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102 Cards in this Set

  • Front
  • Back
Sporadic congenital disorder with port-wine stains in V1 ophthalmic distribution
Ilpsilateral leptomeningeal angiomas, phochromocytoma, can cause glaucoma, seizures, hemiparesis, mental retardation
Hamartomas in CNS, skin, organs; cardiac rhabdomyoma, renal angiomyolipoma, subependymal giant cell astrocytoma, mitra regurgitation, seizures, hypopigmented ash leaf spots, sebaceous adenoma, shagreen patch
Tuberous sclerosis
How is Tuberous sclerosis inherited?
Cardiac manifestations of tuberous sclerosis?
Mitral regurg
Cardiac rhabdomyoma
Skin manifestations of tuberous sclerosis
Hamartomas in CNS
Subependymal giant cell astrocytoma
NF1 on chromosome?
NF2 on chromosome?
Cafe-au-lait spots, Lisch nodules (pigmented iris hamartomas), neurofibromas in skin, optic gliomas, pheochromocytomas
Optic gliomas and pigmented iris hamartomas affecting every generation
NF1 - autosomal dominant

Cafe-au-lait spots, Lisch nodules (pigmented iris hamartomas), neurofibromas in skin, optic gliomas, pheochromocytomas
Cavernous hemangiomas of skin, mucosa, organs, bilateral renal cell carcinoma, hemangioblastoma in retina, brain stem, cerebellum, pheochromocytoma
Mutation in VHL?
Tumor suppressor VHL on chromosome 3 (autosomal dominant)
Associated with chronic hypertension; affects small vessels in basal ganglia, thalamus
Charcot-Bouchard microaneurysms
Rupture of berry aneurysms leads to?
Hemorrhagic stroke/subarachnoid hemorrhage
Berry aneurysms associated with?
Adult polycystic kidney disease

Age, HTN, smoking, race (blacks)
On CT, biconvex disk not crossing suture lines
Epidural hemorrhage

Can cross falx, tentorium
Epidural hemorrhage usually due to?
Rupture of middle meningeal artery (branch of maxillary artery)

Secondary to fracture of temporal bone
Complications of epidural hemorrhage
Rapid expansion under systemic arterial pressure --> transtentorial herniation (compression of corticospinal tracts), CN II Palsy
Rupture of bridging veins
Subdural hematoma
Subdural hematoma on CT?
Crescent-shaped hemorrhage that crosses suture lines

Gyri preserved (pressure distributed equally)
Subdural hematoma due to?
Rupture of bridging veins

Elderly, alcoholics, blunt trauma, shaken baby
Rupture of an aneurysm
Subarachnoid hematoma
Rupture of AVM
Subarachnoid hematoma

(or aneurysm) "Worst headache of life"
Bloody or yellow (xanthrochromic spinal tap) and nuchal rigidity is caused by what intracranial hemorrhage?
Patient with subarachnoid hemorrhage is at risk for?
2-3 days after: vasospasm due to blood breakdown products that irritate vessels
Treatment for vasospasm due to subarachnoid hemorrhage breakdown products
Beta blockers
Parenchymal hematoma caused by?
HTN, amyloid angiopathy, diabetes, tumor
Parenchymal hematoma typically occurs where?
Basal ganglia, internal capsule
Ischemic brain disease causes irreversible damage after how long?
5 minutes
Brain areas most vulnerable to ischemia
Watershed areas
Irreversible neuronal injury in ischemia - timeline?
Red neurons (12-48 hours)

Necrosis + neutrophils (1-3 days)

Macrophages (3-5 days)

Reactive gliosis + vasc proliferation (1-2 weeks)

Glial scar (>2 weeks)
Veins from face drain into?
Superior ophthalmic vein --> meet sphenoparietal sinus at cavernous sinus
Main location of CSF return via arachnoid granulations
Superior sagittal sinus
Wet, wobby, wacky
Normal pressure hydrocephalus

