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Paper 2
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
A 7 year old boy is referred to a paediatric neurologist with lower than normal IQ and recurrent seizures. He is noted to have a facial rash. A diagnosis of tuberous sclerosis is suspected and an MRI brain is performed which confirms the diagnosis.
Renal Cancer
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Nilay Patel (deceased), Vinodh Murali, David Cranston
Tuberous sclerosis (TS) is an autosomal dominant disease caused by the mutation of TSC1 gene (chromosome 9) and TSC2 gene (chromosome 16). The classic triad of tuberous sclerosis (adenoma sebaceum, seizures and mental retardation) is seen in only 30% of the patients. Adenoma sebaceum are pink- or red-coloured papules usually present on nasolabial folds. They usually develop between age 4 and puberty. Urologic manifestations – renal cysts (usually develop in childhood), AML (usually B/L and multifocal) [23, 24], RCC (in 2% of patients).
Dermatology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Refer for full assessment of tuberous sclerosis: MRI brain.Abdominal ultrasound.Ophthalmological assessment.Cardiac ECHO and ECG.
Topical rapamycin in the treatment of facial angiofibromas in tuberous sclerosis: a systematic review based on evidence
Published in Journal of Dermatological Treatment, 2022
Clara Cortell Fuster, María Amparo Martínez Gómez, Ana Cristina Cercós Lleti, Mónica Climente Martí
Tuberous sclerosis (TS) is a rare disease with an incidence of 1 in 6000 to 1 in 10,000 individuals (1). Genetically, it is an autosomal dominant inherited disease with variable expression, caused by the inactivation of either of two tumor suppressor genes: TSC1 or TSC2 (2) (located on chromosome 9 and 16, respectively). These genes encode the hamartin and tuberin proteins which form an important heterodimer (TSC1-TSC2 complex) (3) key to regulating cell proliferation and differentiation of the mTOR (mammalian target of rapamycin) pathway. All of these mechanisms translate into the multisystem formation of benign noninvasive tumors, called hamartoma and distributed in tissues and organs such as: brain, kidneys, lungs, heart, eyes and skin. These anatomo-clinical manifestations were first published by Bourneville in 1880 (4). For this reason, Bourneville disease is a TS synonym.
A review of the pharmacotherapeutic considerations for managing epilepsy in people with autism
Published in Expert Opinion on Pharmacotherapy, 2022
Lance V Watkins, Maire O’Dwyer, Rohit Shankar
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes. TSC affects multiple systems and is associated with the early onset of polymorphic seizures that are more often than not treatment resistant. Early onset seizures is also associated with autism and developmental disabilities [64]. The functional effect of the TSC mutations is over activation of mammalian target of rapamycin (mTOR) protein complex [65]. A phase 3, randomized, double-blind, placebo-controlled study has demonstrated the efficacy and tolerability of adjunctive use of an mTOR Inhibitor (Everolimus) for treatment-resistant focal-onset seizures in TSC [66,67].
Focal cortical dysplasia: an update on diagnosis and treatment
Published in Expert Review of Neurotherapeutics, 2021
Tuberous sclerosis complex is a genetic disorder affecting multiple-organ systems, including the brain where cortical malformations and migrational abnormalities are a prominent feature. The histopathological, molecular, and physiological characteristics of tubers and radial migration lines are similar, if not identical, to FCD Type IIb [127]. TSC and FCD are both considered mTORopathies caused by a spectrum of pathogenic variants in the mTOR pathway genes leading to differential activation of mTOR signaling. Neuronal mTOR hyperactivity levels seem to correlate with the severity of epilepsy and associated neuropathology in a mouse model of TSC and FCD [128].