Vol. 30 No. 3 BRIEF REPORTS PDF

Tuberous sclerosis in a 17-year-old female

Ernesto D. Golez III, MD, Richard C. Kho, MD

Objective

To report a classic case of tuberous sclerosis complex.

Methods

This is a case report.

Results

A 17-year-old female presented with bilateral blurring of vision with left temporal headaches and seizures. Physical examination showed she had adenoma sebaceum, ash-leaf spots, and shagreen patches. Computed tomography revealed hydrocephaly, tubers, and subependymal nodules while magnetic resonance imaging revealed a giant-cell astrocytoma, later confirmed through histopathologic examination. Renal ultrasound showed findings consistent with an angiomyolipoma. Ophthalmologic findings included left cortical cataract, papillidema, and retinal astrocytoma.

Conclusion

The findings were consistent with tuberous sclerosis.