D-2-Hydroxyglutaric aciduria and subdural haemorrhage.
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.


CONCLUSIONS
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.
Kwong
K L
KL
Department of Paediatrics, Tuen Mun Hospital, Hong Kong.
Mak
T
T
Fong
C M
CM
Poon
K H
KH
Wong
S N
SN
So
K T
KT
D000058:Accidental Falls; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D005500:Follow-Up Studies; D005977:Glutarates / Q000378:metabolism*; D006408:Hematoma, Subdural / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D018570:Risk Assessment; D014057:Tomography, X-Ray Computed
D005977:Glutarates; C019417:alpha-hydroxyglutarate