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313 Cards in this Set

  • Front
  • Back
Sharp burning groin pain
Ilioinguinal n
Weakness in abduction, rotation of hip
Gluteal n
Lateral thigh pain with weakness; pt with heavy, tight belt
Lateral femoral cutaneous n
Quad and psoas weakness; abnormal sensory at anterior thigh and medial calf
Femoral n
Cardiopathy, peripheral nerve weakness/sensory, anemia, encephalopathy; hemorrhage and necrosis at 3rd ventricle
Thiamine deficiency (B1)
Hx chemotherapy exposure, loss of 2pv, hearing loss, NO analgesia
Cisplatin neuropathy
Ataxia, motor spasticity, ± seizures
Cerebral palsy
Adolescent w h/a, neck pain, incr urinary frequency, progressive ataxia & LE spasticity
Chiari type 1
Infant w resp distress, stridor, apnea, facial weakness, ± myelomeningocele, SHORT occiput
Chiari type 2
Incr ICP, ataxia, progr head enlargement, LARGE occiput
Dandy-Walker syndrome
Kids, h/a, fever, focal neuro s/s, can have incr ICP w lesion expansion
Brain abscess
Café au-lait spots, dermal lesions, glioma on optic n, pigmented nodules on iris (PERIPHERAL)
Neurofibromatosis type 1 - chr 17 neurofibromin (on RAS tumor-supr pathway)
B/L CN 8 schwannomas, multiple menigniomas, ependymomas, nodular schwann cell growths (CENTRAL)
Neurofibromatosis type 2 - chr 22 merlin (cytoskeleton)
Unable to raise arm overhead, scapular winging
Long thoracic n (serratus anterior m)
Scapular winging during arm abduction, C5-6 pain distribution
Dorsal scapular n (rhomboids & levator scap)
Weak initiation of arm abduction and external rotation
Suprascapular n ( supraspinatus & infraspinatus)
Diff deviation to pinky side, sensory deficit at 4th and 5th digits
Ulnar n
Weak forearm flexion
Musculocutaneous n
Inability to pronate forearm, diff deviation to thumb side, sensory loss at palm, can't hold thumb-forefinger circle
Median n
Weakness during middle of arm abduction, sensory loss at outer shoulder
Axiallary n (teres major & deltoid)
Rapid progression memory loss, behavioral change; myoclonus, ataxia, akinetic mutism
Prion disease
Hyperreflexia, EARLY incontinence, upper and lower motor neuron signs, B/L sensory and motor deficits, saddle anesthesia
Conus medullaris syndrome
Hearing loss; Mm of mastication/facial sensory loss
Schwannoma (Benign, adheres to nerve, non-penetrative)
Kids, sweating, HTN b/c present at adrenal glands; opsomyoclonus (dancing feet/eyes)
Neuroblastomas
Infant w abn head enlargment; child w incr DTR, spasticity, clonus; older kid w irritability, lethargy, poor appetite, vomiting, h/a
Hydrocephalus
Clouding of lens with slowly progressive image blur and increased near vision, NORMAL pupil response
Cataracts
Buildup of drusden in Bruch's membrane; slowly progressive vision loss
Macular degeneration
Changes in optic cup and changes in intraocular pressure leading to loss of vision
Glaucoma
Increased vascularity of retina disrupts ability of light to penetrate retina; progressive loss of vision
Diabetic retinopathy
Rare infection between dura and bone
Epidural abscess
Truncal ataxia w atrophy of cerebellar vermis
Ethanol toxicity
Change in consciousness, confusion, incr psychomotor activity; progresses to coma, abn reflexes, seizures
Hepatic encephalopathy (assoc w incr ammonia)
Recurring U/L face, head, neck, jaw pain, lasting 4-72h, photophobia, nausea, ± aura
Migraine h/a (due to small afferent fibers of CN 5)
Nystagmus, lateral gaze or rectus palsy, gait ataxia, confusion, learning/memory deficit, confabulation
Wernicke-Korsakoff syndrome
20-30's, EPISODIC sensory loss, optic neuritis, weakness, paresthesias; demyelination
Multiple sclerosis (plaques on imaging w/in white matter at angle of lat ventricles)
Afebrile, h/a, neck stiffness, incr ICP, incr lymphocytes and protein, normal glucose in CSF, mass effect on surrounding structure
Subdural empyema
Adults w h/a, no n/v, no photophobia, pain lasts 30m - 7d
Tension h/a
Rapid onset periobital h/a, U/L pain, I/L lacrimation, congestion, partial Horner's
Cluster h/a
Facial nevus on U/L V1 dist'n, I/L glaucoma, seizures, some MR
