Glutaric aciduria type I
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Diagnosis almost certain
Presentation
Delayed developmental milestones and mental retardation.
Patient Data
Age: 7 years
Gender: Male
From the case:
Glutaric aciduria type I
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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
Case Discussion
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.
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