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Tuberous sclerosis complex: a case report and literature review
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old...
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Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
BackgroundTuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in the TSC1 and TSC2 genes, causing overactivation...
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Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors
PurposeTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems. Mutations in the TSC1 and...
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Myocardial fatty foci on cardiac MRI in an adult with tuberous sclerosis complex
We report cardiac MRI findings in a 38-year-old female Tuberous sclerosis complex (TSC) patient with regressed rhabdomyomas. Presence of myocardial...
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Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment
AimTo investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes...
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Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review
BackgroundTuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ...
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Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature
Subependymal giant cell astrocytoma (SEGA) represents a benign brain tumor occurring in 5–20% of individuals diagnosed with tuberous sclerosis...
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The extent of kidney involvement in paediatric tuberous sclerosis complex
BackgroundTuberous sclerosis (TSC)–associated kidney disease is a leading cause of mortality in adults with TSC. This study aimed to understand TSC...
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Astroglial calcium signaling and homeostasis in tuberous sclerosis complex
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the...
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Tuberous sclerosis complex is associated with a novel human tauopathy
Tuberous sclerosis complex (TSC) is a neurogenetic disorder leading to epilepsy, developmental delay, and neurobehavioral dysfunction. The syndrome...
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Sirolimus can promote the disappearance of renal angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study
BackgroundRenal angiomyolipoma (RAML) is the most common kidney lesion in patients with tuberous sclerosis complex (TSC), affecting about 80% of...
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Subependymal giant cell astrocytoma as presentation of tuberous sclerosis: a case report
BackgroundA case of tuberous sclerosis patient on long-term follow-up is reported here.
Case presentationA 22-year-old female patient with epilepsy...
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Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age-...
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Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex
GABAergic interneurons play a critical role in maintaining neural circuit balance, excitation–inhibition regulation, and cognitive function...
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Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos
We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to...
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Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis
The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in...
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Long-Term Outcomes of Tuberous Sclerosis Complex-Associated Non-functional Pancreatic Neuroendocrine Tumors: Should We Be More Conservative?
BackgroundHereditary syndromes such as tuberous sclerosis complex (TSC) account for 10% of pancreatic neuroendocrine tumors (PNETs). Surgical...
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Modeling tuberous sclerosis complex with human induced pluripotent stem cells
BackgroundTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a birth incidence of 1:6000 in the United States that is...
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Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey
BackgroundTuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders,...
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Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body....
