ICNC Abstracts, ICNC 2018

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GLUTARIC ACIDURIA TYPE 1: AN USUAL IMAGING FEATURE
SHRUTI HARSHAL AGRAWAL, SANGEETA RAVAT, VIRAJ SANGHI

Last modified: 2018-09-09

Abstract


Glutaric aciduria type I is a rare autosomal recessive disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Accumulation of glutaric acid causes neurotoxicity in the basal ganglia and fronto-temporal cortex. Because dietary and drug therapy may alter the natural history of the disease, early diagnosis is critical. We present a case of a macrocephalic child who presented at 10 months of life as acute non traumatic right frontoparietal subdural hematoma followed by choreoathetoid movements, regression of milestones and global developmental delay. MRI showed a very unusual finding of striking periventricular white matter changes along with usual findings of very wide CSF spaces anterior to the temporal lobes with T2/FLAIR hyperintensities with restricted diffusion in bilateral putamen. We went ahead with genetic testing and confirmed Heterozygous mutation in GCDH gene. Dietary supplements were added. Florid periventricular signals in Glutaric aciduria is a very rare finding and has never been highlighted so far in literature to the best of our knowledge.


Keywords


glutaric aciduria, RARE RADIOLOGICAL PRESENTATION.

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