Normal CSF pressure; does NOT result in increased subarachnoid space volume
Normal pressure hydrocephalus leads to?
Expanded ventricles distorts fibers of corona radiata --> dementia, ataxia, urinary incontinence

(Wet Wild Wacky)
What causes normal pressure hydrocephalus?
Gradual blockage of CSF drainage (normal CSF pressure)
Decreased CSF absorption by arachnoid villi leading to increased ICP, papilledema, herniation
Communicating hydrocephalus

(e.g. arachnoid scarring post-meningitis)
Obstructive (noncommunicating) hydrocephalus due to?
Structural blockage of CSF circulation (e.g. stenosis of aqueduct of Sylvius)
Stenosis of Sylvius aqueduct causes?
Obstructive hydrocephalus
Paralysis of upward gaze (Parinaud's)

(most common in newborns)
Hydrocephalus ex vacuo seen in?
Alzheimer's, advanced HIV, Pick's
Subarachnoid space extends to?
Spinal cord extends to?
Seen in UMN lesion
Weakness, increased reflexes, tone, Babinski, spastic paralysis, clasp knife spasticity (increased resistance to passive stretch abruptly stops)
Seen in LMN lesion
Atrophy, fasciculation

Lowered reflexes, tone
Bilateral loss of pain and temperature sensation (C8-T1) with preservation of touch sensation
Syringomyelia (damages anterior white commissure of spinothalamic tract)
Syringomyelia associated with what congenital condition?
Arnold-Chiari II

(cerebellar tonsillar herniation through foramen magnum)
Cause of Arnold-Chiari type II?
Cerebellar tonsillar herniation through foramen magnum with aqueductal stenosis and hydrocephaly

Presents with syringomyelia and thoracolumbar myelomeningocele
Large posterior fossa; absent cerebellar vermis with cystic enlargement of 4th ventricle
Dandy Walker
What is missing in Dandy Walker malformation
Cerebellar vermis --> cystic enlargement of 4th ventricle

Can lead to hydrocephalus and spina bifida
LMN lesions only; due to destruction of anterior horns --> flaccid paralysis

Random and asymmetric lesions due to demyelination; presents with scanning speech, intention tremor, nystagmus
Multiple sclerosis
Combined UMN and LMN deficits with NO SENSORY DEFICITS
Degeneration of dorsal roots and dorsal columns; presents with impaired proprioception and locomotor ataxia
Tabes dorsalis (3 syphilis)
Demyelination of dorsal columns, lateral corticospinal tracts, spinocerebellar tracts

Present with ataxic gait, hyperreflexia, impaired position and vibration sense
Vit B12 neuropathy
Vit E deficiency
Friedriech's ataxia
Vit B12 neuropathy
Vit E deficiency
Friedriech's ataxia

Share what lesions?
Dorsal columns
Lateral corticospinal tracts
Spinocerebellar tracts
Poliovirus characteristics?
ss+ RNA, nonenveloped, icosahedral
Wernig-Hoffman inheritance?

Median age of death 7 months
ALS caused by?
Defect in SOD1

Betel nut ingestion
Friedreich's ataxia inheritance?
AR (GAA repeat; frataxin gene)
Friedreich's ataxia due to?
GAA repeat causes impaired mitochondrial function --> iron homeostasis disrupted, cells prone to apoptosis
Cause of death in Friedreich's ataxia
Hypertrophic cardiomyopathy
Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes in a child with scoliosis
Friedreich's ataxia
Parinaud's syndrome due to?
Lesion in superior colliculi (e.g. pinealoma) --> paralysis of conjugate vertical gaze
Opthalmoplegia, ophthalmic and maxillary sensory loss due to mass effect
Cavernous sinus syndrome
CNs in cavernous sinus
III, IV, V1, V2, VI, postganglionic sympathetic fibers
Hyperacusis from paralysis of stapedius muscle, inability to ipsilateral eye
Bell's palsy (destruction of VII nucleus or branchial efferent fibers)
Acute, painless monocular loss of vision; pale retina and cherry red macula
Retinal artery occlusion
Macula blood supply
Choroid artery
Retinal necrosis and edema leading to atrophic scar
Changes in lens due to aging
Sclerosis, decreased elasticity
Dilator/radial muscle function
alpha1 --> mydriasis
Sphincter/circular/constrictor muscle function
M3 --> miosis
Ciliary muscle function
M3 --> accomodation

