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176 Cards in this Set

  • Front
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Unilateral, throbbing, visual and autonomic disturbances, nausea.
Basilar migraine may present with ataxia, vertigo, dysarthria.
Typical symptoms in young adult, positive family history often, 75%
of cases are women. Increased incidence of motion sickness and in-
fantile colic.
• Classic migraine—unilateral throbbing headache with aura.
• Common migraine—subtle onset, no aura, represents 80% of cases
Serotonergic neurons in brain stem raphe involved. Vasomotor
changes. Spreading depression of Leao (neuronal depression). Cor-
tical oligemia, extracranial vasodilation.
 Treatment Steps
1. Pharmacotherapy—acute headache: ergot alkaloids, serotonin
(5-HT) agonists, prochlorperazine, metoclopramide.
2. Preventive treatment: β-blockers, sodium valproate, topiramate,
gabapentin, lamotrigine, methysergide (potential for retroperi-
toneal fibrosis with long-term use), calcium channel blockers, an-
tidepressants, nonsteroidal anti-inflammatory drugs (NSAIDs),
3. Avoid alcohol, tyramine (cheese), chocolate, citrus, onions, and
Severe pain in short episodes without aura, for weeks to months,
then remits, ipsilateral lacrimation, nasal congestion, conjunctival
injection, nasal congestion, dilated superficial temporal artery.
Typical symptoms, men more often (95%), worse with alcohol and
Cluster Headache
Vascular headache, also known as histamine cephalalgia, Horton’s
headache, migrainous neuralgia.
 Treatment Steps
1. Pharmacotherapy—acute headache: ergot alkaloids, serotonin
(5-HT) agonists, prochlorperazine, metoclopramide.
2. Preventive treatment: β-blockers, sodium valproate, topiramate,
gabapentin, lamotrigine, methysergide (potential for retroperi-
toneal fibrosis with long-term use), calcium channel blockers, an-
tidepressants, nonsteroidal anti-inflammatory drugs (NSAIDs),
3. Avoid alcohol, tyramine (cheese), chocolate, citrus, onions, and
2. Also prednisone, oxygen, lithium.
Temporal headache, focal tenderness superficial temporal/occipital
arteries, vision loss, malaise. Can be associated with polymyalgia
Clinical suspicion, elevated erythrocyte sedimentation rate (ESR),
biopsy of temporal artery.
over age 50 (but often
much older) who
presents with unilateral
headache in temporal
region, or eye pain
Temporal Arteritis (Giant Cell)
Inflammatory systemic illness in elderly. Medical emergency.
Mononuclear cell and giant-cell infiltrates in cranial arteries. Skip le-
 Treatment Steps
Treatment with steroids
must be started
immediately to prevent
loss of vision.
• Surgical biopsy is
definitive for diagnosis,
and although starting
steroids empirically may
alter biopsy results, it is
often done to prevent
Those of increased intracranial pressure without tumor, headache,
visual disturbances, nausea, vomiting, dizziness.
Clinical seting (headache, papilledema, no focal neurologic find-
ings, obese female). Magnetic resonance imaging (MRI) more sensi-
tive to look for hydrocephalus, rule out tumor or dural sinus vein
thrombosis. Lumbar puncture shows elevated opening pressure.
Benign Intracranial Hypertension
(Pseudotumor Cerebri)
Decreased cerebrospinal fluid outflow conductance.
 Treatment Steps
1. Acetazolamide, diuretics.
2. Prednisone.
3. Serial lumbar punctures.
4. Optic nerve sheath incision, lumboperitoneal shunts.
Brief episodes of pain in fifth cranial nerve distribution, third and
second divisions
Onset after 40, more often in women, may coexist with multiple scle-
rosis (MS); history is diagnostic, may have facial trigger points but
no sensory impairment.
Trigeminal Neuralgia (Tic Douloureux)
Degenerative changes gasserian ganglion. Compression of trigemi-
nal nerve by vascular loops causing demyelination. MS; demyelina-
tion of root entry zone.
 Treatment Steps
1. Phenytoin, carbamazepine, baclofen, gabapentin, amitriptyline,
2. Alcohol nerve block.
3. Microvascular decompression.
4. Percutaneous radiofrequency nerve thermocoagulation.
Impending loss of consciousness secondary to inadequate cerebral
Syncope and Presyncope
Etiology vascular or cardiac, not neurologic.
May be due to hyperventilation, orthostatic hypotension, vasovagal, micturition
Disorder of balance system, dizziness when standing and walking,
multiple possible central nervous system (CNS) causes. Chronic and
common in elderly.
Sensation of movement, due to abnormality of the peripheral or
central vestibular system pathways. Nystagmus may be present. Pe-
ripheral nystagmus is unidirectional and suppressed by fixation.
Central nystagmus may be multidirectional and is never suppressed
by fixation.
disorders resulting in vertigo
include vestibular neuronitis, labyrinthitis, posttraumatic brain stem
transient ischemic attack (TIA), MS, posterior fossa tumor, and basi-
lar artery migraine
hearing loss, tinnitus, and vertigo.
Ménière’s disease
vertigo aggravated by change in head position, sneezing, noises
Perilymph fistula
oval window tear resulting
premonitory phase followed by immediate loss
of consciousness, tonic, clonic, and postictal (confusion) phases.
Electroencephalogram (EEG) hallmark is immediate bihemispheric
Tonic and/or clonic
Generalized Epileptic Seizures
brief loss of consciousness (5–10 seconds), sud-
den blank stare, abrupt cessation of activity; clonic movements, au-
tomatisms such as lip smacking. EEG three per second spike-and-
wave pattern.
Absence seizures
Generalized Epileptic Seizures
Drug of choice: ethosuximide.
sudden generalized or focal muscle jerk, EEG discharge
concurrent with jerk
Generalized Epileptic Seizures
1 to 2 sec. Drop attacks limited or generalized, .
