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Tuberous Sclerosis

Last Updated: October 1, 2018

Open Table of Contents: Tuberous Sclerosis

Figure 1: Multiple FLAIR-hyperintense (top row left) subependymal nodules with corresponding dark susceptibility artifact (top row right) that reflects calcification. These nodules are also clearly visible on the T2 image (middle row left) against the bright CSF. A few of the nodules demonstrate moderate enhancement (middle row right). Also, notice the much larger heterogeneous lesion along the right lateral ventricle at the level of the caudothalamic groove compatible with a subependymal giant cell astrocytoma.

Additionally, there are numerous regions of cortical expansion with T2/FLAIR hyperintense signal (middle row left, bottom row left) and associated, increased linear signal radiating from the periventricular white matter to the subcortical regions (bottom row right) – known as the radial band sign.

Description

  • Multisystem, neurocutaneous disorder characterized by development of multiple benign tumors of ectodermal origin

Pathology

  • Caused by mutation in TSC1 or TSC2 gene
  • Mutations lead to abnormal cellular differentiation and proliferation

Clinical Features

  • Symptoms
    • Most commonly will have neurologic manifestations
    • Classic triad is actually uncommon (~30%)
      • Facial angiofibromas, seizures and mental retardation
  • Age

    • Highly variable age at presentation due to variable penetrance
  • Gender

    • No predilection

Imaging

  • General
    • Calcified subependymal nodules, subependymal giant cell astrocytomas (SEGA) and cortical and subcortical tubers
  • Modality Specific

    • CT
      • 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
    • MR

      • T1WI
        • Tubers: hypo- to isointense, sometimes hyperintense
        • Subependymal nodules: often hyperintense
        • SEGA: hypo- to isointense
      • T2WI

        • Tubers: iso- to slightly hyperintense
        • Subependymal nodules: iso- to hyperintense
        • SEGA: heterogeneous iso- to hyperintense
      • DWI

        • No restriction
      • T2*

        • Subependymal nodules and SEGA: hypointense calcifications
      • Contrast

        • Tubers: rare enhancement
        • Subependymal nodules: may have enhancement
        • SEGA: avid enhancement
  • Imaging Recommendations

    • MR with contrast
  • Mimic

    • 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

DOI: https://doi.org/10.18791/nsatlas.v1.03.02.27

References

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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