Sturge-Weber syndrome
Infants w rapid onset fever to >39, gen tonic-clonic seizure for seconds-minutes
Febrile seizures
Trauma w rapid velocity changes; chg in consciousness, h/a, hemiparesis, aphasia, HTN, U/L pupil dilation & motor palsy
Subdural hematoma (crescent shape, don't cross midline, can cross suture lines)
Hx falls, MVC, violence; h/a, syncope, n/v, diff concentrating, blurred vision
Traumatic brain injury
Hx previous viral illness, fever, malaise; s/s spinal cord transection
Myelitis
Saddle anesthesia, motor/sensory loss LE, sciatica, LATE incontinence, areflexia, lower motor neuron signs
Cauda equina syndrome
Discomfort at trapezius ridge, supraclavicular & infraclavicular fossa, pain/numb at C8-T1 dist'n
Thoracic outlet syndrome
Hepatitis/cirrhosis, dystonia, ataxia, tremor, autonomic dysfxn, memory loss, migraines, seizures, behav disturbance
Wilson's disease
Kids, tumor in cerebellum, ataxia, incr ICP, visual deficit, CN deficit
Pilocytic astrocytoma
Tumor of 4th ventricle; < 3yo, vomiting, ataxia, h/a, lethargy, incr head circumf; older kids, ataxia, nystagmus, gaze palsy, hemiparesis
Ependymoma
Acute onset back pain w radiation to legs, LE weakness, incontinence, analgesia
Anterior spinal syndrome
Mass in abdomen near adrenals with calcification, elevated homovanillic acid and vanillylmandelic acid in urine
Neuroblastomas
Insidious slow loss of visual fields, painless, often increased intraocular pressure
Open angle glaucoma
Acute, painful red eye with progressive loss of visual fields from periphery to fovea
Closed angle glaucoma
Diffuse bruising of eye
Subconjunctival hemorrhage
Highly visible veins/arteries in sclera
Conjunctival hyperemia
Redness extending from around iris
Ciliary flush
White opacities of cornea caused by scar tissue
Corneal leukomata
Procedure allows detection of irregularities in corneal epithelium
Flourescein staining
Layered pus in anterior chamber of eye
Hypopeon
Layered blood in anterior chamber of eye
Hyphema
Most common source of decreased vision in US
Cataracts
Monocular diplopia
Cataracts
p53 mutations
Glioblastoma, Fibrillary astrocytoma
Glial tumors w/in CNS, contrast-enhancing on imaging due to leaky vessels
Glioblastoma
Late childhood, diff running, ankle sprains, foot slap, high arches, hammer toes
Charcot-Marie-Tooth
Infant, hypotonia, atrophy, decr DTR, bulbar signs
SMA type 1 (auto recess w degen alpha motor neurons)
6-12 m/o, can't walk, weakness, NO bulbar involvement, ± scoliosis
SMA type 2 (auto recess w degen alpha motor neurons)
>12 m/o, do walk, proximal weakness, slow progression
SMA type 3 (auto recess w degen alpha motor neurons)
Previous injury, paresis, burning pain, altered skin temp/color, edema
Complex regional pain syndrome
Elderly, sudden severe U/L episodic pain at lips, gums, cheek, chin
Trigemina neuralgia (CN 5 root compression by SCA)
Fatigue, flu-like s/s, h/a, n/v, aseptic meningitis, hx of outdoor exposure
Lyme disease
Oligoarticular arthritis or synovitis, neuritis incl facial palsy
Lyme disease
Sharp burning groin pain
Ilioinguinal n
Dermatomal itch, burning, pain, vesicular eruption
Varicella Zoster - Shingles
Rapidly progressing weakness from legs up, arthralgia, back pain, hyporeflexia
Guillan-Barre syndrome (axon demyelination, self-limited)
Kids 3-5 y/o, delayed motor devel w loss of strength, Gower's sign, limited ROM, calf pseudohypertrophy
Duchenne's MD (X-linked, dystrophin - connects contractile elements to ECM)
Weakness in abduction, rotation of hip
Gluteal n
Subacute or chronically evolving mononeuropathy multiplex, or symmetric polyneuropathy
Vasculitic neuropathy
Lateral thigh pain with weakness; pt with heavy, tight belt
Lateral femoral cutaneous n
Kids 5-15 y/o, SLOW progression of weakness, proximal LE weakness, calf pseudohypertrophy
Becker's MD (X-linked, dystrophin - connects contractile elements to ECM)
Quad and psoas weakness; abnormal sensory at anterior thigh and medial calf
Femoral n
Increased mitochondrial iron levels, defect on chromosome 9
Freidrich's ataxia (frataxin, auto rec GAA repeats)
Early closure of sagittal suture
