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