Neuro: Neurofibromatosis: Free MSRA Podcast

🎧🧬 MSRA DEEP DIVE: Neurofibromatosis (NF1, NF2 & Schwannomatosis) — High-Yield RevisionToday we break down one of the most exam-tested neurogenetic disorders for MSRA — Neurofibromatosis (NF) 🔬🔑 Core Revision Summary📌 Definition• Genetic disorder causing nerve tumors 🧠• 3 types: NF1 (von Recklinghausen’s), NF2, Schwannomatosis• Key: tumor suppressor gene mutations📌 Genetics & Pathophysiology• NF1: NF1 gene (chromosome 17q11.2) → neurofibromin dysfunction• NF2: NF2 gene (chromosome 22) → merlin dysfunction• Autosomal dominant inheritance (50% chance)• ~50% de novo mutations in both NF1 & NF2• 100% penetrance (NF1), variable expressivity📌 Epidemiology• NF1: ~1 in 3000 births (96% of NF cases)• NF2: ~1 in 33,000 births• No gender or ethnic bias📌 NF1 Key Features• ≥6 Café-au-lait spots (size-dependent on age)• Axillary/inguinal freckling• ≥2 neurofibromas or 1 plexiform neurofibroma• Optic gliomas• ≥2 Lisch nodules (iris)• Bony lesions (sphenoid dysplasia, pseudoarthrosis)• 1st degree affected relative📌 NF2 Key Features• Bilateral vestibular schwannomas (hallmark 🎧)• Hearing loss, tinnitus, balance issues• Meningiomas, ependymomas, spinal tumors• Juvenile cataracts• Family history + unilateral schwannoma or multiple other lesions📌 Schwannomatosis• Multiple schwannomas excluding vestibular nerve• Chronic severe pain main feature📌 Complications• NF1: Malignant peripheral nerve sheath tumor (MPNST) 🧨• Optic glioma → vision loss• Skeletal: scoliosis, pseudoarthrosis• Pheochromocytoma → hypertension• Learning difficulties, ADHD• Psychological & cosmetic burden• NF2: Brainstem compression, hearing loss, progressive disability📌 Investigations• Clinical diagnosis primary ✅• Genetic testing: confirmatory but not first-line• MRI: brain/spine tumors, optic glioma, hydrocephalus• Ophthalmology: Lisch nodules (NF1), cataracts (NF2)• Audiology: hearing tests (NF2)• X-rays for skeletal issues📌 Management🎯 NF1• Monitor neurofibromas (surgery if symptomatic)• Plexiform: surgery, selumetinib (licensed for children)• Manage learning, vision, skeletal & BP issues🎯 NF2• MRI monitoring, hearing preservation• Surgery/radiation for vestibular schwannomas• Bevacizumab (VEGF inhibitor) for tumor control🎯 Schwannomatosis• Pain control, selective schwannoma resection📌 Prognosis• NF1: Variable; many live full lives• NF2: Worse prognosis; brainstem & hearing complications• Early detection = better outcomes for both📌 Genetic Counselling• 50% inheritance risk• Prenatal testing & PGD available• Cannot predict severity if gene is passed📚 Extra MSRA Revision Resources📝 Revision Notes:https://www.passthemsra.com/topic/neurofibromatosis-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/neurofibromatosis-flashcards/💬 Accordion Q&A:https://www.passthemsra.com/topic/neurofibromatosis-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/neurofibromatosis-rapid-quiz/🧪 MSRA Quiz Bank:https://www.passthemsra.com/quizzes/neurofibromatosis/🎓 MSRA Neurology Course:https://www.passthemsra.com/courses/neurology-for-the-msra/#MSRA #MSRARevisionNotes #MSRANeurofibromatosis #MSRAFlashcards #MSRAQANotes #MSRAQuiz #Neurology #NF1 #NF2 #Schwannomatosis #HighYieldMSRA