Tuberous sclerosis
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Presentation
10-month-old baby with skin lesions and mild seizures
Patient Data
multiple bilateral periventricular and subependymal nodular lesions with predominantly high T1 and low to intermediate T2/FLAIR signal intensity
bilateral subcortical patchy areas of variable T1 and high T2/FLAIR signal intensity with no restricted diffusion. Some subcortical lesions are possibly calcified with a low T2 signal
streaky linear T2 / Flair hyperintensities (radial bands) along the radial migrations from the ventricle to the cortex. These bands are oriented perpendicular to the ventricular wall
focal deep white matter cyst-like T2 hyperintense lesions (cystoid degenerations) are seen, most evident at the right high posterior frontal lobe
Case Discussion
This case shows typical MRI findings of tuberous sclerosis of the brain with subcortical tubers and subependymal nodules (SEN). Tuberous sclerosis is one of the phakomatoses which are a group of neuroectodermal disorders characterized by coexisting skin lesions and CNS tumors. The typical classic triad of TS is intellectual disability, adenoma sebaceoum and seizures, yet it is found in a minority of patients.
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