Back to Search
Start Over
Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment
- Source :
- Pediatric Neurosurgery. 52:46-50
- Publication Year :
- 2016
- Publisher :
- S. Karger AG, 2016.
-
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.
- Subjects :
- Male
0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Glutaric aciduria type 1
Severity of Illness Index
03 medical and health sciences
0302 clinical medicine
Hematoma
Severity of illness
medicine
Craniocerebral Trauma
Hematoma, Subdural, Acute
Humans
Glutaryl-CoA dehydrogenase deficiency
Amino Acid Metabolism, Inborn Errors
Newborn screening
Glutaryl-CoA Dehydrogenase
Brain Diseases, Metabolic
business.industry
Infant
nutritional and metabolic diseases
Subdural hemorrhage
General Medicine
medicine.disease
Minor head trauma
Surgery
Treatment Outcome
030104 developmental biology
Pediatrics, Perinatology and Child Health
Neurology (clinical)
business
030217 neurology & neurosurgery
Glutaric Acidemia Type 1
Subjects
Details
- ISSN :
- 14230305 and 10162291
- Volume :
- 52
- Database :
- OpenAIRE
- Journal :
- Pediatric Neurosurgery
- Accession number :
- edsair.doi.dedup.....8846b097e71b8bcd3248333df2d01132