Tuberous sclerosis

Case contributed by Hidayatullah Hamidi
Diagnosis almost certain

Presentation

Epilepsy

Patient Data

Age: 10 year
Gender: Male
ct

Multiple small, calcified, subependymal nodules are seen along margins of lateral ventricles (subependymal hamartomas).

Cortical/subcortical calcified tubers in the left temporal lobe and bilateral cerebellar hemisphere.

Retinal hamartomas/calcifications seen in both eyes.

Non-calcified tubers in right frontal, parietal and temporal lobes.

Focal encephalomalacia in left corona radiate.

Case Discussion

The features are suggestive of CNS manifestation of tuberous sclerosis; a neurocutaneous disorder characterized by cortical tubers and subependymal hamartomas.

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