Neurology Flashcards
Dandy Walker malformation
A genesis or hypoplasia of cerebella vermis, cystic dilation of fourth ventricle, enlargement of posterior fossa
Anterior cerebral artery supply
Medial, frontal, parietal lobes, caudate
Middle cerebral artery supplies
Lateral hemispheres
Posterior cerebral artery supplies
Midbrain, occipital lobes, inferior temporal lobes
Cerebral perfusion pressure (CPP)
CPP = MAP - ICP
Differential of neonatal encephalopathy
Metabolic Infectious Thromboembolic Intracranial hemorrhage Genetic syndromes Hypoxic-ischemic
Neonatal encephalopathy not HIE. Work up
Ammonia, urine ketones
Consider: imaging, echo, PAA, urine AA, UOA, acylcarnitine profile
Additional work up for refractory seizures not HIE
EEG
MRI
plasma and csf studies including AA and pipecolic acid and lactate, glucose
Biotinidase level
Plasma uric acid, urine sulphites, urine purine, FAs, copper and ceruplasmin
Consider gene panel
Diffuse selective neuronal injury d/t
Severe prolonged insults
Cerebral cortex deep nuclear structure injury d/t
Moderate to severe relatively prolonged insults
Deep nuclear structures (basal ganglia, thalamus, globus pallidus) injury d/t
Severe abrupt insult
Proposed mechanism of periventricular hemorrhagic infarction
IVH obstructs BF in terminal vein leading to venous infarction in distribution of medullary veins (drain the cerebral white matter into the terminal vein)
Hypoglycemia neuropathology
Most common pattern of injury is bilateral posterior occipital cortex but can be diverse and include MCA infarction and basal ganglia/thalamic abn
Risk of injury related to duration of hypoglycemia rather than degree of hypoglycemia
Disorders of LMN
Anterior horn (hypoxic-ischemic myelopathy, SMA, neurogenic arthrogryposis)
NMJ (transient or congenital myasthenia gravis, drugs impacting acetylcholine release - aminoglycoside toxicity, c botulinum, c tetani, hypermag)
Muscle (congenital myopathy - myotubular myopathy; muscular dystrophy - congenital myotonic dystrophy, congenital muscular dystrophy, duchenne dystrophy)
Metabolic and multi system (phoshpofructokinase deficiency, peroxisomal disorders, mitochondrial disorders, pompe disease, debrancher deficiency, carnitine deficiency, phosphorylase deficiency)
Phenobarbital MOA
Increase time Cl channels are open by acting on GABA-A receptor which depresses the CNS
Phenytoin MOA
Blocks voltage gated Na channels, thus blocking repetitive firing of action potentials
Levetiracetam MOA
Binding to the synaptic vesicles protein SV2A reducing the rate of vesicle release
Midazolam MOA
Increases GABA activity
Lidocaine MOA
Blocks Na channels but true MOA of AED unknown
Topiramate MOA
Blocks Na channels and enhances GABA activated Cl channels and inhibits excitatory NTs
Bumetanide MOA
Inhibits Na-K-Cl co transporter and is effective for temporal lobes epilepsy with altered chloride homeostasis
Neurocutaneous syndromes
Sturge-Weber Tuberous sclerosis Neurfibromatosis McCune Albright Von Hippel Lindau
Tuberous Sclerosis
AD
Ch 9, 16
Ash leaf macules
CNS tumors, eye involvement, seizures, rhabdomyomas
Neurofibromatosis
AD Ch 17 Cafe au lait spots Freckled axillae, inguinal, perineum Macrocephaly, aqueductal stenosis Associated tumors Seizures
McCune Albright
Sporadic Fibrous dysplasia of bones Precocious puberty Hyperthyroidism Hyperparathyroidism Pituitary adenomas
Von Hippel Lindau
AD Ch 3p Over expression of transcription factor hypoxia-inducible factor which leads to increased tumor growth CNS tumors Systemic hemangiomata Retinal angiomas Pheochromocytomas
