『Neuro: Tuberous Sclerosis: Free MSRA Podcast』のカバーアート

Neuro: Tuberous Sclerosis: Free MSRA Podcast

Neuro: Tuberous Sclerosis: Free MSRA Podcast

無料で聴く

ポッドキャストの詳細を見る

このコンテンツについて

 🎧🧠 MSRA DEEP DIVE: Tuberous Sclerosis — High-Yield Made SimpleWelcome back to another focused Deep Dive! Today we’re breaking down Tuberous Sclerosis Complex (TSC) — a complex but HIGH-YIELD multisystem condition. Perfect for your MSRA prep 🚀🔑 Core MSRA Revision Summary📌 Definition• Rare genetic multisystem disorder• Characterised by benign tumours (hamartomas) in multiple organs: brain, skin, kidneys, heart, lungs, eyes• Also called Tuberous Sclerosis Complex (TSC)📌 Genetics & Pathophysiology• Mutations in TSC1 (hamartin) or TSC2 (tuberin) genes• 🧬 Affects the mTOR pathway → uncontrolled cell growth → hamartomas• TSC2 mutations = more severe phenotype• 75–80% = sporadic (de novo); 20–25% = inherited (autosomal dominant, 50% risk if parent affected)📌 Epidemiology• Prevalence: 1 in 10,000• Incidence: ~1 in 5,800 births• Equal sex & ethnic distribution• ⚠️ Huge variability in presentation & severity📌 Clinical Features🩺 Skin (early & key clue):• Ash-leaf spots (hypomelanotic macules, fluoresce under Wood’s lamp)• Shagreen patches (lower back, leathery texture)• Facial angiofibromas (adenoma sebaceum – butterfly pattern)• Forehead plaques• Subungual fibromas (nails)• Cafe-au-lait spots may occur but NOT diagnostic🧠 Neurology:• Seizures (infantile spasms, focal, GTC seizures)• Developmental delay, intellectual disability• Autism, ADHD, behavioural issues• Cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytomas (SEGAs)👁 Ophthalmology:• Retinal hamartomas (phacomata)❤️ Cardiology:• Cardiac rhabdomyomas (may regress spontaneously)• Rarely arrhythmias (WPW)🩺 Renal:• Angiomyolipomas (AMLs)• Polycystic kidney disease• Risk of haemorrhage, hypertension, renal failure🫁 Pulmonary:• Lymphangioleiomyomatosis (LAM) — more common in females• Multifocal micronodular pneumocyte hyperplasia (MMPH)📌 Differential Diagnosis• Neurofibromatosis• Sturge-Weber syndrome• Neurocutaneous melanosis• von Hippel-Lindau syndrome• MEN1📌 Investigations• Full clinical history & exam• 🧬 Genetic testing (TSC1/TSC2)• MRI brain (tubers, SENs, SEGAs – urgent if SEGA suspected)• Renal MRI/CT → AMLs, cysts• Fundoscopy → retinal hamartomas• Wood’s lamp → ash-leaf spots• EEG → epilepsy workup• ECG → arrhythmias, WPW• Echocardiography → rhabdomyomas• Yearly renal function, BP, and urinalysis• HRCT chest if respiratory symptoms (LAM)📌 Management• 🔑 Multidisciplinary approach: neurology, dermatology, nephrology, cardiology, pulmonology, genetics, developmental paediatrics• Anti-epileptic drugs for seizures• Vagal nerve stimulation (VNS) or epilepsy surgery for refractory epilepsy• Behavioural support, tailored education plans• mTOR inhibitors (e.g. everolimus) for SEGAs, AMLs, and sometimes LAM• Surgery: AML bleeding, SEGA growth, skin lesion removal• Yearly surveillance for all organ systems• Genetic counselling for family planning📌 Complications• Intractable epilepsy• Intellectual disability• Renal haemorrhage or failure• SEGAs causing hydrocephalus• Respiratory failure (LAM)📌 Prognosis• Lifelong condition; highly variable course• Early diagnosis & regular monitoring = better outcomes• Good prognosis for SEGA if monitored & treated early• Ongoing research into targeted MTOR therapy 💊📚 Extra MSRA Revision Resources📝 Revision Notes:https://www.passthemsra.com/topic/tuberous-sclerosis-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/tuberous-sclerosis-flashcards/💬 Accordion Q&A:https://www.passthemsra.com/topic/tuberous-sclerosis-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/tuberous-sclerosis-rapid-quiz/🎓 MSRA Neurology Course:https://www.passthemsra.com/courses/neurology-for-the-msra/#MSRA #MSRARevision #TuberousSclerosis #NeurologyMSRA #MSRAFlashcards #MSRAQuiz #HighYieldMSRA #NeurologyRevision #PassTheMSRA

Neuro: Tuberous Sclerosis: Free MSRA Podcastに寄せられたリスナーの声

カスタマーレビュー：以下のタブを選択することで、他のサイトのレビューをご覧になれます。

Audible.co.jp

Amazon.co.jp
レビューはまだありません。