Atonic seizures
Generalized Epileptic Seizures
secondary to diffuse brain disease
infantile spasms (sudden extensor/flexor trunk movements) psychomotor retardation and EEG hyparrhythmia (disorganized high-voltage slow waves, spikes, and sharp waves)
West syndrome
Generalized Epileptic Seizures
pre- & postnatal causes including genetic disorders, injuries, infections,
metabolic disorders.
Adrenocorticotropic hormone (ACTH), valproic acid or clonazepam
less abrupt onset, longer, loss of postural tone, as-
sociated with other seizure types; EEG background abnormal, ictal
0.5- to 2.5-Hz spike-and-wave discharges.
Atypical absence
Generalized Epileptic Seizures
no impairment of consciousness.
start in one motor cortical area—may spread with progressive jerking (jacksonian seizures)
Simple partial sezures, Motor
no impairment of consciousness.
tingling, numbness, sensation of movement or absence
of body part.
Simple partial sezures, Sensory, Parietal
no impairment of consciousness.
flashes of light, hemianopsia, scotomata. Visual associa-
tion cortex, complex images—micropsia, macropsia, distortions.
Simple partial sezures, Sensory, Occipital
no impairment of consciousness.
auditory, olfactory hallucinations, emotional or psy-
chic phenomena, memory or cognitive distortions (déjà vu),
time distortions, detachment, affective (fear, depression)
Simple partial sezures, Sensory, Temporal
impaired level of awareness and con-
sciousness, amnesia for event, automatisms may occur.
Complex partial seizures
Focal Epilepsy
a. Benign childhood epilepsy with centrotemporal spikes; stops in
adolescence—somatosensory, tonic/tonic–clonic activity involv-
ing face to arm, generalized with nocturnal seizures.
b. Childhood epilepsy with occipital paroxysms (spikes)—visual
seizures while awake, motor seizures during sleep.
Partial epileptic syndromes
Focal Epilepsy
weakness in a part of the body after a seizure
Todd’s postictal paralysis
reflects a partial seizure
having taken place
Continued or recurrent seizures of any type with unconsciousness
for 20 or more minutes
Status Epilepticus
Treat as medical emergency, intravenous
(IV) lorazepam (binds γ-aminobutyric acid [GABA]A receptor) followed by IV phenytoin
quadriplegia and lower cranial nerve paralysis, but conscious with higher mental activity intact.
Locked-in syndrome
Patient cannot be aroused, total unresponsivenes
may demonstrate response to noxious stimuli
Diffuse cerebral hemisphere dysfunction and/or involvement of the
brain stem ascending reticular activating system.
• Trauma. History of injury. Epidural hematoma: lucid interval. Sub-
dural: depressed consciousness, then focal findings.
• Vascular disease. Sudden onset, nuchal rigidity, bloody cerebrospinal fluid (CSF).
• Neoplasm. Focal signs, papilledema.
• Infection. Cerebrospinal fluid increased protein normal or low CSF
• Metabolic. Abnormal labs.
 Treatment Steps
1. Establish airway, and IV line.
2. Determine cardiovascular status, history, and physical.
3. Obtain full lab, skull x-ray, computed tomography (CT), and/or
4. May need lumbar puncture.
5. Give thiamine, dextrose, and possibly naloxone.
6. If cerebral edema or increased intracranial pressure, restrict fluids,
hyperventilate, mannitol, and steroids.
patient in coma, but appears awake
Akinetic mutism (coma vigile)
coma (lesion localization)
hyperpnea alternating with apnea
Cheyne–Stokes respiration
bilateral cerebral hemisphere damage
coma (lesion localization)
long inspiration then pause
ataxic (chaotic) breathing
Apneustic respiration or ataxic (chaotic) breathing
lower pontine lesions
coma (lesion localization)
extension/adduction of arms
and legs
Decerebrate posture. Midbrain lesion
coma (lesion localization)
flexion arms, wrists, and fingers
Decorticate posture. Lower diencephalon lesion
sudden onset of a focal neurologic deficit due to cerebrovas-
cular disease, lasting more than 24 hours.
To identify cause of stroke, the following tests are usually completed:
• Carotid ultrasound.
• Echocardiogram (transesophageal echocardiogram done in
certain settings).
• Fasting lipid panel.
• Hypercoagulability workup may be indicated in certain
cases, particularly young individuals with no other source of stroke
focal, abrupt in onset, usually lasts less than 1 hour; resolve
within 24 hours
Greatest risk for stroke in days to weeks.
stroke or TIA (origin)
abrupt onset while active
Patients rarely lose consciousness
Cerebral Embolism
most common
source of embolism is the heart; less common peripheral arterial
stroke or TIA (origin)
abrupt onset while active
may lose consciousness
Subarachnoid Hemorrhage
aneurysm at circle of Willi
stroke or TIA (origin)
abrupt onset while active
may lose consciousness; CT positive for hematoma
Intraparenchymatous Hemorrhage
stroke or TIA (origin)
10% preceded by TIA, often during sleep; rarely lose
May have normal CT and lumbar puncture early;
rarely have headache
Ischemic Stroke (artery?)
contralateral hemiplegia/paresis. Domi-
nant hemisphere—nonfluent or Broca’s aphasia from upper-division
occlusion.Wernicke’s (fluent) aphasia from lower-division lesions.
Middle cerebral artery
Ischemic Stroke (artery?)
contralateral leg paralysis, abulia, aki-
netic mutism, sphincter incontinence
Anterior cerebral artery
Ischemic Stroke (artery?)
contralateral weakness or sensory loss, speech
disturbance, ipsilateral visual loss
Carotid artery
Ischemic Stroke (artery?)
contralateral homonymous hemianopia, cortical blindness, prosopagnosia, alexia without agraphia.
Posterior cerebral
Ischemic Stroke (artery?)
ataxia, hemiplegia, horizontal gaze, palsy, nystagmus vertigo, deafness, dizziness
Ischemic Stroke (artery?)
ataxia, dizziness, nausea, vomiting
Ischemic Stroke (artery?)
pure motor or sensory strokes, clumsy hand syndrome may be seen
Lacunar infarct—due to lipohyalinosis
Ischemic Stroke
 Risk Factors
• Nonmodifiable—race, age, gender, family history prior TIA or
cerebrovascular accident (CVA).