Schizencephaly
Cardiopathy, peripheral nerve weakness/sensory, anemia, encephalopathy; hemorrhage and necrosis at 3rd ventricle
Thiamine deficiency (B1)
Early closure of metopic suture
Trigonocephaly
Hx chemotherapy exposure, loss of 2pv, hearing loss, NO analgesia
Cisplatin neuropathy
Early closure of coronal suture
Frontal plagiocephaly
Ataxia, motor spasticity, ± seizures
Cerebral palsy
Adolescent w h/a, neck pain, incr urinary frequency, progressive ataxia & LE spasticity
Chiari type 1
Early closure of lambdoid suture
Occipital plagiocephaly
Infant w resp distress, stridor, apnea, facial weakness, ± myelomeningocele, SHORT occiput
Chiari type 2
Deformity of head based on positioning/resting/weight bearing
Positional plagiocephaly
Proximal LE weakness, ptosis, diplopia, ABSENT DTRs, dry mouth
Eaton-Lambert syndrome (Ca channel defect at presynaptic neuron)
Incr ICP, ataxia, progr head enlargement, LARGE occiput
Dandy-Walker syndrome
Fatigueable weakness starting at face, ocular, cranial muscles, B/L or U/L, NORMAL DTRs, NORMAL sensory function
Myasthenia Gravis (Ach receptor shortage due to antibody attack)
Kids, h/a, fever, focal neuro s/s, can have incr ICP w lesion expansion
Brain abscess
Adolescent/adult onset of exercrise intolerance, especially brief exercise of high intensity; rhabdomyolysis and dark urine
McArdle's disease (defect in glycogen storage in muscle)
Café au-lait spots, dermal lesions, glioma on optic n, pigmented nodules on iris (PERIPHERAL)
Neurofibromatosis type 1 - chr 17 neurofibromin (on RAS tumor-supr pathway)
B/L CN 8 schwannomas, multiple menigniomas, ependymomas, nodular schwann cell growths (CENTRAL)
Neurofibromatosis type 2 - chr 22 merlin (cytoskeleton)
Late childhood gait abnormalities, sustained muscle contractions, weakness hands then face, elongated face w open mouth
Myotonic dystrophy (DMPK for cell communication, auto dominant CTG repeat at chr 19)
Unable to raise arm overhead, scapular winging
Long thoracic n (serratus anterior m)
Hx trauma w brief LOC and "lucid interval", increasing h/a, n/v, drowsiness, focal signs progressing to B/L and posturing
Epidural hematoma (lens shape on CT, rapidly expand, injury to meningeal a, can cross midline, not cross suture lines)
Scapular winging during arm abduction, C5-6 pain distribution
Dorsal scapular n (rhomboids & levator scap)
Progressive ataxia, numb/tingling LE, weak/spastic/incr DTR, diffuse and symmetric, dementia, pernicious anemia
Subacute combined degeneration (B12 deficiency, degen of lat and posterior spinal cord)
Increased pain and suffering out of proportion to injury, refractory to treatment
Chronic pain
Weak initiation of arm abduction and external rotation
Suprascapular n ( supraspinatus & infraspinatus)
Diff deviation to pinky side, sensory deficit at 4th and 5th digits
Ulnar n
U/L cramping hand muscles progress to B/L, can have upper and lower motor neuron signs with bulbar involvement; NO sensory defects
Amyotrophic Lateral Sclerosis (death of motor neurons at ventral horn, brainstem nuclei, bulbospinal and corticospinal tracts)
Weak forearm flexion
Musculocutaneous n
Confusion, seizures, fever and U/L edema on a scan
Herpes HSV-1
Inability to pronate forearm, diff deviation to thumb side, sensory loss at palm, can't hold thumb-forefinger circle
Median n
Kids, h/a, bitemporal hemianopsia, diabetes insipidus, incr ICP, growth retardation
Craniopharyngioma (usually at sella turcica)
Weakness during middle of arm abduction, sensory loss at outer shoulder
Axiallary n (teres major & deltoid)
I/L motor loss, proprioceptive and vibratory loss, C/L pain and temp loss
Brown-Sequard syndrome (hemisection of spinal cord)
Rapid progression memory loss, behavioral change; myoclonus, ataxia, akinetic mutism
Prion disease
Very rare tumor, presents before 30 y/o w focal neuro s/s (3rd ventricle, hypothal, temporal lobe)
Ganglion cell tumor
Hyperreflexia, EARLY incontinence, upper and lower motor neuron signs, B/L sensory and motor deficits, saddle anesthesia
Conus medullaris syndrome
