Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Tuberous sclerosis complex (TSC), Bourneville syndrome, Pringle disease, epiloia
Definitions
- Neurocutaneous syndrome: Hamartomatosis
- Hamartomas of multiple organs → CNS, skin, kidney, bone
- "Original" phakomatosis
- "Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma
- Neurocutaneous syndrome: Hamartomatosis
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Angiographic Findings
Nuclear Medicine Findings
Other Lesions
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Gül Mert G et al: Factors affecting epilepsy prognosis in patients with tuberous sclerosis. Childs Nerv Syst. 35(3):463-8, 2019
- Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
- Sun K et al: Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T. Neuroradiology. 60(8):785-94, 2018
- French JA et al: Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056):2153-63, 2016
- Krishnan A et al: Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 54(3):423-40, 2016
- Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. 31(1):109-13, 2015
- Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
- Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
- Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
- Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
- Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
- Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
- Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
- Cepeda C et al: Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia. 51 Suppl 3:160-5, 2010
- Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
- Kalantari BN et al: Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 190(5):W304-9, 2008
- Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
- 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
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Tuberous sclerosis complex (TSC), Bourneville syndrome, Pringle disease, epiloia
Definitions
- Neurocutaneous syndrome: Hamartomatosis
- Hamartomas of multiple organs → CNS, skin, kidney, bone
- "Original" phakomatosis
- "Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma
- Neurocutaneous syndrome: Hamartomatosis
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Angiographic Findings
Nuclear Medicine Findings
Other Lesions
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Gül Mert G et al: Factors affecting epilepsy prognosis in patients with tuberous sclerosis. Childs Nerv Syst. 35(3):463-8, 2019
- Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
- Sun K et al: Magnetic resonance imaging of tuberous sclerosis complex with or without epilepsy at 7 T. Neuroradiology. 60(8):785-94, 2018
- French JA et al: Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 388(10056):2153-63, 2016
- Krishnan A et al: Cross-sectional imaging review of tuberous sclerosis. Radiol Clin North Am. 54(3):423-40, 2016
- Daghistani R et al: MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex. Childs Nerv Syst. 31(1):109-13, 2015
- Manoukian SB et al: Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 204(5):933-43, 2015
- Kothare SV et al: Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 55(7):1025-9, 2014
- Ouyang T et al: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst. 30(4):561-70, 2014
- Boronat S et al: Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 29(7):912-919, 2013
- Kadom N et al: Utility of magnetization transfer T1 imaging in children with seizures. AJNR Am J Neuroradiol. 34(4):895-8, 2013
- Krsek P et al: Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex. Epilepsia. 54(11):1913-21, 2013
- Pascual-Castroviejo I et al: Significance of tuber size for complications of tuberous sclerosis complex. Neurologia. 28(9):550-7, 2013
- Cepeda C et al: Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia. 51 Suppl 3:160-5, 2010
- Krueger DA et al: Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 363(19):1801-11, 2010
- Kalantari BN et al: Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 190(5):W304-9, 2008
- Karadag D et al: Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol. 2005
- 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
