D-2-Hydroxyglutaric aciduria and subdural haemorrhage

Acta Paediatr. 2002;91(6):716-8. doi: 10.1080/080352502760069188.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Accidental Falls
  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Brain Diseases, Metabolic, Inborn / therapy
  • Follow-Up Studies
  • Glutarates / metabolism*
  • Hematoma, Subdural / complications*
  • Hematoma, Subdural / diagnosis*
  • Hematoma, Subdural / therapy
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Risk Assessment
  • Tomography, X-Ray Computed

Substances

  • Glutarates
  • alpha-hydroxyglutarate