Glutaric aciduria type I
Delayed developmental milestones and mental retardation.
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- bilateral widened opercula and dilated sylvian fissures with "bat-wing" configuration.
- bilateral T2/FLAIR hyperintensity of the basal ganglia with diffusely increased T2 signal of the deep white matter and the globus palladius as well as the optic radiations with restricted diffusion.
- mild dilatation of the ventricular system.
- widened extra-axial CSF spaces.
- normal sellar region and posterior fossa.
Glutaric aciduria type I with atrophic brain changes.
Wide opercula and "cysts" in the Sylvian fissures as well as bright basal ganglia is virtually diagnostic of Glutaric aciduria type I.
- Nunes J, Loureiro S, Carvalho S et-al. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 2013;26 (2): 155-61. Pubmed citation.