Older adult, cognitive/behavioral problems, speech and motor problems; NO initial memory problems
Fronto-temporal dementia ( atrophy of frontal/temporal lobes on CT/MRI, buildup of tau protein deposits)
Hearing loss; Mm of mastication/facial sensory loss
Schwannoma (Benign, adheres to nerve, non-penetrative)
Flaccid paralysis x4, hx of alcoholism, inability to chew/swallow/speak, long term spasticity
Central pontine myelinolysis (rapid increase in Na)
Kids, sweating, HTN b/c present at adrenal glands; opsomyoclonus (dancing feet/eyes)
Neuroblastomas
Adults, slow onset of uncontrolled jerky movement, behavior/cognitive disturbance
Huntington's disease (auto dom, CAG repeats on chr 4, degen caudate nucleus)
Infant w abn head enlargment; child w incr DTR, spasticity, clonus; older kid w irritability, lethargy, poor appetite, vomiting, h/a
Hydrocephalus
Weak shoulder girdle, upper arm, incomplete sensory loss on dermatomes, waiter's tray position
Cervical plexopathy, Erb's palsy (C5-C7)
Distal arm weak/atrophy, sensory deficit at forearm and hand, flexor posturing
Cervical plexopathy, Klumpke's palsy (C8-T1)
Clouding of lens with slowly progressive image blur and increased near vision, NORMAL pupil response
Cataracts
Common site of cervical radiculopathy due to disk herniation
C5/6 then C6/7
Buildup of drusden in Bruch's membrane; slowly progressive vision loss
Macular degeneration
Common site of lumbar radiculopathy due to disk herniation
L5/S1 then L4/L5
Changes in optic cup and changes in intraocular pressure leading to loss of vision
Glaucoma
Progressive limb ataxia, impaired gait/equilibrium, IMPAIRED sensory fxn, dysarthria, nystagmus, head/neck tremor
Spinocerebellar ataxia
Increased vascularity of retina disrupts ability of light to penetrate retina; progressive loss of vision
Diabetic retinopathy
± head trauma, rapid change in mental status, h/a, star sign on CT, s/s of meningeal irritation
Subarachnoid hemorrhage (berry aneurysm, use CT to find)
Rare infection between dura and bone
Epidural abscess
Truncal ataxia w atrophy of cerebellar vermis
Ethanol toxicity
Acute focal neuro s/s, h/a, nausea, rapid progression, midline shift on imaging
Intraparenchymal hemorrhage (assoc w HTN, cocaine use, Charcot-Bouchard aneurysms)
Papilledema, h/a, n/v
Hydrocephalus (obstructive, non-obstructive, ex vacuo)
Change in consciousness, confusion, incr psychomotor activity; progresses to coma, abn reflexes, seizures
Hepatic encephalopathy (assoc w incr ammonia)
Aching/creepy feeling in calves/thighs relieved by movement
Restless leg syndrome
Recurring U/L face, head, neck, jaw pain, lasting 4-72h, photophobia, nausea, ± aura
Migraine h/a (due to small afferent fibers of CN 5)
Adults 40-50's, seizures, h/a, incr ICP, can see calcification at fronto-temporal region
Oligodendroma (highly infiltrative, better prognosis than astrocytomas)
Nystagmus, lateral gaze or rectus palsy, gait ataxia, confusion, learning/memory deficit, confabulation
Wernicke-Korsakoff syndrome
Hypomelanotic macules, sebaceous adenomas, shagreen patches at lumbar, retinal mulberry tumor, hamartomas, seizures, MR
Tuberous sclerosis (hamartin at chr 9, tuberin at chr 16 - both involved in Golgi app)
20-30's, EPISODIC sensory loss, optic neuritis, weakness, paresthesias; demyelination
Multiple sclerosis (plaques on imaging w/in white matter at angle of lat ventricles)
Visual hallucinations, parkinson-like tremor, fluctuating alertness, freq falls
Lewy Body dementia (neurofilaments surrounded by ubiquitin and a-synuclein, seen in cortex, amygdala, SN)
Afebrile, h/a, neck stiffness, incr ICP, incr lymphocytes and protein, normal glucose in CSF, mass effect on surrounding structure
Subdural empyema
Adults w h/a, no n/v, no photophobia, pain lasts 30m - 7d
Tension h/a
Dementia, gait disturbance, pseudobulbar signs (dysphagia, diff chewing, dysarthria)
Vascular dementia
Rapid onset periobital h/a, U/L pain, I/L lacrimation, congestion, partial Horner's
Cluster h/a
Brief, repetitive purposeless actions
Tourette's syndrome (overactive dopa pthwys, D2 to corpus striatum)
