Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC)
TSC-associated neuropsychiatric disorders (TAND)
Collective term for autism (61%), intellectual disability (45%), behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties associated with TSC
Synonyms
Bourneville disease
Definitions
Dominantly inherited genetic disorder with striking clinical variability
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Borțea CI et al: The value of imagistics in early diagnosis of tuberous sclerosis. Case Rep Pediatr. 2020:1309184, 2020
Auvin S et al: A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 14(1):91, 2019
Cavalcante CTMB et al: Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature. J Matern Fetal Neonatal Med. 1-15, 2019
Chen J et al: Fetal cardiac tumors: fetal echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound Obstet Gynecol. 54(1):103-9, 2018
Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
Dragoumi P et al: Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol. 22(6):1027-34, 2018
Harris S et al: Maternal genetic disorders in pregnancy. Obstet Gynecol Clin North Am. 45(2):249-65, 2018
Jana M et al: Expanding applications of prenatal MR imaging: detection of complex multisystem anomalies made easy. Indian J Pediatr. 85(9):716-7, 2018
Chung CWT et al: Early detection of tuberous sclerosis complex: an opportunity for improved neurodevelopmental outcome. Pediatr Neurol. 76:20-6, 2017
Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
Rito M et al: Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: report of a case and review of the literature. Pathol Res Pract. 213(3):286-91, 2017
Goel R et al: Fetal and maternal manifestations of tuberous sclerosis complex: Value of fetal MRI. Neuroradiol J. 29(1):57-60, 2016
Ornoy A et al: Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Front Neurosci. 10:316, 2016
de Vries PJ et al: Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 52(1):25-35, 2015
Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
Tyagi V et al: Fetal and postnatal magnetic resonance imaging of unilateral cystic renal dysplasia in a neonate with tuberous sclerosis. Pediatr Neonatol. 57(5):440-3, 2014
Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011
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
Abbreviations
Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC)
TSC-associated neuropsychiatric disorders (TAND)
Collective term for autism (61%), intellectual disability (45%), behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties associated with TSC
Synonyms
Bourneville disease
Definitions
Dominantly inherited genetic disorder with striking clinical variability
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Borțea CI et al: The value of imagistics in early diagnosis of tuberous sclerosis. Case Rep Pediatr. 2020:1309184, 2020
Auvin S et al: A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 14(1):91, 2019
Cavalcante CTMB et al: Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature. J Matern Fetal Neonatal Med. 1-15, 2019
Chen J et al: Fetal cardiac tumors: fetal echocardiography, clinical outcome and genetic analysis in 53 cases. Ultrasound Obstet Gynecol. 54(1):103-9, 2018
Curatolo P et al: Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations. Eur J Paediatr Neurol. 22(5):738-48, 2018
Dragoumi P et al: Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol. 22(6):1027-34, 2018
Harris S et al: Maternal genetic disorders in pregnancy. Obstet Gynecol Clin North Am. 45(2):249-65, 2018
Jana M et al: Expanding applications of prenatal MR imaging: detection of complex multisystem anomalies made easy. Indian J Pediatr. 85(9):716-7, 2018
Chung CWT et al: Early detection of tuberous sclerosis complex: an opportunity for improved neurodevelopmental outcome. Pediatr Neurol. 76:20-6, 2017
Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
Rito M et al: Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: report of a case and review of the literature. Pathol Res Pract. 213(3):286-91, 2017
Goel R et al: Fetal and maternal manifestations of tuberous sclerosis complex: Value of fetal MRI. Neuroradiol J. 29(1):57-60, 2016
Ornoy A et al: Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Front Neurosci. 10:316, 2016
de Vries PJ et al: Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 52(1):25-35, 2015
Sciacca P et al: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14:66, 2014
Tyagi V et al: Fetal and postnatal magnetic resonance imaging of unilateral cystic renal dysplasia in a neonate with tuberous sclerosis. Pediatr Neonatol. 57(5):440-3, 2014
Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
Prabowo AS et al: Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 23(1):45-59, 2013
Gedikbasi A et al: Prenatal sonographic diagnosis of tuberous sclerosis complex. J Clin Ultrasound. 39(7):427-30, 2011
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