Neuro Shit Flashcards
Sturge-Weber Syndrome
Encephalotrigeminal Angiomatosis
-Congenital, non- inherited (somatic) Neurocutaneous disorder
- Developmental anomaly of Neural crest derivatives
-Activating Mutation GNAQ gene
- Small vessel dz:
Portwine Stain on face in V1 V2 distribution
Ipsilateral leptomeningeal angioma -> seizures
intellectual disability
Episcleral Hemangioma with ^IOP–> glaucoma early
Tuberous Sclerosis
HAMARTOMAS
Hamartomas in CNS and Skin- autosomal dominant Angiofibromas, Mitral regurgitation, Ash leaf skin spot (hypo or hyper pigmented) Rhabdomyomas cardiac Tuberous sclerosis dOminant Mental Retardation Angiomyolipomas (bilateral Renal) Seizures
Neurofibromatosis - 1 (NF-1)
Mutated Tumor Supressor Gene on Chromosome 17
- neurofibrimin a negative reulator of RAS
Autosomal dominant
Cafe au-lait spots ,
lisch nodules (pigmented iris hamartomas)
cutaneous neurofibromas (big nasty ones on back)
optic gliomas
pheochromocytoma (also MEN 2a/2b, VHL)
Neurofibromas are from neural crest.
Neurofibramatosis- 2 (NF-2)
bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas,
NF2 (tumor supressor gene) = chromosome 22 = 2 (bilateral) acoustic schwannomas.
Von- Hippel Lindau Dz
Mutation on Chromosome 3 - Autosomal Dominant
Cerebellar Hemangioblastomas,
Hereditary Bilateral Renal Cell Carcinomas (clear cell)
Cavernous hemangiomas and Retinal Hemangiomas
Pheochromocytoma
Cingulate (Subflcine) Herniation
Herniation under Falx cerebri
Can compress - Anterior Cerebral Artery
- lower leg weakness and sensory loss
Central (Transtentorial) herniation
- Caudal Displacement of brain stem
- Rupture of paramedian basilar artery branches (DURET HEMORRHAGE)
Early compresses- becoming ischemic and necrosis-
later causes bleeding when ICP is corrected
Uncal Herniation
Uncus= medial temporal lobe
- Compresses ipsilateral CNIII (blown pupil - down and out)
- Ipsilateral PCA - (contralateral homonymous hemianopsia with macular sparing)
- Contralateral Crus cerebri at the Kernohan notch (anterior cerebral peduncle on the other side)- giving you ipsilateral paresis “false localization”
Glioblastoma Multiforme
Grade IV astrocytoma
Common Highly malignant Primary
Found in the cerebral hemispheres-
Butterfly Glioma crosses corpus callosum
GFAP +
Features:
-Pseudopallisading (border areas of necrosis) pleomorphic cells
- Central areas of Necrosis and Hemorrhage
Meningioma
Primary brain tumor - near surface of brain and parasagittal
Arises from arachnoid cells - extra axial (external to parenchyma) with dural attachments
Present with seizures and focal signs.
Features:
Spindle cells concentrically arranged in a whorled pattern - psammoma bodies
Hemangioblastoma
Usually cerebellar- associated with VHL Dz when found with retinal hemangiomas.
Can produce eythropoietin and 2ndary polycythemia
Features:
closely arranged thin walled cappilaries minimal parenchyma
Schwannoma
Classically at the Cerebellopontine angle, often localized to CN VIII
Bilateral vestibular acoustic schwannomas are associated with NF-2 (Chr. 22) Tumor suppressor gene
S100+
Oligodendroglioma
Fried egg cells- slow growing - frontal lobes
Pilocytic Astrocytoma (low grade)
-Childhood primary tumor-
-well circumscribed, in posterior fossa in children
GFAP +
- Rosenthal Fibers- eosinophilic corkscrew fibers
Medulloblastoma
- Childhood primary brain tumor
- Highly malignant cerebellar tumor
- Neuroectodermal tumor (small blue cell)
- compress 4th ventricle causing hydrocephalus
- Drop Metastasis to spinal cord
Homer-wright rosettes, small blue cells
Ependymoma
Ependymal cell tumor- by 4th ventricle- can cause hydrocephalus
Perivascular rosettes
Basal ciliary bodies near the nucleus.
Craniopharyngioma
Most common childhood tumor, supratentorial, compresses pituitary and causes growth retardation
derived from oral/neuroectoderm Rathkes pouch
-Cholesterol crystals found in motor oil fluid
Pinealoma
Tumor of pineal that can cause Perinauds syndrome- Vertical gaze palsy, with obstructive hydrocephalus. (cerebral aqueduct compression).
precocious puberty in males (Beta - HCG production)
Alzheimers Dz
Elderly and Down Syndrome (APP is on chromosome 21)
Associated with:
Apo E2- Decreased risk for sporadic form
Apo E4- increased risk for sporadic form
APP, presenilin-1 and presenilin-2 - familial early onset
Features:
- Decrease in ACh
- Cortical Atrophy, narrow gyri and wide sulci
- Senile plaques- extracellular Beta amyloid may cause amyloid angiopathy- intracranial hemorrhage.
- Neurofibrillary tangles- intracellular hyperphosphorylated tau protein (microtubule stabilizing protein).
Fronto-temporal Dementia
Early changes in personality and behavior (rather than memory). Beahavior and Aphasia (primary progressive variant)
May have associated movement disorders like parkinson or ALS like.
Hyperphosphorylated tau (ROUND not Tangles) and ubiquitinated TDP43.
Lewy Body Dementia
Initially dementia and visual hallucinations
followed by parkinsons features
rapid onset dementia and symptoms.
Intracellular Lewy Bodies ( alpha synnuclein) primarily in the cortex NOT the substantia like parkinsons.
Vascular Dementia
Multiple microinfarcts and chronic ischemia
Step wise decline in cognitive ability with late onset memory impairments.
Hippocampus and pyramidal neurons firs to go
Multiple Sclerosis
Autoimmune inflammation and demyelination of CNS
Autoimmune against oligodendrocytes
Present with optic neuritis ( marcus gunn pupil), INO hemiparesis hemisensory bladder/bowel dysfunction
Charcot Triad:
Scanning speech
Nystagmus
Intention tremor
Increased IgG level and myelin basic protein in CSF with oligoclonal bands.
Periventricular plaques, ( oligodendrocyte loss with reactive gliosis)
Tx: Natalizumab and Glatriamer and Interferon- Beta
Acute Disseminated (postinfectious) encephalomyelitis
Multifocal periventricular inflammation, and demyelination after infection or vaccination.
Rapdily progressive neuro symptoms