Head/neck/back pain, cape analgesia, flaccidity at level, spasticity below level, ± incontience
Syringomyelia (dx w MRI)
Facial nevus on U/L V1 dist'n, I/L glaucoma, seizures, some MR
Sturge-Weber syndrome
Infants w rapid onset fever to >39, gen tonic-clonic seizure for seconds-minutes
Febrile seizures
Diff walking, B/L sensory and cerebellar ataxia, early loss of 2pv, later loss pain/temp
Freidrich's ataxia (frataxin, auto rec GAA repeats on chr 9)
Trauma w rapid velocity changes; chg in consciousness, h/a, hemiparesis, aphasia, HTN, U/L pupil dilation & motor palsy
Subdural hematoma (crescent shape, don't cross midline, can cross suture lines)
Child/adolescent w fever, h/a, nuchal rigidity, photophobia, irritability
Meningitis (N. meningitidis, Strep pneumoniae)
LP with purulent fluid, increased ICP, + cultures, incr PMNs, incr protein, decr glucose
Bacterial meningitis
Hx falls, MVC, violence; h/a, syncope, n/v, diff concentrating, blurred vision
Traumatic brain injury
LP with nl pressure, nl glucose, incr lymphocytes, mod incr protein
Viral meningitis (most enteroviruses)
Hx previous viral illness, fever, malaise; s/s spinal cord transection
Myelitis
Saddle anesthesia, motor/sensory loss LE, sciatica, LATE incontinence, areflexia, lower motor neuron signs
Cauda equina syndrome
Child-young adult w h/a, n/v, trunk ataxia/spasticity, papilledema, nystagmus
Medulloblastoma (v. malignant, cerebellum, lg enhancing mass blocking 4th ventricle on imaging)
Discomfort at trapezius ridge, supraclavicular & infraclavicular fossa, pain/numb at C8-T1 dist'n
Thoracic outlet syndrome
Fever, h/a, photophobia, nuchal rigidity, confusion, behavior chg, altered consciousness, seizures
Encephalitis/menigoencephalitis
50-60's, more females, extracerebral, focal neuro deficits at brain, seizures, hemiparesis, gait disturbances
Meningioma (usually arachnoid,BENIGN, mass effects, incidental imaging finding, whorling w psammoma bodies)
Hepatitis/cirrhosis, dystonia, ataxia, tremor, autonomic dysfxn, memory loss, migraines, seizures, behav disturbance
Wilson's disease
70-90's, slow decline in memory and orientation, cortical atrophy on imaging
Alzheimer's disease (a-beta-amyloid plaques, neurofib tangles w tau protein, familial type on chr 21)
Kids, tumor in cerebellum, ataxia, incr ICP, visual deficit, CN deficit
Pilocytic astrocytoma
Tumor of 4th ventricle; < 3yo, vomiting, ataxia, h/a, lethargy, incr head circumf; older kids, ataxia, nystagmus, gaze palsy, hemiparesis
Ependymoma
4-6hz tremor, cog-wheel rigidity, bradykinesia, loss of facial expression
Parkinson's disease (degen of SN, nigrostriatal fibers of basal ganglia, atrophy of frontal lobes, can have lewy bodies)
Acute onset back pain w radiation to legs, LE weakness, incontinence, analgesia
Anterior spinal syndrome
Hx DM, numb/tingling/pain at night in toes and calves, progresses to fingers/hands, B/L symmetric; non-healing ulceration
Diabetic neuropathy (chronic axonal degeneration)
Focal neuro s/s of white matter tracts (IC, CC, ML, cerebellum), multiple hypodense non-enhancing lesions
Progressive multifocal leukoencephalopathy (pt immunocomp, JC virus infection)
Mass in abdomen near adrenals with calcification, elevated homovanillic acid and vanillylmandelic acid in urine
Neuroblastomas
Focal or diffuse neuro s/s, multiple ring enhancing lesions w protozoan abscesses
Toxoplasmosis (pt immunocomp)
Insidious slow loss of visual fields, painless, often increased intraocular pressure
Open angle glaucoma
Ring enhancing lesions on imaging, needle biopsy shows B cells
Primary brain lymphoma (pt immunocomp, tumors often w EBV)
Acute, painful red eye with progressive loss of visual fields from periphery to fovea
Closed angle glaucoma
Impaired attention, global confusional state, waxing and waning
Encephalopathy (aka delirium)
Diffuse bruising of eye
Subconjunctival hemorrhage
Highly visible veins/arteries in sclera
Conjunctival hyperemia
Deterioration of intellectual function with no disturbance of consciousness or perception
Dementia (general definition)
Redness extending from around iris
Ciliary flush
