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Age: 22

Sex: Male

Indication: Seizure

Save ("V")

Case #3


Findings

  • Symmetric T1 signal hyperintensity involving the bilateral basal ganglia, thalami (especially the pulvinar), and dentate nuclei with corresponding susceptibility artifact
  • Patchy T2/FLAIR hyperintensities in the bilateral frontal periventricular white matter
  • Additional linear areas of susceptibility artifact involving the bilateral cerebral subcortical and deep white matter, most pronounced in the frontal lobes


Diagnosis

Fabry disease

Sample Report

No acute intracranial abnormality.

Symmetric T1 signal hyperintensity involving the bilateral basal ganglia, thalami (especially the pulvinar), and dentate nuclei with corresponding susceptibility artifact, likely relating to mineralization. Additional linear areas of susceptibility artifact involving the bilateral cerebral subcortical and deep white matter, most pronounced in the frontal lobes also likely represent mineralization. Given distribution and patient age, these findings are favored to represent Fabry disease. Disorders of calcium homeostasis including hyper- and hypoparathyroidism are additional diagnostic considerations.

Patchy T2/FLAIR hyperintensities in the bilateral frontal periventricular white matter, which are nonspecific but may relate to chronic small vessel ischemia.


Discussion



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Images

T1 signal hyperintensity in the deep gray structures, notably the pulvinar nuclei of the thalami (red arrows), in this patient with Fabry disease.



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