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Sporadic right ventricle rhabdomyoma in an adult without tuberous sclerosis
Cardiac rhabdomyoma is a rare benign tumor of the pediatric age group which usually regresses by the age of 2 years. Cardiac rhabdomyoma in adults is...
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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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Anesthetic management of a parturient with tuberous sclerosis for emergency cesarean section- a case report
BackgroundTuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by hamartoma formation in various organ systems leading...
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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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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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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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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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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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Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
Neurocutaneous syndromes (also known as phakomatoses) are heterogenous group of disorders that involve derivatives of the neuroectoderm. Each disease...
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Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
BackgroundLymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon...
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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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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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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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Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature
BackgroundDespite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which...
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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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Case report: tuberous sclerosis and persistent hyperplastic primary vitreous
BackgroundPersistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in...
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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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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-...