• Modifiable—hypertension, diabetes mellitus, smoking, alcohol
abuse, oral contraceptives, cardiac disease, prior stroke, lipoprotein
abnormalities, elevated homocysteine and C-reactive protein, coag-
 Treatment Steps
1. Prevention—treat modifiable risk factors (above).
2. TIA—antiplatelet aggregating drugs (aspirin, ticlopidine, clopi-
3. Acute ischemic infarction—protect airway, prevent aspiration,
avoid aggressive blood pressure (BP) control. Treat BP slowly if
over 170/100 mm Hg. Treat hyperglycemia, reduce fever. Throm-
bolysis in infarcts less than 3 hours old with tissue plasminogen
activator. Cerebral edema peaks in 2 to 7 days; treat with modest
fluid restriction, intubation and hyperventilation, mannitol.
4. Elective carotid endarterectomy if carotid stenosis present.
headache, vomiting, decreased
level of consciousness
Stroke (cause)
Hypertensive intracerebral hemorrhage
Hypertensive intracerebral hemorrhage (location?)
Unusual eye signs
thalamic hemorrhage
Hypertensive intracerebral hemorrhage (location?)
point reactive pupils, coma, quadriplegia, ophthalmoplegia, decerebrate posturing
Pontine hemorrhage
Hypertensive intracerebral hemorrhage (location?)
vertigo,headache, vomiting, and ataxia.
Cerebellar bleed
Hypertensive intracerebral hemorrhage (location?)
Ventricular extension
associated with poor prognosis.
Sudden severe headache, meningeal irrita-
tion; exam may be normal
Subarachnoid hemorrhage—caused by saccular aneurysm or vascular malformation
Hemorrhagic Stroke (work up/treatment?)
Other causes of bleeding include arteriovenous malformation, tu-
mor, anticoagulant therapy, cocaine abuse, cerebral amyloid an-
giopathy, angiitis
Initial test of choice—CT scan. Do lumbar puncture only if CT not available, and check for papilledema before doing lumbar puncture.
 Treatment Steps
1. Control BP.
2. Treat seizures.
3. Control raised intracranial pressure (ICP).
4. Surgery in selected cases—ventriculostomy to decrease ICP and
remove blood, hemorrhage removal in some instances (cerebellum, putamen, lobar).
Optic neuritis, vertigo, paresthesias, sensory loss, pain, incoordination,
bladder dysfunction, nystagmus, weakness in 50%, trigeminal neural-
gia, diplopia, internuclear ophthalmoplegia, characteristically bilateral.
Multiple Sclerosis
Multiple areas of neurologic deficits, peak age 20 to 24. Increased in-
cidence in women and north temperate latitudes, etiology unknown,
possibly autoimmune. Fewer exacerbations during pregnancy
• Signs and symptoms
typical of the disease are
needed and must be
present at two different
points in time.
• Testing will help confirm
the diagnosis.
• Demyelinating plaques
seen on MRI of
brain/spinal cord.
• CSF often reveals
oligoclonal bands.
• Increased latency in
visual evoked response
(VER), brain stem
auditory evoked
response (BAER), or
somatosensory evoked
potential (SSEP)
 Treatment Steps
1. Acute exacerbations: Intravenous or oral steroids.
2. Prophylaxis: Interferon-β (Avonex, Betaseron, Rebif), interferon-
α (Intron A), or glatiramer acetate (Copaxone).
3. Symptomatic treatment: Spasticity—Lioresal, Tizanidine, Dantrium;
bladder—oxybutinin, hyoscyamine, antiseptics (vitamin C, meth-
enamine); pain—carbamazepine, gabapentin, amitriptyline, lam-
Papillitis, swelling of the optic nerve head may occur. May cause acute visual loss
Decreased visual acuity and color vision, scotomata, ocular pain. Ab-
normal VER, visual fields, and contrast sensitivity.
Optic Neuritis
Inflammation of the optic nerve, often from optic nerve demyelination. Episode of optic neuritis may precede MS.
MRI may demonstrate T2-weighted and gadolinium-enhancing lesions of optic nerve.
Brain or spinal cord MRI abnormalities—greater risk of MS with two
or more
 Treatment Steps
Intravenous methylprednisolone (Solu-Medrol). Interferon-β prohylaxis with 2 or more MRI lesions.
Headache, stiff neck, confusion, seizures, fever, coma. Focal and
multifocal signs. Mortality 10–30%.
postinfectious and postvaccinal
Acute Disseminated Encephalomyelitis
Monophasic, mostly postinfectious and postvaccinal
 Treatment Steps
Progressive ascending weakness, areflexia
Frequently preceded by upper respiratory or gastroin-
testinal (GI) infection (Campylobacter jejuni), surgery, immunization.
Linked to Epstein–Barr virus (EBV), cytomegalovirus (CMV), human immunodeficiency virus (HIV).
High CSF protein, with few cells, short duration of progression;
nerve conduction studies. With HIV infection, CSF pleocytosis is
Guillain–Barré Syndrome—A Peripheral
Acute inflammatory polyradiculoneuropathy in young to middle-
aged adults.
Endoneurial perivascular mononuclear cell infiltration; multifocal root and nerve demyelination
 Treatment Steps
Spontaneous recovery may occur, plasmapheresis, or intravenous im-
Headache, fever, stiff neck. Minimal neurologic signs in viral menin-
gitis, which is a benign self-limited disorder and also termed aseptic
meningitis. Positive Kernig’s and Brudzinski’s signs.
Acute Meningitis
Gram stain and culture of CSF. CSF protein over 50, viral; in bacte-
rial or fungal up to 400. Hypoglycorrhachia (CSF glucose less than
40% of serum level) suggests bacterial cause. Tuberculous (charac-
teristically lymphocytic meningitis) active pulmonary disease in one
third, positive purified protein derivative (PPD) in 50%
1. Neonatal—group B streptococcus, Escherichia coli.
2. Early childhood—Haemophilus influenzae, Streptococcus pneumoniae,
and Neisseria meningitidis.
