Related Experiment Videos
Neuroimaging findings in glutaric aciduria type 1
Eilish L Twomey1, Eileen R Naughten, Veronica B Donoghue
1Department of Radiology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
Pediatric Radiology
|October 10, 2003
Summary
Glutaric aciduria type 1 (GA-1) imaging reveals widened sylvian fissures and fluid spaces. Basal ganglia and white matter abnormalities on MRI also suggest GA-1.
Area of Science:
- Neurology
- Radiology
- Metabolic Disorders
Background:
- Glutaric aciduria type 1 (GA-1) is a rare inherited metabolic disorder.
- Neuroimaging plays a crucial role in diagnosing GA-1.
Purpose of the Study:
- To review and document the imaging features of GA-1 in a large cohort.
- To compare findings with previously reported imaging characteristics of GA-1.
Main Methods:
- Review of original scans or radiology reports for 20 patients with GA-1.
- Analysis of cranial ultrasound (US), CT, and MRI scans.
Main Results:
- Widening of sylvian fissures (93%) and mesencephalic cistern (86%) were common.
- Abnormal T2-weighted MRI signals in basal ganglia (64%) and white matter (64%).
- High signal intensity in dentate nucleus (79%), substantia nigra (43%), and pontine medial lemniscus (64%).
Conclusions:
- Widened sylvian fissure, mesencephalic cistern, and anterior temporal CSF spaces are key signs of GA-1.
- Combined with basal ganglia and white matter abnormalities, GA-1 should be highly suspected.