Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment

Pediatr Neurosurg. 2017;52(1):46-50. doi: 10.1159/000448736. Epub 2016 Oct 8.

Abstract

Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia type 1 under guideline-recommended treatment. We report a second case of life-threatening severe acute subdural hemorrhage after a minor head trauma in a patient with glutaric acidemia type 1. This patient was previously diagnosed by newborn screening, and treatment began at 25 days of age. Early diagnosis and guideline-recommended treatment produce better outcomes for patients with glutaric acidemia type 1, although the risk of subdural hemorrhage remains.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Brain Diseases, Metabolic / complications
  • Brain Diseases, Metabolic / diagnostic imaging
  • Brain Diseases, Metabolic / surgery*
  • Craniocerebral Trauma / complications
  • Craniocerebral Trauma / diagnostic imaging
  • Craniocerebral Trauma / surgery*
  • Glutaryl-CoA Dehydrogenase / deficiency*
  • Hematoma, Subdural, Acute / complications
  • Hematoma, Subdural, Acute / diagnostic imaging
  • Hematoma, Subdural, Acute / surgery*
  • Humans
  • Infant
  • Male
  • Severity of Illness Index*
  • Treatment Outcome

Substances

  • Glutaryl-CoA Dehydrogenase

Supplementary concepts

  • Glutaric Acidemia I