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Tuberous Sclerosis Complex
Gilbert Vézina, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Tuberous sclerosis complex (TSC)
            • Synonyms

              • Bourneville-Pringle syndrome
            • Definitions

              • Multisystem genetic disorder with epilepsy, multiorgan tumors, and hamartomas
                • Spectrum of central nervous system (CNS) hamartomas; all contain dysplastic neurons and giant (balloon) cells
                • Caused by mutation in TSC1 or TSC2 gene
                • Now considered infantile (developmental) tauopathy
                  • Tau abnormally expressed in many of dysmorphic neurons and glial cells of TSC

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Nuclear Medicine Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
                                            2. Niwa T et al: Age-related changes of susceptibility-weighted imaging in subependymal nodules of neonates and children with tuberous sclerosis complex. Brain Dev. ePub, 2015
                                            3. Sarnat HB et al: Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. Brain Dev. ePub, 2014
                                            4. Crino PB: Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol. 125(3):317-32, 2013
                                            5. Wong M: Mammalian target of rapamycin (mTOR) pathways in neurological diseases. Biomed J. 36(2):40-50, 2013
                                            6. Baskin HJ Jr: The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 38(9):936-52, 2008
                                            7. Luat AF et al: Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol. 20(2):142-50, 2007
                                            8. Makki MI et al: Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex. AJNR Am J Neuroradiol. 28(9):1662-7, 2007
                                            9. Jansen FE et al: Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol. 60(11):1580-4, 2003
                                            10. Rott HD et al: Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet. 111(4):435-9, 2002
                                            11. Christophe C et al: MRI spectrum of cortical malformations in tuberous sclerosis complex. Brain Dev. 22(8):487-93, 2000
                                            12. Baron Y et al: MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol. 20(5):907-16, 1999
                                            13. Griffiths PD et al: White matter abnormalities in tuberous sclerosis complex. Acta Radiol. 39(5):482-6, 1998
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Tuberous sclerosis complex (TSC)
                                                      • Synonyms

                                                        • Bourneville-Pringle syndrome
                                                      • Definitions

                                                        • Multisystem genetic disorder with epilepsy, multiorgan tumors, and hamartomas
                                                          • Spectrum of central nervous system (CNS) hamartomas; all contain dysplastic neurons and giant (balloon) cells
                                                          • Caused by mutation in TSC1 or TSC2 gene
                                                          • Now considered infantile (developmental) tauopathy
                                                            • Tau abnormally expressed in many of dysmorphic neurons and glial cells of TSC

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic Findings

                                                                • Nuclear Medicine Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Treatment

                                                                                    DIAGNOSTIC CHECKLIST

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
                                                                                      2. Niwa T et al: Age-related changes of susceptibility-weighted imaging in subependymal nodules of neonates and children with tuberous sclerosis complex. Brain Dev. ePub, 2015
                                                                                      3. Sarnat HB et al: Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. Brain Dev. ePub, 2014
                                                                                      4. Crino PB: Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol. 125(3):317-32, 2013
                                                                                      5. Wong M: Mammalian target of rapamycin (mTOR) pathways in neurological diseases. Biomed J. 36(2):40-50, 2013
                                                                                      6. Baskin HJ Jr: The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 38(9):936-52, 2008
                                                                                      7. Luat AF et al: Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol. 20(2):142-50, 2007
                                                                                      8. Makki MI et al: Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex. AJNR Am J Neuroradiol. 28(9):1662-7, 2007
                                                                                      9. Jansen FE et al: Diffusion-weighted magnetic resonance imaging and identification of the epileptogenic tuber in patients with tuberous sclerosis. Arch Neurol. 60(11):1580-4, 2003
                                                                                      10. Rott HD et al: Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet. 111(4):435-9, 2002
                                                                                      11. Christophe C et al: MRI spectrum of cortical malformations in tuberous sclerosis complex. Brain Dev. 22(8):487-93, 2000
                                                                                      12. Baron Y et al: MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol. 20(5):907-16, 1999
                                                                                      13. Griffiths PD et al: White matter abnormalities in tuberous sclerosis complex. Acta Radiol. 39(5):482-6, 1998