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.
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.
Authors: Dusten Unruh; Steven R Schwarze; Laith Khoury; Cheddhi Thomas; Meijing Wu; Li Chen; Rui Chen; Yinxing Liu; Margaret A Schwartz; Christina Amidei; Priya Kumthekar; Carolina G Benjamin; Kristine Song; Caleb Dawson; Joanne M Rispoli; Girish Fatterpekar; John G Golfinos; Douglas Kondziolka; Matthias Karajannis; Donato Pacione; David Zagzag; Thomas McIntyre; Matija Snuderl; Craig Horbinski Journal: Acta Neuropathol Date: 2016-09-23 Impact factor: 17.088
Authors: Martijn Kranendijk; Eduard A Struys; Gajja S Salomons; Marjo S Van der Knaap; Cornelis Jakobs Journal: J Inherit Metab Dis Date: 2012-03-06 Impact factor: 4.982
Authors: Ester Perales-Clemente; Angela L Hewitt; April L Studinski; Jan-Mendelt Tillema; William J Laxen; Devin Oglesbee; Arne H Graff; Piero Rinaldo; Brendan C Lanpher Journal: JIMD Rep Date: 2020-11-20