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Glutaric aciduria type 1: neuroimaging features with clinical correlation
Shaimaa Abdelsattar Mohammad1, Heba Salah Abdelkhalek2, Khaled A Ahmed3
1Department of Radiodiagnosis, Faculty of Medicine, Ain-Shams University, 9 Ain-Shams university staff buildings, Lotfi Elsayed St., Cairo, Egypt, 11657. shaimaa96@hotmail.com.
Pediatric Radiology
|June 27, 2015
Summary
Glutaric aciduria type 1 (GA1) causes significant morbidity, with MRI showing abnormalities in gray matter, particularly the globus pallidus. Gray matter damage, not white matter, strongly correlates with disease severity and patient morbidity.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatric Imaging
Background:
- Glutaric aciduria type 1 (GA1) is a rare, high-morbidity neurometabolic disorder.
- Understanding its neuroimaging manifestations is crucial for diagnosis and management.
Purpose of the Study:
- To detail the Magnetic Resonance (MR) imaging findings in GA1.
- To explore correlations between clinical features and imaging abnormalities.
Main Methods:
- Retrospective review of MRI scans from 29 children diagnosed with GA1.
- Calculation of gray and white matter scores using a pattern-recognition approach.
- Assessment of hippocampal formation and opercular topography, correlating MRI scores with morbidity.
Main Results:
- Key findings include widened operculum, subarachnoid space dilatation, and underdeveloped frontotemporal lobes.
- Incomplete hippocampal inversion and globus pallidus involvement (86%) were observed.
- Morbidity scores correlated significantly with gray matter abnormality scores (P=0.004), especially in patients with dystonia.
Conclusions:
- Gray matter abnormalities, more than white matter, are significantly linked to morbidity in GA1.
- This correlation holds true regardless of whether the disease onset is acute or insidious.
