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Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany
BackgroundTuberous sclerosis complex (TSC) is a monogenetic, multisystemic disease characterised by the formation of benign tumours that can affect...
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Endovascular Repair of a Descending Thoracic Aortic Aneurysm in a Pediatric Patient with Tuberous Sclerosis: A Case Report and Review of the Literature
Aortic aneurysm in children is rare, but has been described in the tuberous sclerosis complex (TSC) population. While surgical repair has been...
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Everolimus versus sirolimus for angiomyolipoma associated with tuberous sclerosis complex: a multi-institutional retrospective study in China
PurposeTo evaluate the efficacy and safety of everolimus and sirolimus in patients with tuberous sclerosis complex-associated angiomyolipomas...
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Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey
BackgroundTuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs,...
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Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility
BackgroundSubependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently...
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Utility of contrast-enhanced ultrasound for solid mass surveillance and characterization in children with tuberous sclerosis complex: an initial experience
BackgroundPatients with tuberous sclerosis complex (TSC) can develop solid kidney masses from childhood. Imaging surveillance is done to detect renal...
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Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study
BackgroundTuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of...
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Neuroimaging in tuberous sclerosis complex
IntroductionTuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1...
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A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature
Subependymal giant cell astrocytoma (SEGA) is a World Health Organization (WHO) grade I tumor most commonly seen in the context of the underlying...
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Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis
Background and objectiveTuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose...
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Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case–control study
BackgroundThe tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the...
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The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance
ObjectiveTo study longitudinal changes in tuber and whole-brain perfusion in children with tuberous sclerosis complex (TSC) using arterial spin...
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Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
BackgroundTuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria....
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Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging
PurposeTuberous sclerosis complex (TSC) is a genetic disorder characterized by multiorgan hamartomas, including cerebral lesions, with seizures as a...
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Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals
Epilepsy occurs in nearly all patients with tuberous sclerosis and is often refractory to medical treatment. The definition of surgical candidacy in...
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An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies
AimWe aimed to describe the experience of a large single-center cohort for the clinical, radiological, and genetic characteristics, as well as to...
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Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
BackgroundTuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This...
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Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity
Renal cell carcinoma with leiomyomatous stroma (RCCLS) is an emerging entity frequently associated with tuberous sclerosis complex (TSC). We...
