648d6493f7c0367680 https://doi.org/10.1111/j.1651-2227.2002.tb03309.x Zobrazit plný text záznamu Plný text