1. Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment.
- Author
-
Ishige, Mika, Fuchigami, Tatsuo, Ogawa, Erika, Usui, Hiromi, Kohira, Ryutaro, Watanabe, Yoriko, and Takahashi, Shori
- Subjects
- *
GENETIC disorders , *BRAIN injuries , *PATIENTS , *SUBDURAL hematoma , *DIAGNOSIS , *THERAPEUTICS - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF