00 Neurology - Lange Outline Review Usmle Step 2

Front 1

Symptoms
Unilateral, throbbing, visual and autonomic disturbances, nausea.
Basilar migraine may present with ataxia, vertigo, dysarthria.

Diagnosis
Typical symptoms in young adult, positive family history often, 75%
of cases are women. Increased incidence of motion sickness and in-
fantile colic.

Back 1

Migraine

Description
• Classic migraine—unilateral throbbing headache with aura.
• Common migraine—subtle onset, no aura, represents 80% of cases

Pathophysiology
Serotonergic neurons in brain stem raphe involved. Vasomotor
changes. Spreading depression of Leao (neuronal depression). Cor-
tical oligemia, extracranial vasodilation.

Hint 1

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),
cyproheptadine.
3. Avoid alcohol, tyramine (cheese), chocolate, citrus, onions, and
nitrite.

Front 2

Symptoms
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.

Diagnosis
Typical symptoms, men more often (95%), worse with alcohol and
sleep.

Back 2

Cluster Headache

Description
Vascular headache, also known as histamine cephalalgia, Horton’s
headache, migrainous neuralgia.

Hint 2

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),
cyproheptadine.
3. Avoid alcohol, tyramine (cheese), chocolate, citrus, onions, and
nitrite.
2. Also prednisone, oxygen, lithium.

Front 3

Symptoms
Temporal headache, focal tenderness superficial temporal/occipital
arteries, vision loss, malaise. Can be associated with polymyalgia
rheumatica.

Diagnosis
Clinical suspicion, elevated erythrocyte sedimentation rate (ESR),
biopsy of temporal artery.
patient
over age 50 (but often
much older) who
presents with unilateral
headache in temporal
region, or eye pain

Back 3

Temporal Arteritis (Giant Cell)

Description
Inflammatory systemic illness in elderly. Medical emergency.

Pathology
Mononuclear cell and giant-cell infiltrates in cranial arteries. Skip le-
sions.

Hint 3

Treatment Steps
Corticosteroids
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
blindness.

Front 4

Symptoms
Those of increased intracranial pressure without tumor, headache,
visual disturbances, nausea, vomiting, dizziness.

Diagnosis
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.

Back 4

Benign Intracranial Hypertension
(Pseudotumor Cerebri)

Pathology
Decreased cerebrospinal fluid outflow conductance.

Hint 4

Treatment Steps
1. Acetazolamide, diuretics.
2. Prednisone.
3. Serial lumbar punctures.
4. Optic nerve sheath incision, lumboperitoneal shunts.

Front 5

Symptoms
Brief episodes of pain in fifth cranial nerve distribution, third and
second divisions

Diagnosis
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.

Back 5

Trigeminal Neuralgia (Tic Douloureux)

Pathology
Degenerative changes gasserian ganglion. Compression of trigemi-
nal nerve by vascular loops causing demyelination. MS; demyelina-
tion of root entry zone.

Hint 5

Treatment Steps
1. Phenytoin, carbamazepine, baclofen, gabapentin, amitriptyline,
lamotrigine.
2. Alcohol nerve block.
3. Microvascular decompression.
4. Percutaneous radiofrequency nerve thermocoagulation.

Front 6

Impending loss of consciousness secondary to inadequate cerebral
perfusion.

Back 6

Syncope and Presyncope
Etiology vascular or cardiac, not neurologic.
May be due to hyperventilation, orthostatic hypotension, vasovagal, micturition

Front 7

Disorder of balance system, dizziness when standing and walking,

Back 7

Dysequilibrium
multiple possible central nervous system (CNS) causes. Chronic and
common in elderly.

Front 8

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.

Back 8

Vertigo
disorders resulting in vertigo
include vestibular neuronitis, labyrinthitis, posttraumatic brain stem
transient ischemic attack (TIA), MS, posterior fossa tumor, and basi-
lar artery migraine

Front 9

hearing loss, tinnitus, and vertigo.

