Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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May 12, 2014
Tuberous Sclerosis
- Neurocutaneous syndrome with a wide variety of clinical, pathologic, and radiologic manifestations.
- Autosomal dominant inheritance with a high penetrance and variable expressivity.
- Vogt's clinical triad of adenoma sebaceum, seizures, and intellectual disability present in 29% cases.
- Multiorgan hamartomatous involvement is seen.
- Key Diagnostic Features: Cortical tubers, white matter abnormalities, subependymal nodules, subependymal giant cell astrocytoma (SEGA)
- DDx: CMV infection
- Rx: Antiepileptic drugs for seizure control; immunosuppresants, such as rapamycin; chemotherapy; and surgery for SEGA