3. Young adults—Neisseria meningitidis (petechial or ecchymotic rash
often), S. pneumoniae, H. influenzae.
4. Nosocomial—Gram-negative bacteria and Staphylococcus aureus.
5. Immunosuppressed—Listeria monocytogenes, S. pneumoniae, H. in-
fluenzae, Nocardia, Mycobacterium tuberculosis, Cryptococcus neofor-
6. HIV patients—acute aseptic meningitis.
7. Viral meningitis—most common agent is mumps; enterovirus is
most common viral group.
 Treatment Steps
1. Toxoplasma—pyrimethamine plus sulfadiazine.
2. Brucella—tetracycline and aminoglycoside. Chronic neurobrucel-
losis––rifampin, trimethoprim–sulfamethoxazole, doxycycline.
3. Neonatal—ampicillin and gentamicin.
4. Adults—ceftriaxone or ampicillin.
5. Tuberculous—isoniazid, ethambutol, rifampin, pyrazinamide.
6. Fungal—amphotericin B.
• Newer studies have
dexamethasone may be
useful in acute bacterial
meningitis if given before
or with first dose of
• Prophylaxis (rifampin or
ciprofloxacin) is given to
close contacts of
patients with meningitis
due to N. meningitidis,
rifampin, or ciprofloxacin
Tabes dorsalis, general paresis, gumma, optic atrophy, cerebrovascu-
lar disease from invasion of leptomeninges with Treponema pallidum.
Neurosyphilis most often is asymptomatic.
 Treatment Steps
High-dose parenteral penicillin
hypotension, fever, headache, chills, and tachycardia in first 24 hours of treatment of neurosyphilis
Jarisch–Herxheimer reaction
release of treponemal products; not a penicillin
Infection spread from paranasal sinuses and middle ear
marked peripheral leukocytosis.
Empyema (Subdural)
most often
Focal signs and acute febrile illness, seizures and coma, or depressed state of consciousness. Headache, fever, and nuchal rigidity.
Aseptic CSF, lymphocytic CSF with normal glucose
Viral Encephalitis
Mortality of 10%
Caused by mumps, herpes simplex type 1, lymphocytic choriomenin-
gitis, arboviruses, EBV. Mouse and hamster exposure linked to lymphocytic choriomeningitis
 Treatment Steps
Treat edema and seizures
respiratory spasms, dysphagia–hydrophobia
Rabies—brain stem encephalitis, incubation 30 to 60 days or more fatal in acute stage in
an acute febrile illness w/ evidence of lower motor
neuron paralysis
Polio—etiology: enteroviruses that damage anterior horn cells of spinal cord
most common opportunistic
CNS pathogen in acquired immune deficiency syndrome (AIDS)
Toxoplasmosis—intracellular parasite
Ataxia and myoclonus, dementia
Creutzfeldt–Jakob, kuru
Elevated gamma globulin and measles antibodies in CSF
Subacute sclerosing panencephalitis
Due to SV40-PML
Progressive multifocal leukoencephalopathy (PML)
temporal lobe localization
CNS infection
Herpes simplex encephalitis
treat with acyclovir
progressive muscle weakness
and atrophy
diagnosis by family history, weakness, muscle biopsy,
probable death by age 20.
Elevated creatine kinase (CK).
due to mutation on X chromosome (dystrophin gene;
Xp21 locus)
autosomal recessive and dominant forms
thinning face muscles, electromyogram (EMG) shows a
decremental pattern, and irregular after potentials. Autosomal domi-
nant (chromosome 19q. Expanded CTG repeats in myotonin pro-
tein kinase
Treat with phenytoin sodium (Dilantin).
autosomal dominant. No carriers
Weak with activity, fatigue, ocular symptoms; facial muscles, voice,
limb muscles, and respiration can be affected.
Tensilon test, electromyogram—repetitive nerve stimulation, posi-
tive antibodies to acetylcholine receptor.
Myasthenia Gravis
Autoantibodies against acetylcholine receptor. Associated with
thymic hyperplasia and thymoma. Women more than men
 Treatment Steps
1. Cholinesterase inhibitors.
2. Steroids.
3. Plasmapheresis.
4. Thymectomy.
Thymectomy may offer a
cure to patients with
myasthenia gravis (MG).
Thymectomy is offered to
all patients with a thymoma
and patients aged 10–55
without a thymoma but
with generalized MG
5. Immunosuppressants, IV immunoglobulin
Limb weakness without cranial muscle weakness and absence of
deep tendon reflexes. Found with small cell lung cancer or as autoimmune disease.
Response to repetitive stimulation (increasing action potential)
Eaton–Lambert Syndrome
Facilitating neuromuscular transmission disorder due to autoanti-
bodies against presynaptic neuromuscular voltage-gated calcium
 Treatment Steps
Guanidine. Calcium channel antagonists are contraindicated.
Begin 12–36 hours after ingestion of exotoxin in contaminated
food. Blurred vision, dilated fixed pupil, flaccid quadriplegia, dysphagia, dysarthria, respiratory paralysis, dry mouth.
Toxin of Clostridium botulinum blocks acetylcholine release.
Isolate toxin from stool, stomach, or food. Spores also found in
honey. EMG—decreased compound muscle action potentials; post-
tetanic facilitation
 Treatment Steps
1. Cathartics.
2. Trivalent antitoxin (A, B, E).
3. Quinidine.
4. Supportive therapy.
predominantly distal weakness, cardiac
conduction problems, cataracts, testicular atrophy, endocrine dys-
function, increased sensitivity to medications which depress respiratory drive, ptosis, temporalis and masseter muscle wasting.
Myotonic dystrophy
Impaired muscle relaxation
Myotonia congenita
treat with phenytoin
eosinophilia, weakness, myalgia
undercooked pork most
common source
Nematode Trichinella spiralis infection,
 Treatment Steps
Thiabendazole, mebendazole.
Muscle spasms, trismus (lockjaw), facial muscle spasm (risus sardon-
icus), opisthotonos, autonomic dysfunction. Clinical diagnosis
Lockjaw, intense motor neuron activity.
