Tuberous sclerosis (TS)

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Intellectual disability with seizures.

Patient Data

Age: 5 years
Gender: Female
mri

The MRI sequences demonstrate:

  • bilateral and extensive cortical and subcortical areas of low signal on T1 and high signal on FLAIR and T2 with no enhancement on postcontrast sequences in keeping with cortical/subcortical tubers
  • few linear bands of high signal FLAIR, radiating from the periventricular white matter to the subcortical region mainly in the left frontal lobe in keeping with radial bands sign
  • numerous small subependymal nodules of iso-to high signal to the cortical grey matter on T1, isosignal on T2, and high signal FLAIR with no significant enhancement on post-contrast sequences
  • dilatation of the lateral ventricles

Case Discussion

The clinical presentation and MRI findings with two major features of the disease (according to the TS diagnostic criteria) are most consistent with tuberous sclerosis.

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