Young adult 20-30's, seizures, h/a, focal neuro s/s; vague hypodensity obscuring gray-white jct on CT
Fibrillary astrocytoma
White opacities of cornea caused by scar tissue
Corneal leukomata
Progression of fibrillary astrocytoma w edema, incr ICP and more severe deficits
Anaplastic astrocytoma
Hormone disturbances in adults
Pituitary adenoma
Procedure allows detection of irregularities in corneal epithelium
Flourescein staining
Sharp burning groin pain
Ilioinguinal n
Patchy sensory neuropathy w loss of touch sensation, skin ulcers, secondary infection
Leprosy (M. Leprae invades superficial nerves)
Weakness in abduction, rotation of hip
Gluteal n
Layered pus in anterior chamber of eye
Hypopeon
SOD-1, on chr 21
Amyotrophic Lateral Sclerosis (death of motor neurons at ventral horn, brainstem nuclei, bulbospinal and corticospinal tracts)
Layered blood in anterior chamber of eye
Hyphema
Lateral thigh pain with weakness; pt with heavy, tight belt
Lateral femoral cutaneous n
Merlin, on chr 22
Schwannoma
Most common source of decreased vision in US
Cataracts
Quad and psoas weakness; abnormal sensory at anterior thigh and medial calf
Femoral n
Monocular diplopia
Cataracts
Chr 20, PRP -> PRPSC , alpha chains to beta sheets which are undigestible
Prion disease
Chr 13, ATP7B
Wilson's disease
p53 mutations
Glioblastoma, Fibrillary astrocytoma
Cardiopathy, peripheral nerve weakness/sensory, anemia, encephalopathy; hemorrhage and necrosis at 3rd ventricle
Thiamine deficiency (B1)
Hx chemotherapy exposure, loss of 2pv, hearing loss, NO analgesia
Cisplatin neuropathy
CTG repeats
Myotonic dystrophy
Glial tumors w/in CNS, contrast-enhancing on imaging due to leaky vessels
Glioblastoma
Ataxia, motor spasticity, ± seizures
Cerebral palsy
Late childhood, diff running, ankle sprains, foot slap, high arches, hammer toes
Charcot-Marie-Tooth
Ragged red fibers in mitochondria, weakness/poor endurance, tachycardia
Mitochondrial myopathy
Adolescent w h/a, neck pain, incr urinary frequency, progressive ataxia & LE spasticity
Chiari type 1
ETOH use, infection or warfarin in first trimester can lead to
Dandy-Walker syndrome
Infant, hypotonia, atrophy, decr DTR, bulbar signs
SMA type 1 (auto recess w degen alpha motor neurons)
Infant w resp distress, stridor, apnea, facial weakness, ± myelomeningocele, SHORT occiput
Chiari type 2
Hamartin on Chr 9, Tuberin on Chr 16
Tuberous sclerosis
6-12 m/o, can't walk, weakness, NO bulbar involvement, ± scoliosis
SMA type 2 (auto recess w degen alpha motor neurons)
Incr ICP, ataxia, progr head enlargement, LARGE occiput
Dandy-Walker syndrome
>12 m/o, do walk, proximal weakness, slow progression
SMA type 3 (auto recess w degen alpha motor neurons)
17q and 1p
Charcot-Marie-Tooth
Previous injury, paresis, burning pain, altered skin temp/color, edema
Complex regional pain syndrome
Kids, h/a, fever, focal neuro s/s, can have incr ICP w lesion expansion
Brain abscess
Chr 4
Huntington's disease
CAG repeats
Huntington's disease
Elderly, sudden severe U/L episodic pain at lips, gums, cheek, chin
Trigemina neuralgia (CN 5 root compression by SCA)
Café au-lait spots, dermal lesions, glioma on optic n, pigmented nodules on iris (PERIPHERAL)
Neurofibromatosis type 1 - chr 17 neurofibromin (on RAS tumor-supr pathway)
GAA repeats
Friedrich's ataxia
B/L CN 8 schwannomas, multiple menigniomas, ependymomas, nodular schwann cell growths (CENTRAL)
Neurofibromatosis type 2 - chr 22 merlin (cytoskeleton)
Fatigue, flu-like s/s, h/a, n/v, aseptic meningitis, hx of outdoor exposure
Lyme disease
Oligoarticular arthritis or synovitis, neuritis incl facial palsy
Lyme disease
Unable to raise arm overhead, scapular winging
Long thoracic n (serratus anterior m)
Most common form of progressive motor neuron disease
Amyotrophic Lateral Sclerosis
Dermatomal itch, burning, pain, vesicular eruption
Varicella Zoster - Shingles
Most common inherited peripheral neuropathy
Charcot-Marie-Tooth
Scapular winging during arm abduction, C5-6 pain distribution
Dorsal scapular n (rhomboids & levator scap)
Rapidly progressing weakness from legs up, arthralgia, back pain, hyporeflexia