Near vision (muscle contraction --> zonular fibers relax --> lens relaxes --> more convex)

Far vision (relaxation --> lens flattens)
Dry/atrophic ARMD due to?
Fat deposits --> gradual loss of central vision (scotoma)
Wet ARMD due to?
Neovascularization --> hemorrhage and cell death (rapid)
Visual pathway that loops around inferior horn of lateral ventricle
Meyer's loop (temporal lobe)

L/R upper quadrantic anopia
Visual pathway that goes through internal capsule
Dorsal optic radiation (parietal lobe)

L/R lower quandratic anopia
Early onset Alzheimer's genes
APP (21)

Presenilin-1 (14)

Presenilin-2 (1)
Late onset Alzheimer's genes
ApoE4 (19)
Protective gene in Alzheimer's
ApoE2 (19)
Dementia, aphasia, parkinsonian aspects, changes in personality that spares parietal lobe and posterior 2/3 of superior temporal gyrus

(frontotemporal dementia)
What are Pick bodies?
Intracellular, aggregated tau protein
Lewy body dementia features?
Parkinsonism with dementia and hallucinations

alpha-synuclein defect with Lewy bodies
Lewy bodies are?
eosinophilic, intracellular inculsions
Dementia with myoclonus; bubbles and holes seen on imaging

(prions --> alpha helix to beta sheets resistant to proteases)
Second most common cause of dementia in elderly
Causes of dementia
Lew body
Vit B12
Periventricular plaques (areas of oligodendrocyte loss and reactive gliosis) with preservation of axons
Demyelination of CNS due to destruction of oligodendrocytes; rapidly progressive, fatal
Progressive multifocal leukoencephalopathy (PML)

Associated with JC virus (polyomavirus - DS DNA, circular)
JC virus is a?
Polyomavirus - dsDNA, circular

Associated with PML
Multifocal perivenular inflammation and demyelination after infection (chickenpox, measles) or vaccinations (rabies, smallpox)
Acute disseminated (postinfectious) encephalomyelitis
Acute disseminated encephalomyelitis occurs when?
After infection (chickenpox, measles) or vaccinations (rabies, smallpox)
Metabolic disease featuring central and peripheral demyelination with ataxia, dementia
Metachromatic leukodystrophy (arysulfatase A deficiency --> buildup of sulfatides)
Buildup of sulfatides in metachromatic leukodystrophy causes?
Impaired production of myelin sheath

Direct toxicity to oligodendrocytes and Schwann cells
Hereditary nerve disorder --> defective production of proteins involved in structure and function of peripheral nerves or myelin sheath
Peroneal nerve neuropathy, atrophy of leg muscles; "inverted bottle" appearance in AD inheritance
Partial seizures original from?
Mesial temporal lobe

Simple (consciousness intact)
Unilateral; 4-72 hours of pulsating pain with nausea, photophobia, phonophobia, +/- aura
Migraine due to?
Irritation of CN V and release of substance P, calcitonin gene-related peptide, vasoactive peptides
Treatment of migraines?
Propanolol, NSAIDS, sumatriptan (acute)
Bilateral; > 30 minutes of steady pain; no aura, not aggravated by light or noise
Tension headache
Unilateral; repetitive brief headaches

Periorbital pain, ipsilateral lacrimation, rhinnorhea, Horner's
Cluster headache