Caused by neurotoxin (tetanospasmin) from Clostridium tetani, a
gram-positive coccus, which inhibits spinal inhibitory interneurons.
 Treatment Steps
1. Cleaning and debridement of infected site.
2. Antibiotics.
3. Antitoxin (human hyperimmune globulin).
4. Skeletal muscle relaxants (diazepam).
Idiopathic, acute, peripheral facial weakness; may have ipsilateral
hyperacusis and decreased taste.
Inexcitable facial nerve, denervation of facial muscles after 2–3
Bell’s Palsy
 Treatment Steps
Supportive treatment Artificial tears to prevent corneal drying. Of-
ten self-limited. If patients present early, steroids and/or antiviral medications may be helpful.
middle-age rapid progression
of weakness. Combination of upper (spasticity, hyperreflexia, emo-
tional lability) and lower (atrophy, weakness, cramps, fasciculations)
neuron involvement. Bulbar and respiratory weakness in 50%
Amyotrophic lateral sclerosis (ALS)
Familial ALS has mutation for
superoxide dysmutase gene
Treated with riluzole
floppy infant, delayed milestones, progressive atrophy, respiratory
and swallowing problems
Type 1 proximal spinal muscular atrophy (Werdnig–Hoffmann)
Autosomal recessive, deletions in neu-
ronal apoptosis inhibitory gene in two-thirds.
onset age 20–40, muscle cramps, gynecomastia, dysphagia, dysarthria
Bulbospinal muscular atrophy (Kennedy’s disease)
X-linked recessive, increased CAG repeats in androgen receptor gene
Progressive emotional or intellectual decline associated with chorea,
abnormalities in gait, ocular motor function, and dexterity. Onset in fourth or fifth decades in most. Patients live an average of 15 years after diagnosis.
Huntington’s Disease
Chorea, personality change, psychiatric syndromes, progressive de-
mentia. Autosomal dominant with expanded CAG repeat sequence in huntingtin gene.
Exam, family history.
Caudate nucleus and cerebral cortex atrophy, neuronal loss and
gliosis, and decreased GABA and acetylcholine have been noted along with spared somatostatin–neuropeptide Y neurons.
 Treatment Steps
No cure but dopaminergic antagonists: presynaptic—tetrabenazine,
reserpine; postsynaptic—haloperidol (Haldol).
Neurologic—tremor, incoordination, ataxia, akinesia, dysarthria,
dysphagia, dystonia.
Hepatic—hepatitis, which may be acute or chronic; cirrhosis.
Ocular—Kayser–Fleischer ring in Descemet’s membrane of cornea
noted (rusty brown ring at limbus).
Psychiatric—variable presentation.
High serum copper and high urine copper. Slit lamp exam, low
serum ceruloplasmin, and elevated 24-hour urine copper; liver
biopsy and copper quantitation are also helpful. Abnormal liver
function tests. Aminoaciduria. MRI—cerebral atrophy, putaminal,
thalamic, and brain stem hypodensities. Pathology––excess copper
deposits in liver and brain.
Wilson’s Disease (Hepatolenticular Degeneration)
Chromosome 13 autosomal recessive disorder of copper metabolism
(mutations in copper-transporting P-type ATPase), characterized by
deficient ceruloplasmin, elevated urinary copper excretion. Presents
in adolescence or early adulthood
 Treatment Steps
D-penicillamine. Adverse effects of therapy include hypersensitivity,
fever, nephrotic syndrome, myasthenia gravis, Goodpasture syn-
drome, bone marrow suppression (agranulocytosis and thrombocy-
topenia), and collagen vascular disorders.
Characterized by resting tremor (pill-rolling—5–7 Hz), cogwheel
rigidity, bradykinesia, impaired postural reflexes, masked facies, flexed posture, hypophonia.
Clinical exam. Reduced 6-[18F]-fluorolevodopa in striata with
positron-emission tomography (PET)
Parkinson’s Disease
An idiopathic extrapyramidal movement disorder affecting the el-
derly. Reduced activity complex I mitochondrial electron transport
chain. Mutation in α-synuclein gene in familial Parkinson’s disease
Depigmentation, neuronal loss and gliosis in substantia nigra and
pigmented nuclei. Cytoplasmic inclusion (Lewy) bodies. Results in
reduced striatal dopamine. Associated decreased activity complex I mitochondrial electron transport chain.
 Treatment Steps
1. Levodopa/carbidopa (Sinemet), toxicity with levodopa: dyskine-
sias, hallucinations, confusion.
2. Anticholinergics, amantadine.
3. Dopamine agonists (bromocriptine, pergolide, pramipexole,
ropinirole) particularly late.
4. Catechol-O-methyltransferase (COMT) inhibitors prolong
L-dopa availability.
5. Pallidotomy and deep brain stimulation for end-stage disease
methylphenyltetrahydropyridine (MPTP);
neuroleptics block striatal dopamine receptor sites
Iatrogenic Dyskinesias
Drug-induced parkinsonism
linguofasciobuccal, choreiform
Iatrogenic Dyskinesias
Tardive dyskinesia
Iatrogenic Dyskinesias
Dopamine agonist-induced chorea
inappropriate cocontraction of antagonistic muscles, re-
sulting in repetitive twisting movements.
Focal dystonias treated with
botulinum toxin injection: generalized with trihexiphenidyl (Ar-
random twitching or jerking, excessive, involuntary, pur-
poseless movements
oromandibular dystonia
(Meige syndrome)
most frequent focal dystonia, involving neck
muscles. Intermittent or sustained head deviation
Spasmodic torticollis
distal upper extremity, postural or action tremor; is of-
ten progressive. May be familial (autosomal dominant with variable
Tremor (Essential)
Treatment includes propranolol, primidone, topira-
mate. Alcohol responsive
Rapid jerking movement
treat primary cause when known. Clonazepam, 5-hydroxytryptophan (5-HTP) and valproic acid often used
Sudden loss of postural tone
Classically described as a “flap.” Patient has arms outstretched, palms out, but cannot keep hands still.