Guillan-Barre syndrome (axon demyelination, self-limited)
Most common cause of acute generalized weakness
Guillan-Barre syndrome
Weak initiation of arm abduction and external rotation
Suprascapular n ( supraspinatus & infraspinatus)
Most common adult muscular dystrophy
Myotonic muscular dystrophy
Kids 3-5 y/o, delayed motor devel w loss of strength, Gower's sign, limited ROM, calf pseudohypertrophy
Duchenne's MD (X-linked, dystrophin - connects contractile elements to ECM)
Diff deviation to pinky side, sensory deficit at 4th and 5th digits
Ulnar n
Most common childhood-onset muscular dystrophy
Duchenne's MD
Subacute or chronically evolving mononeuropathy multiplex, or symmetric polyneuropathy
Vasculitic neuropathy
Weak forearm flexion
Musculocutaneous n
Most common presentation of meningiomas
Seizures
Inability to pronate forearm, diff deviation to thumb side, sensory loss at palm, can't hold thumb-forefinger circle
Median n
Kids 5-15 y/o, SLOW progression of weakness, proximal LE weakness, calf pseudohypertrophy
Becker's MD (X-linked, dystrophin - connects contractile elements to ECM)
Most common chronic motor disability in children
Cerebral palsy
Weakness during middle of arm abduction, sensory loss at outer shoulder
Axiallary n (teres major & deltoid)
Increased mitochondrial iron levels, defect on chromosome 9
Freidrich's ataxia (frataxin, auto rec GAA repeats)
Most common sites which metastasize to brain
Lung, Breast, Skin, Kidney
Early closure of sagittal suture
Schizencephaly
Rapid progression memory loss, behavioral change; myoclonus, ataxia, akinetic mutism
Prion disease
Least likely sites to metastasize to brain
Ovary, Testicles, Prostate, Pancreas
Hyperreflexia, EARLY incontinence, upper and lower motor neuron signs, B/L sensory and motor deficits, saddle anesthesia
Conus medullaris syndrome
Early closure of metopic suture
Trigonocephaly
Most common neuro presentation in adults, especially women
Multiple sclerosis
Hearing loss; Mm of mastication/facial sensory loss
Schwannoma (Benign, adheres to nerve, non-penetrative)
Early closure of coronal suture
Frontal plagiocephaly
Most common familial neurodegenerative disease
Parkinson's disease
Kids, sweating, HTN b/c present at adrenal glands; opsomyoclonus (dancing feet/eyes)
Neuroblastomas
Early closure of lambdoid suture
Occipital plagiocephaly
Infant w abn head enlargment; child w incr DTR, spasticity, clonus; older kid w irritability, lethargy, poor appetite, vomiting, h/a
Hydrocephalus
Most common form of demential in Asia
Vascular dementia
Most common site of primary thrombosis
Middle cerebral artery
Deformity of head based on positioning/resting/weight bearing
Positional plagiocephaly
Clouding of lens with slowly progressive image blur and increased near vision, NORMAL pupil response
Cataracts
Most common seizure disorder of children
Febrile seizures
Buildup of drusden in Bruch's membrane; slowly progressive vision loss
Macular degeneration
Proximal LE weakness, ptosis, diplopia, ABSENT DTRs, dry mouth
Eaton-Lambert syndrome (Ca channel defect at presynaptic neuron)
Changes in optic cup and changes in intraocular pressure leading to loss of vision
Glaucoma
Most frequent brain tumor in infants
Pilocytic astrocytoma
Fatigueable weakness starting at face, ocular, cranial muscles, B/L or U/L, NORMAL DTRs, NORMAL sensory function
Myasthenia Gravis (Ach receptor shortage due to antibody attack)
Increased vascularity of retina disrupts ability of light to penetrate retina; progressive loss of vision
Diabetic retinopathy
Most common adult headache
Tension h/a
Adolescent/adult onset of exercrise intolerance, especially brief exercise of high intensity; rhabdomyolysis and dark urine
McArdle's disease (defect in glycogen storage in muscle)
Rare infection between dura and bone
Epidural abscess
Most common childhood headache
Migraine h/a
Late childhood gait abnormalities, sustained muscle contractions, weakness hands then face, elongated face w open mouth
Myotonic dystrophy (DMPK for cell communication, auto dominant CTG repeat at chr 19)
Truncal ataxia w atrophy of cerebellar vermis
