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Tuberous sclerosis

Case contributed by Hani Makky Al Salam
Diagnosis almost certain

Presentation

Baby girl with tuberous sclerosis.

Patient Data

Age: 60 weeks
Gender: Female
ct

Bilateral nonenhancing hypodensities in all cerebral lobes, likely representing cortical tubers.
Hyperdense (undergoing calcification?) subependymal hamartomas in the lateral ventricles.
Peripherally enhancing subependymal giant cell astrocytoma in the frontal horn of the left ventricle.

mri

Bilateral nonenhancing T1 hypointense/T2 hyperintense areas in all cerebral lobes - cortical tubers.
Subependymal hamartomas in the lateral ventricles, isointense to adjacent white matter.
Enhancing subependymal giant cell astrocytoma in the frontal horn of the left ventricle.

Case Discussion

The findings of cortical tubers, subependymal hamartomas, and a subependymal giant cell astrocytoma (SEGA), essentially cinch the diagnosis.

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