Occurs in metabolic encephalopathies
(uremic, hepatic), drug intoxications, and structural brain lesions.
Memory loss, language and visuospatial impairments, mood distur-
bance, delusions, hallucinations, changes in personality and behav-
ior. Generalized seizures (10–20%).
Alzheimer’s Disease
A progressive dementia (global cognitive decline) of middle and late life.
No one test is diagnostic. It is a clinical diagnosis/diagnosis of exclu-
sion. Clinical, abnormal mental status exam and exclusion of other
illnesses (e.g., normal pressure, hydrocephalus, metabolic disease,
multi-infarct dementia, tumor, and infections). Etiology is unknown,
but frequency increases with age. Familial associations with amyloid
precursor protein and presenilin protein mutations; inheritance of
E4 allele apolipoprotein E. MRI demonstrates cortical atrophy. Sin-
gle photon-emission computed tomography (SPECT), PET scans
have bilateral temporoparietal hypometabolism.
Senile plaques (dystrophic neurites surrounding an amyloid core)
and neurofibrillary tangles are prominent, associated with cerebral atrophy and ventricular dilatation.
 Treatment Steps
Symptoms such as agitation and depression are treatable. Acetyl-
cholinesterase inhibitors (tacrine, donepezil, rivastigmine,
galantamine). Newer medications include memantine (Namenda).
Prominent, early personality change, apathy, abulia, disordered speech, aphasia.
Pick’s Disease
Dementia with lobar atrophy.
Occasionally familial. CT/MRI—prominent symmetric/asymmetric
frontotemporal atrophy
Frontotemporal lobar atrophy. Argyrophilic neuronal (Pick) inclu-
sion bodies in frontal and temporal lobes. Frontal and temporal at-
rophy sparing superior temporal gyrus.
 Treatment Steps
Supportive treatment for dementia.
Dementia. Clinical features determined by location
1)(location?)psychomotor slowing, decreased atten-
tion, concentration and memory deficits, gait disorder (lower half parkinsonism)
2)(location?) aphasia, apraxia, visuospatial defects, amnesia
Progressive intellectual decline. Associated stroke risk factors and
multiple infarctions, ventricular dilatation. Multifocal decreases in
cerebral blood flow on PET/SPECT.
Multi-infarct Dementia
Episodic neurologic dysfunction secondary to infarcts of the cere-
bral hemispheres leading to dementia.
1)=subcortical 2)=cortical
 Treatment Steps
1. Aspirin, ticlopidine, clopidogrel.
2. Treat hypertension.
Urinary incontinence, dementia, gait disturbance (slow, short steps;
Normal CSF pressure. Enlarged cerebral ventricles, relatively normal
cortical gyri on CT/MRI. Subependymal CSF resorption on MRI.
Hydrocephalus (Normal Pressure)
Progressive dementia usually occurring in the elderly
Increased resistance to arachnoid villus absorption of CSF. Associ-
ated with subarachnoid hemorrhage, trauma, tumor, infection.
 Treatment Steps
Ventriculoperitoneal shunt. Significant improvement w/ CSF removal.
Subacute progressive dementia, myoclonus.
Clinical, EEG high-voltage, triphasic periodic complexes on depressed background.
Creutzfeldt–Jakob Disease
Progressive dementia, due to abnormal isoform of prion protein
(PrPSc). Disease may be infectious, inherited, or sporadic.
Spongiform change (vacuolar dilatation of neurons), amyloid
plaques, loss of neurons, and gliosis.
 Treatment Steps
Ptosis, miosis, anhidrosis, enophthalmos, narrowing palpebral fis-
sure, flushing on affected side of face
Horner Syndrome
Interruption of the unilateral sympathetic system due to trauma,
lung apex tumor, CNS lesions, vascular headache.
Cocaine and para-OH-amphetamine tests
Unilaterally dilated pupil with slow response to light and accommo-
dation; areflexia may be present.
Adie’s Pupil
Postganglionic parasympathetic lesion.
Weak pilocarpine solution results in Adie’s pupil contraction
Very small pupils that fail to constrict to light with accommodation
preserved. One or both eyes affected
Argyll–Robertson Pupil
Argyll–Robertson pupil is a sign of neurosyphilis. Rule out CNS structural lesions
Pupils fixed and dilated, ophthalmoplegia and contralateral hemi-
Uncal Herniation Syndrome
Defective direct light reflex with intact consensual reflex on “swing-
ing flashlight test.”
Marcus Gunn Pupil
Eye “down and out.”
Third Cranial Nerve Lesion
Affects medial rectus, superior rectus, inferior rectus, inferior
oblique, and levator of eyelid.
vertical diplopia.
Fourth Cranial Nerve Lesion
Superior oblique muscle affected;
Weak lateral rectus, poor abduction
Sixth Cranial Nerve Lesion
Unreactive, Midposition Pupil
(lesion localization)
Midbrain lesion
Pinpoint Pupils
Pontine lesion
Unilaterally Dilated and Unreactive Pupil
Possible third nerve lesion
—Daytime sleep attacks accompanied by cataplexy,
hypnogogic hallucinations, and sleep paralysis. Rapid onset REM
Treat with amphetamine, pemoline, methylphenidate,
dextroamphetamine. Clomipramine for cataplexy.
—Arousal from NREM sleep
Night Terror
—Awakening from REM sleep
Gliomas type
most common of all gliomas, and most common
brain tumor in childhood
Gliomas type
usually frontal lobe, slow growing, presents
with headache, seizures, and the tumor may bleed.
most common posterior fossa tumor in chil-
dren. Fast growing, radiosensitive
Gliomas type
Infratentorial more
than supratentorial and filum terminale
ependymal surface location
CNS neoplasm type
Usually benign, associated with type 2 neurofibromatosis
CNS neoplasm type
Suprasellar, visual field defects often (bitemporal hemianopsia), en-
docrinopathies, diabetes insipidus.