Back 9

Ménière’s disease

Front 10

vertigo aggravated by change in head position, sneezing, noises

Back 10

Perilymph fistula
oval window tear resulting

Front 11

premonitory phase followed by immediate loss
of consciousness, tonic, clonic, and postictal (confusion) phases.
Electroencephalogram (EEG) hallmark is immediate bihemispheric
discharges

Back 11

Tonic and/or clonic
Generalized Epileptic Seizures

Front 12

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.

Back 12

Absence seizures
Generalized Epileptic Seizures

Hint 12

Drug of choice: ethosuximide.

Front 13

sudden generalized or focal muscle jerk, EEG discharge
concurrent with jerk

Back 13

Myoclonic
Generalized Epileptic Seizures

Front 14

1 to 2 sec. Drop attacks limited or generalized, .

Back 14

Atonic seizures
Generalized Epileptic Seizures
secondary to diffuse brain disease

Front 15

infantile spasms (sudden extensor/flexor trunk movements) psychomotor retardation and EEG hyparrhythmia (disorganized high-voltage slow waves, spikes, and sharp waves)

Back 15

West syndrome
Generalized Epileptic Seizures
pre- & postnatal causes including genetic disorders, injuries, infections,
metabolic disorders.

Hint 15

Adrenocorticotropic hormone (ACTH), valproic acid or clonazepam

Front 16

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.

Back 16

Atypical absence
Generalized Epileptic Seizures

Front 17

no impairment of consciousness.
start in one motor cortical area—may spread with progressive jerking (jacksonian seizures)

Back 17

Simple partial sezures, Motor

Front 18

no impairment of consciousness.
tingling, numbness, sensation of movement or absence
of body part.

Back 18

Simple partial sezures, Sensory, Parietal

Front 19

no impairment of consciousness.
flashes of light, hemianopsia, scotomata. Visual associa-
tion cortex, complex images—micropsia, macropsia, distortions.

Back 19

Simple partial sezures, Sensory, Occipital

Front 20

no impairment of consciousness.
auditory, olfactory hallucinations, emotional or psy-
chic phenomena, memory or cognitive distortions (déjà vu),
time distortions, detachment, affective (fear, depression)

Back 20

Simple partial sezures, Sensory, Temporal

Front 21

impaired level of awareness and con-
sciousness, amnesia for event, automatisms may occur.

Back 21

Complex partial seizures
Focal Epilepsy

Front 22

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.

Back 22

Partial epileptic syndromes
Focal Epilepsy

Front 23

weakness in a part of the body after a seizure

Back 23

Todd’s postictal paralysis
reflects a partial seizure
having taken place

Front 24

Continued or recurrent seizures of any type with unconsciousness
for 20 or more minutes

Back 24

Status Epilepticus

Hint 24

Treat as medical emergency, intravenous
(IV) lorazepam (binds γ-aminobutyric acid [GABA]A receptor) followed by IV phenytoin

Front 25

quadriplegia and lower cranial nerve paralysis, but conscious with higher mental activity intact.

Back 25

Locked-in syndrome

Front 26

Patient cannot be aroused, total unresponsivenes
may demonstrate response to noxious stimuli

Back 26

COMA

Pathology
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
glucose.
• Metabolic. Abnormal labs.

Hint 26

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
MRI.
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.

Front 27

patient in coma, but appears awake

Back 27

Akinetic mutism (coma vigile)

Front 28

coma (lesion localization)
hyperpnea alternating with apnea

Back 28

Cheyne–Stokes respiration
bilateral cerebral hemisphere damage

Front 29

coma (lesion localization)
long inspiration then pause
or
ataxic (chaotic) breathing

Back 29

Apneustic respiration or ataxic (chaotic) breathing
lower pontine lesions

Front 30

coma (lesion localization)
extension/adduction of arms
and legs

Back 30

Decerebrate posture. Midbrain lesion

Front 31

coma (lesion localization)
flexion arms, wrists, and fingers

Back 31

Decorticate posture. Lower diencephalon lesion

Front 32

sudden onset of a focal neurologic deficit due to cerebrovas-
cular disease, lasting more than 24 hours.

