Tuberous sclerosis

Case contributed by Dr Ian Craven


Seizures. Development delay. Headaches

Patient Data

Age: 6 years
Gender: Male

On the T2 weighted and FLAIR sequences, there are multiple hyperintense lesions in the cortex and subcortical white matter. One of these lesions, in the left occipital lobe, has some internal vacuolisation. Several (for instance the left frontal and left inferior parietal lesions) are associated with a band of hyperintensity extending to the ventricular margin (the transmantle sign). These are the typical appearances of cortical tubers.

There are multiple subependymal soft tissue nodules along the margins of the lateral ventricles. 

On the T1-weighted post-contrast sequence, there is a pedunculated lesion arising from the region of the left Foramen of Munro, extending into the left lateral ventricle. Although the pre-contrast T1 is not shown, the lesion is avidly enhancing and is typical for a subependymal giant cell astrocytoma. There is slight asymmetry of the lateral ventricles with relative prominence of the left.

This combination of multiple cortical tubers, subependymal nodules and a subependymal giant cell astrocytoma is pathognomonic of tuberous sclerosis.

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