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Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings
Anitha Sen1, Rajesh Subramonia Pillay
1Department of Radiodiagnosis, Devi Scans, Medical College PO, Thiruvananthapuram, Kerala, India.
Abstract:
Two siblings born of a consanguineous marriage with history of neurologic deterioration were imaged. Imaging features are classical of glutaric aciduria type 1 (GA-1), acute (striatal necrosis) stage in younger sibling, and chronic stage in older sibling. GA-1 is an autosomal recessive disease with typical imaging features. Greater awareness about this condition among clinicians and radiologists is essential for early diagnosis and prevention of its catastrophic consequences. Striatal necrosis with stroke-like signal intensity on imaging correlates with clinical stage of patients.
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