CNS neoplasm type
Endocrine and visual symp-
Pituitary Tumors
Secretory in 75%, nonsecretory in 25%
CNS neoplasm type
Unilateral hearing loss, tinnitus
Acoustic Schwannoma
May compress cranial nerves V, VII,and brain stem. Bilateral in neurofibromatosis type 2
Lucid interval after brief unconsciousness followed by increasing
obtundation. Sometimes no lucid interval present. Extreme
headache, contralateral hemiparesis
Epidural Hematoma
History and physical, CT scan.
 Treatment Steps
1. Neurosurgical evaluation for possible drainage.
2. Empiric anticonvulsants.
3. May use mannitol to control intracranial pressure/swelling
Acute, subacute, and chronic from cortical vein tear.
Acute—From high speed trauma, coma from impact; CT useful
(see Fig. 11–2).
Subacute—Several days of lethargy, then deterioration; MRI.
Chronic—Minor trauma may cause gradual deterioration; MRI.
Subdural Hematoma
Sudden-onset severe headache, may have sentinel bleed with minor
symptoms. May have stiff neck, photophobia, nausea, and focal signs
Subarachnoid Hemorrhage
 Treatment Steps
1. Supportive care.
2. Bed rest, analgesics.
3. Prophylactic anticonvulsants.
4. Carefully control blood pressure.
High fever, muscular rigidity, akinesia, decreased consciousness, au-
tonomic dysfunction all as a complication of major tranquilizers, tri-
cyclic antidepressants, or withdrawal from dopaminergic agents.
Neuroleptic Malignant Syndrome (NMS)
 Treatment Steps
1. Withdraw neuroleptics.
2. Bromocriptine or dantrolene.
3. Supportive care.
Acute respiratory failure in a patient with myasthenia gravis.
Myasthenic Crisis
 Treatment Steps
1. Discontinue cholinesterase (ChE) inhibitors.
2. Ventilate patient in intensive care unit (ICU).
3. Slowly reintroduce ChE inhibitors.
Depression of level of consciousness with myoclonus, asterixis,
tremor, seizures. EEG abnormal; may have triphasic waves.
Uremic Encephalopathy
Treat renal disease.
Confusion, lethargy, headache, seizures. The more rapid the sodium drop, the more severe the symptoms.
Syndrome of inappropriate an-
tidiuretic hormone (SIADH): treat with water restriction; demeclocycline if chronic.
Abdominal pain, vomiting, constipation or diarrhea, confusion, seizures, neuropathy.
Watson–Schwartz test for elevated aminolevulinic acid
Acute Intermittent Porphyria
Deficiency of porphobilinogen deaminase
 Treatment Steps
1. Hematin and high-carbohydrate diet.
2. Carbamazepine for seizures.
Acute exposure—abdominal colic, headache, behavioral change, en-
cephalopathy, seizures. Chronic exposure—gastrointestinal distur-
bances, anemia, weight loss, behavioral disturbances, cognitive impairment. Peripheral neuropathy (wrist drop) in adults.
Lead Toxicity
Basophilic stippling, lead line on x-ray. Lead colic is most frequent
sign in adults. Screen with lead level, ethylenediaminetetraacetic
acid (EDTA) test if lead level not over 80.
Neuropathy from segmental demyelination.
 Treatment Steps
Chelation with Ca-EDTA or penicillamine.
Asterixis, slow EEG, depressed mental status, elevated blood ammo-
Liver Disease—Hepatic Encephalopathy
Give protein-free diet, neomycin, or lactulose.
Nausea, vomiting, abdominal pain, renal failure, neuropathy, encephalopathy.
History, exam, Mees’ lines (transverse lines in nails).
Arsenic Toxicity
 Treatment Steps
Use dimercaprol (BAL) or penicillamine.
—Wernicke’s encephalopathy, nystagmus,
ataxia, confusion, amnesia
Thiamine (B1) deficiency
—Pernicious anemia, megaloblastic ane-
mia, subacute combined spinal cord degeneration
Cobalamin (B12) deficiency
—Excess can produce sensory neuropathy
Pyridoxine (B6)
Tinnitus, hearing loss, delirium, coma, seizures
Salicylate Toxicity
History, respiratory alkalosis, serum salicylate level, rapid screen: ferric chloride test
 Treatment Steps
1. Treat shock.
2. Protect airway.
3. Routine drug intoxication measures.
Vomiting, lethargy, and delirium due to brain edema after a viral ill-
ness that was treated with aspirin, with abnormal liver functions, hy-
poglycemia, and respiratory alkalosis
Liver shows microvesicular
fatty infiltration
Reye’s Syndrome
Type I—visceromegaly. Type II/III—gaze palsies, trismus, spasticity,
dementia, seizures, and visceromegaly.
Gaucher’s Disease
Glucocerebroside lipidosis.
Clinical. Bone marrow may contain Gaucher cells (lipid-laden
macrophages). Enzymatic analysis.
Deficiency of lysosomal glucocerebrosidase. Autosomal recessive.
Polyneuropathy with neuralgia, cerebrovascular disease in middle
age, vasculopathy with renal and cardiac disease, cutaneous angio-
keratoma and telangectasias.
Fabry’s Disease
Sphingolipidosis. Inborn error of metabolism.
Clinical exam. Enzymatic analysis.
Deficiency of lysosomal α-galactosidase A. Sex-linked recessive. Gly-
cosphingolipid deposition in tissues (eyes, kidney, heart, CNS).
Treatment Steps
Carbamazepine, phenytoin for pain. Renal transplantation.
Progressive dementia and visual impairment, irritability, muscle
weakness, spasticity, seizures.
Cherry-red spot in the fovea. Abnormal electroretinogram (ERG) and visual evoked potential (VEP).
Tay–Sachs Disease
Infantile cerebromacular degeneration caused by mutations of
α-subunit of the lysosomal β-hexosaminidase A gene.
Accumulation of gangliosides in retina and CNS neurons. Autosomal recessive
Pain, fatigue, and stiffness on exertion.
Forearm exercise test—low/absent lactate production. Elevated
muscle glycogen on biopsy.
McArdle’s Disease
A glycogen-storage disorder due to a mutation in the myophosphorylase gene.
