Phenylketonuria

Case contributed by Assoc Prof Frank Gaillard

Presentation

Possible executive issues.

Patient Data

Age: 33
Gender: Female
MRI

There is bilateral increased T2/FLAIR signal in the periventricular white matter, most prominent in the parietal regions. There is also mild corresponding diffusion restriction.

No cerebral atrophy, with age-appropriate ventricles and sulci. The cerebellum is normal. No abnormality of the corpus callosum, brainstem or other midline structures. No intracranial mass lesion.

Conclusion:

Periventricular high T2/FLAIR signal is consistent with phenylketonuria.

Case Discussion

This patient is a known case phenylketonuria (PKU) who has been "off-diet" for 20 years. The periventricular T2 changes reportedly show some reversibility with dietary intervention.

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