Last Updated: October 1, 2018
- Multisystem, neurocutaneous disorder characterized by development of multiple benign tumors of ectodermal origin
- Caused by mutation in TSC1 or TSC2 gene
- Mutations lead to abnormal cellular differentiation and proliferation
- Most commonly will have neurologic manifestations
- Classic triad is actually uncommon (~30%)
- Facial angiofibromas, seizures and mental retardation
- Highly variable age at presentation due to variable penetrance
- No predilection
- Calcified subependymal nodules, subependymal giant cell astrocytomas (SEGA) and cortical and subcortical tubers
- Tubers: Hypo- to isodense, though often difficult to appreciate on CT
- Subependymal nodules:
- Calcified and noncalcified subependymal nodules
- Presence of enhancement raises the concern of developing SEGA
- Tubers: hypo- to isointense, sometimes hyperintense
- Subependymal nodules: often hyperintense
- SEGA: hypo- to isointense
- Tubers: iso- to slightly hyperintense
- Subependymal nodules: iso- to hyperintense
- SEGA: heterogeneous iso- to hyperintense
- No restriction
- Subependymal nodules and SEGA: hypointense calcifications
- Tubers: rare enhancement
- Subependymal nodules: may have enhancement
- SEGA: avid enhancement
- MR with contrast
- Superficial tubers may mimic gliomas but are usually multifocal. Subependymal nodules may have the appearance of intraventricular ependymal tumor spread. However, calcifications of these nodules on CT is virtually pathognomonic for TS.
For more information, please see the corresponding chapter in Radiopaedia.
Contributor: Sean Dodson, MD
Gallagher A, et al. MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex. J Neurol. 2010; 257(8):1373-81.
Manoukian SB and Kowal DJ. Comprehensive Imaging Manifestations of Tuberous Sclerosis. AJR. 2015; 2014(5):933-43.
Umeoka S, et al. Pictorial Review of Tuberous Sclerosis in Various Organs. Radiographics. 2008; 28(7): e32.
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