Neuro Tumours - Neurofibromatosis, Tuberous Sclerosis Flashcards
Neurofibromatosis 1
-genetics and pathophysiology
-presentation
-investigations
-management
AD - affecting nerve growth regulation
NF1 - von Recklinghausen’s syndrome
-C17
Cafe au lait spots
Axillary groin freckles
Peripheral neurofibromas
Lisch nodules - iris harmatomas
Scoliosis
Pheochromocytoma
LDs, ADHD, autism
NF2 - much rarer
-C22
Bilateral vestibular schwannomas
Multiple intracranial schwannomas, meningiomas, ependymomas
Diagnosis is based on clinical features
Management focuses on symptom management - MDT approach
Tuberous sclerosis
-genetics and pathophysiology
-presentation
-diagnosis
-management
AD - abnormal cell growth and development
Cutaneous
-depigmented ashleaf spots
-Shagreen patches
-angiofibromas around nose
-fibromas under nails
-cafe au lait spots
Neuro
-developmental delay
-epilepsy
-intellectual impairment
-retinal hamartomas
Diagnosis based on clinical criteria or genetic testing
MDT management
-mTOR inh (everolimus)
Brain tumours
-characteristics
-most common in adults and children
Majority of adults tumours - supratentorial
Majority of paeds tumours - infratentorial
Most common supratentorial in paeds - craniopharyngioma
Most common brain in tumour - brain mets
Most common adult brain primaries
1. glioblastoma
2. meningioma
Most common paeds brain primaries
1. pilocytic astrocytoma (glioma)
2. ependymona
3. medulloblastoma
Brain mets
-most common primaries
-management options
1st - lung
2nd - breast
3rd - bowel, skin, kidney
Surgery
RT - stereotactic or whole brain
DEX IS SUPER USEFUL IN TAKING DOWN EDEMA FROM THE OTHER TREATMENTS AND FOR SYMPTOMATIC RELIEF
Glioblastoma multiforme
-imaging findings
-management
Solid tumour with central necrosis
Contrast enhancing rim - pleomorphic tumour cells
Vasogenic edema
Surgery + postop chemo/RT
Dex for edema
POOR PROGNOSIS OF U1YEAR
Meningioma
-imaging findings
-management
Benign extrinsic tumours from arachnoid cap
Next to dura => symptoms from compression
CONTRAST ENHANCED CT
Spindle cells in concentric whirls and calcified psammoma bodies
Observation
RT
Surgery
Vestibular schwannoma
-associations
-imaging findings
-management
Compression of CN5, 7, 8
Bilateral - NF2
Gadolinium enhanced MRI - CPA
Observation
RT
Surgery
Pilocytic astrocytoma
-histology findings
Rosenthal fibres - corkscrew eosinophilic bundles
Medulloblastoma
-histology findings
-management
Small blue cells
Rosette pattern of cells with many mitotic figures
Spreads via CSF
Surgical resection
Chemo
Ependymoma
-histology findings
Perivascular pseudorosettes
In 4th ventricle => hydrocephalus
Ependymal cells produce CSF
Oligodendroma
-histology findings
Calcification with fried egg appearance
Benign slow-growing tumour in frontal lobes
Hemangioblastoma
-histology
-associations
Foam cells and high vascularity
Vascular tumour of cerebellum
-vHL syndrome