Ethanol toxicity
Type of varicella zoster; affects pain and vesicles of external auditory canal, facial palsy, loss of taste
Ramsey-Hunt syndrome
Change in consciousness, confusion, incr psychomotor activity; progresses to coma, abn reflexes, seizures
Hepatic encephalopathy (assoc w incr ammonia)
Hx trauma w brief LOC and "lucid interval", increasing h/a, n/v, drowsiness, focal signs progressing to B/L and posturing
Epidural hematoma (lens shape on CT, rapidly expand, injury to meningeal a, can cross midline, not cross suture lines)
Translocation of 1p and 19q
Oligodendroma
Progressive ataxia, numb/tingling LE, weak/spastic/incr DTR, diffuse and symmetric, dementia, pernicious anemia
Subacute combined degeneration (B12 deficiency, degen of lat and posterior spinal cord)
Recurring U/L face, head, neck, jaw pain, lasting 4-72h, photophobia, nausea, ± aura
Migraine h/a (due to small afferent fibers of CN 5)
Increased pain and suffering out of proportion to injury, refractory to treatment
Chronic pain
Sympathetic ganglion tumors
Neuroblastomas
Nystagmus, lateral gaze or rectus palsy, gait ataxia, confusion, learning/memory deficit, confabulation
Wernicke-Korsakoff syndrome
U/L cramping hand muscles progress to B/L, can have upper and lower motor neuron signs with bulbar involvement; NO sensory defects
Amyotrophic Lateral Sclerosis (death of motor neurons at ventral horn, brainstem nuclei, bulbospinal and corticospinal tracts)
Lherette's sign - electric shock pain down spinal cord with neck flexion
Cisplatin neuropathy
20-30's, EPISODIC sensory loss, optic neuritis, weakness, paresthesias; demyelination
Multiple sclerosis (plaques on imaging w/in white matter at angle of lat ventricles)
Confusion, seizures, fever and U/L edema on a scan
Herpes HSV-1
Most commonly a sequela of sinusitis
Subdural empyema
Afebrile, h/a, neck stiffness, incr ICP, incr lymphocytes and protein, normal glucose in CSF, mass effect on surrounding structure
Subdural empyema
Most likely agent for brain abscess following brain surgery
Staph aureus
Adults w h/a, no n/v, no photophobia, pain lasts 30m - 7d
Tension h/a
Mature appearing neurons w/in tumor on biopsy
Gliocytoma (ganglion cell tumor)
Rapid onset periobital h/a, U/L pain, I/L lacrimation, congestion, partial Horner's
Cluster h/a
Buildup of myocilin causes increased intraocular pressure
Open angle glaucoma
Facial nevus on U/L V1 dist'n, I/L glaucoma, seizures, some MR
Sturge-Weber syndrome
Bupthalmos (diffuse enlargment of eye in infants/children) or megalocornea is associated with
Glaucoma
Infants w rapid onset fever to >39, gen tonic-clonic seizure for seconds-minutes
Febrile seizures
Pulsatile tinnitus
Very rare, usually vascular origin
Most common disease of vestibular system
Vertigo
Trauma w rapid velocity changes; chg in consciousness, h/a, hemiparesis, aphasia, HTN, U/L pupil dilation & motor palsy
Subdural hematoma (crescent shape, don't cross midline, can cross suture lines)
Hx falls, MVC, violence; h/a, syncope, n/v, diff concentrating, blurred vision
Traumatic brain injury
Meckle's cave contains ganglion for trigeminal nerve due to
Meningioma
Hx previous viral illness, fever, malaise; s/s spinal cord transection
Myelitis
Saddle anesthesia, motor/sensory loss LE, sciatica, LATE incontinence, areflexia, lower motor neuron signs
Cauda equina syndrome
Discomfort at trapezius ridge, supraclavicular & infraclavicular fossa, pain/numb at C8-T1 dist'n
Thoracic outlet syndrome
Hepatitis/cirrhosis, dystonia, ataxia, tremor, autonomic dysfxn, memory loss, migraines, seizures, behav disturbance
Wilson's disease
Kids, tumor in cerebellum, ataxia, incr ICP, visual deficit, CN deficit
Pilocytic astrocytoma
Tumor of 4th ventricle; < 3yo, vomiting, ataxia, h/a, lethargy, incr head circumf; older kids, ataxia, nystagmus, gaze palsy, hemiparesis
Ependymoma
Acute onset back pain w radiation to legs, LE weakness, incontinence, analgesia
Anterior spinal syndrome
Mass in abdomen near adrenals with calcification, elevated homovanillic acid and vanillylmandelic acid in urine
Neuroblastomas