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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.
Insights
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.
Background:
Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity.
Objective:
To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features.
Materials And Methods:
MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score.
Results:
The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores.
Conclusion:
Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.
