Hamartomas of multiple organs → CNS, skin, kidney, bone
"Original" phakomatosis
"Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma
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
Hamartomas of multiple organs → CNS, skin, kidney, bone
"Original" phakomatosis
"Phakoma" 1st used by Dutch ophthalmologist to describe retinal hamartoma
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
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