Back 32

Stroke
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

Front 33

focal, abrupt in onset, usually lasts less than 1 hour; resolve
within 24 hours

Back 33

TIA
Greatest risk for stroke in days to weeks.

Front 34

stroke or TIA (origin)
abrupt onset while active
Patients rarely lose consciousness

Back 34

Cerebral Embolism
most common
source of embolism is the heart; less common peripheral arterial
embolization.

Front 35

stroke or TIA (origin)
abrupt onset while active
may lose consciousness

Back 35

Subarachnoid Hemorrhage
aneurysm at circle of Willi

Front 36

stroke or TIA (origin)
abrupt onset while active
may lose consciousness; CT positive for hematoma

Back 36

Intraparenchymatous Hemorrhage

Front 37

stroke or TIA (origin)
10% preceded by TIA, often during sleep; rarely lose
consciousness.
May have normal CT and lumbar puncture early;
rarely have headache

Back 37

Thrombotic

Front 38

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.

Back 38

Middle cerebral artery

Front 39

Ischemic Stroke (artery?)
contralateral leg paralysis, abulia, aki-
netic mutism, sphincter incontinence

Back 39

Anterior cerebral artery

Front 40

Ischemic Stroke (artery?)
contralateral weakness or sensory loss, speech
disturbance, ipsilateral visual loss

Back 40

Carotid artery

Front 41

Ischemic Stroke (artery?)
contralateral homonymous hemianopia, cortical blindness, prosopagnosia, alexia without agraphia.

Back 41

Posterior cerebral

Front 42

Ischemic Stroke (artery?)
ataxia, hemiplegia, horizontal gaze, palsy, nystagmus vertigo, deafness, dizziness

Back 42

Vertebrobasilar

Front 43

Ischemic Stroke (artery?)
ataxia, dizziness, nausea, vomiting

Back 43

Cerebellar

Front 44

Ischemic Stroke (artery?)
pure motor or sensory strokes, clumsy hand syndrome may be seen

Back 44

Lacunar infarct—due to lipohyalinosis

Front 45

Ischemic Stroke

Back 45

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-
ulopathies.

Hint 45

Treatment Steps
1. Prevention—treat modifiable risk factors (above).
2. TIA—antiplatelet aggregating drugs (aspirin, ticlopidine, clopi-
dogrel).
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.

Front 46

headache, vomiting, decreased
level of consciousness
Stroke (cause)

Back 46

Hypertensive intracerebral hemorrhage

Front 47

Hypertensive intracerebral hemorrhage (location?)
Unusual eye signs

Back 47

thalamic hemorrhage

Front 48

Hypertensive intracerebral hemorrhage (location?)
pin-
point reactive pupils, coma, quadriplegia, ophthalmoplegia, decerebrate posturing

Back 48

Pontine hemorrhage

Front 49

Hypertensive intracerebral hemorrhage (location?)
vertigo,headache, vomiting, and ataxia.

Back 49

Cerebellar bleed

Front 50

Hypertensive intracerebral hemorrhage (location?)
hydrocephalus

Back 50

Ventricular extension
associated with poor prognosis.

Front 51

Sudden severe headache, meningeal irrita-
tion; exam may be normal

Back 51

Subarachnoid hemorrhage—caused by saccular aneurysm or vascular malformation

Front 52

Hemorrhagic Stroke (work up/treatment?)
Other causes of bleeding include arteriovenous malformation, tu-
mor, anticoagulant therapy, cocaine abuse, cerebral amyloid an-
giopathy, angiitis

Back 52

Initial test of choice—CT scan. Do lumbar puncture only if CT not available, and check for papilledema before doing lumbar puncture.

Hint 52

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).

Front 53

Symptoms
Optic neuritis, vertigo, paresthesias, sensory loss, pain, incoordination,
bladder dysfunction, nystagmus, weakness in 50%, trigeminal neural-
gia, diplopia, internuclear ophthalmoplegia, characteristically bilateral.

Back 53

Multiple Sclerosis

Description
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
DIAGNOSIS OF MS
• 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)

Hint 53

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-
otrigine.

Front 54

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.

Back 54

Optic Neuritis

Description
Inflammation of the optic nerve, often from optic nerve demyelination. Episode of optic neuritis may precede MS.