Deficient muscle phosphorylase
 Treatment Steps
Glucose and reduce exercise.
Progressive weakness,
hypotonia, heart failure
Pompe’s Disease
Acid α-glycosidase (acid maltase) deficiency
Episodic Muscle Weakness
, low potassium
Episodic Muscle Weakness
Familial hypokalemic periodic paralysis—autosomal dominant,due to mutation of DHP-sensitive calcium channel
Episodic Muscle Weakness,
elevated potassium.
Familial hyperkalemic periodic paralysis—autosomal dominant
(mutation of the human muscle sodium channel), shorter weakness attacks
Obesity, mental retardation, retinitis pigmentosa, hypogonadism,
polydactyly, diabetes insipidus, autosomal recessive
Laurence–Moon–Biedl Syndrome
Multisystem atrophy with orthostatic hypotension and CNS degeneration (parkinsonism; cerebellar, pyramidal features)
Shy–Drager Syndrome
Neuronal loss intermediolateral cell column
Most common spinocerebellar degeneration onset childhood. Mutation in GAA repeat frataxin (X25) gene
Friedreich’s Ataxia
Demyelinating polyneuropathy, slowly progressive, peroneal muscle
Mutation in peripheral myelin protein-22 gene.
Charcot–Marie–Tooth Disease
Café au lait spots (more than six of 1.5-cm size), neurofibromas, schwannomas, optic nerve gliomas,
Lisch nodules iris.
Neurofibromatosis 1
mutation in NF-1 neurofibromin gene
Bilateral vestibular schwannomas, menin-
giomas, astrocytomas, posterior lens opacities
Neurofibromatosis 2
mutation in NF-2
(MERLIN protein) gene.
mental retardation, epilepsy, cutaneous facial
lesions, and organ hamartomas
Autosomal dominant
Tuberous Sclerosis
Autosomal disorder with retinal and cerebral hemangioblastomas;
renal, pancreatic, and epididymal cysts; and renal carcinomas
von Hippel–Lindau Disease
Progressive cerebellar ataxia (Purkinje cell degeneration), oculocu-
taneous telangiectasia, radiosensitivity, immunodeficiency and lym-
phoid malignancies.
Due to mutated ATM gene with phosphoinositol-3′kinase activity
Static encephalopathy with abnormal motor function from birth.
Antepartum events cause 90%; also associated with prematurity and
low birth weight.
Cerebral Palsy
History and physical examination, skull x-ray, CT/MRI of the head,
EEG, and psychological testing, evaluation of developmental mile-
Includes periventricular leukomalacia, periventricular/intraventric-
ular hemorrhages, infarction
 Treatment Steps
1. Multidisciplinary support.
2. Orthopedic intervention.
3. Physical/occupational therapy.
4. Control seizures.
5. Social services.
Cerebral Palsy
associated with prematurity. Either periventricular
leukomalacia or periventricular hemorrhage (greater involvement of intellectual function)
Spastic diplegia
Cerebral Palsy
associated with congenital malformations & intrauterine infections. Severe disability associated with mental retardation and seizures (Lennox–Gastaut syndrome)
Spastic quadriplegia
Cerebral Palsy
caused by developmental malformations, stroke, trauma. Seizures associated
Spastic hemiplegia
Cerebral Palsy
bilirubin encephalopathy (rare) and causes of spastic
short seizure without focal features
Seizure in child age 3 months to 5 years, associated with fever/infection
Febrile Seizures
History and physical exam; rule out meningitis, septicemia. Hospital
admission, including routine lab, lumbar tap.
 Treatment Steps
1. Temperature reduction (tub bath, acetaminophen [Tylenol]).
2. Medication (diazepam [Valium] 0.2 mg/kg rectally or IV).
Asymptomatic, or may demonstrate pain, red eye, and vision loss.
May note halos around lights.
Ophthalmic disorder of elevated intraocular pressure, which is etiology of 10% of blindness in the United States.
On exam, elevated intraocular pressure (over 22 mm Hg by Schiøtz’
Types include primary angle-closure, open-angle, secondary, and
congenital. May be of sudden obstructive (primary angle-closure) etiology, or chronic obstruction (open-angle).
eye pain, vomiting, vision
loss, sudden onset
Primary angle-closure GLAUCOMA
 Treatment Steps
Primary Angle-Closure—Surgical iridectomy, with acetazo-
lamide (Diamox) and β-blockers preop.
vision field defects, disc
cupping, no pain!
Primary open-angle GLAUCOMA
 Treatment Steps
Primary Open-Angle—Treatment includes topical (eyedrops):
• β-Blockers––Timoptic (timolol).
• Carbonic anhydrase inhibitors––Trusopt(clorzolamide), Diamox
Narrowed visual field; larger blind spot, vision may be normal or im-
Fundoscopic exam (disc swollen, associated hemorrhages/exu-
Elevation/swelling of optic nerve head.Papilledema may cause optic atrophy.
Secondary to elevated CSF pressure, and a result of infection, optic
neuritis, metabolic disease, CNS lesions.
 Treatment Steps
Treat primary cause.
Progressive painless visual loss, or asymptomatic. Diagnose via oph-
thalmoscopic examination.
Lens opacity (nuclear, cortical, and subcapsular).
Age related; ultraviolet light exposure association, and may also relate to trauma, corticosteroids, and diabetes.
 Treatment Steps
Cataract removal and intraocular lens implantation.
light flashes in eye
Retinal detachment
retinal degeneration or
trauma induced
Constricted pupil differential
iritis, drugs, Horner’s
Dilated pupil differential
Adie’s, glaucoma, drugs, third nerve lesion.
thickened conjunctiva
thickened conjunctiva encroaching on cornea
small pupil, ciliary injection
treat with cycloplegics and
large pupil, diffuse injection
treat with pilocarpine, acetazolamide [Diamox], etc.
eye anterior chamber blood
Hyphema—trauma induced
blocked meibomian gland duct
Sudden vision loss
rule out artery (secondary to emboli, retina
white) or vein occlusion.