Glutaric aciduria type I (GA-I) is associated with a metabolic encephalopathy that may manifest as a number of changes that can be seen in cerebral imaging studies.

Patient selection: glutaric aciduria type I


Imaging changes may include:

(1) ventriculomegaly

(2) delayed myelination (white matter)

(3) thinning of the corpus callosum

(4) subependymal pseudocysts

(5) subdural hemorrhage or hygroma

(6) widening of the supratentorial CSF spaces

(7) frontotemporal hypoplasia with widening of the Sylvian and anterior temporal CSF spaces

(8) isolated signal changes in the globus pallidus

(9) signal abnormalities in extra-striatal nuclei (thalamus, dentate nuclei, substantia nigra)

(10) striatum showing T2/FLAIR hyperintensity and/or volume loss

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