Tuberous sclerosis

Case contributed by Prashant Mudgal
Diagnosis certain

Presentation

Young patient presented with seizures.

Patient Data

Age: 9 years
Gender: Male
mri

Multiple corticle and subcortical tubers are noted in bilateral frontal, parietal and occipital regions. These tubers appear hyperintense on T2 and FLAIR. In addition to that, there are multiple subependymal calcified hamartomatous nodules noted on the outer walls of bilateral lateral ventricles, showing blooming on SWI sequence. The imaging features are suggestive of tuberous sclerosis.

Case Discussion

Tuberous sclerosis is a rare genetic disease that involves various organs in the body and CNS being one of the most common site. Typical brain involvement characteristic features are cortical and subcortical tubers, white matter abnormalities, subependymal hamartomas and giant cell astrocytomas.

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