Glutaric aciduria type I

Case contributed by Dr Mohammad A. ElBeialy

Presentation

Delayed developmental milestones and mental retardation.

Patient Data

Age: 7 years
Gender: Male
Modality: MRI
  • 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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Case Information

rID: 25186
Case created: 11th Oct 2013
Last edited: 16th Dec 2015
Inclusion in quiz mode: Included

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