Diagnosis
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

Hint 54

Treatment Steps
Intravenous methylprednisolone (Solu-Medrol). Interferon-β prohylaxis with 2 or more MRI lesions.

Front 55

Symptoms
Headache, stiff neck, confusion, seizures, fever, coma. Focal and
multifocal signs. Mortality 10–30%.
postinfectious and postvaccinal

Back 55

Acute Disseminated Encephalomyelitis

Description
Monophasic, mostly postinfectious and postvaccinal

Hint 55

Treatment Steps
Corticosteroids.

Front 56

Symptoms
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).

Diagnosis
High CSF protein, with few cells, short duration of progression;
nerve conduction studies. With HIV infection, CSF pleocytosis is
found.

Back 56

Guillain–Barré Syndrome—A Peripheral
Neuropathy

Description
Acute inflammatory polyradiculoneuropathy in young to middle-
aged adults.

Pathology
Endoneurial perivascular mononuclear cell infiltration; multifocal root and nerve demyelination

Hint 56

Treatment Steps
Spontaneous recovery may occur, plasmapheresis, or intravenous im-
munoglobulin.

Front 57

Symptoms
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.

Back 57

Acute Meningitis

Diagnosis
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%

Pathology
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-
mans.
6. HIV patients—acute aseptic meningitis.
7. Viral meningitis—most common agent is mumps; enterovirus is
most common viral group.

Hint 57

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
suggested
dexamethasone may be
useful in acute bacterial
meningitis if given before
or with first dose of
antibiotics.
• Prophylaxis (rifampin or
ciprofloxacin) is given to
close contacts of
patients with meningitis
due to N. meningitidis,
rifampin, or ciprofloxacin

Front 58

Symptoms
Tabes dorsalis, general paresis, gumma, optic atrophy, cerebrovascu-
lar disease from invasion of leptomeninges with Treponema pallidum.
Neurosyphilis most often is asymptomatic.

Back 58

Neurosyphilis

Hint 58

Treatment Steps
High-dose parenteral penicillin

Front 59

hypotension, fever, headache, chills, and tachycardia in first 24 hours of treatment of neurosyphilis

Back 59

Jarisch–Herxheimer reaction
release of treponemal products; not a penicillin
reaction

Front 60

Infection spread from paranasal sinuses and middle ear
marked peripheral leukocytosis.

Back 60

Empyema (Subdural)
treptococcus
most often

Front 61

Symptoms
Focal signs and acute febrile illness, seizures and coma, or depressed state of consciousness. Headache, fever, and nuchal rigidity.

Diagnosis
Aseptic CSF, lymphocytic CSF with normal glucose

Back 61

Viral Encephalitis

Description
Mortality of 10%

Pathology
Caused by mumps, herpes simplex type 1, lymphocytic choriomenin-
gitis, arboviruses, EBV. Mouse and hamster exposure linked to lymphocytic choriomeningitis

Hint 61

Treatment Steps
Treat edema and seizures

Front 62

respiratory spasms, dysphagia–hydrophobia

Back 62

Rabies—brain stem encephalitis, incubation 30 to 60 days or more fatal in acute stage in
95%

Front 63

an acute febrile illness w/ evidence of lower motor
neuron paralysis

Back 63

Polio—etiology: enteroviruses that damage anterior horn cells of spinal cord

Front 64

most common opportunistic
CNS pathogen in acquired immune deficiency syndrome (AIDS)

Back 64

Toxoplasmosis—intracellular parasite

Front 65

Ataxia and myoclonus, dementia

Back 65

Creutzfeldt–Jakob, kuru

Front 66

Elevated gamma globulin and measles antibodies in CSF

Back 66

Subacute sclerosing panencephalitis

Front 67

Due to SV40-PML

Back 67

Progressive multifocal leukoencephalopathy (PML)

Front 68

temporal lobe localization
CNS infection

Back 68

Herpes simplex encephalitis

Hint 68

treat with acyclovir

Front 69

progressive muscle weakness
and atrophy
diagnosis by family history, weakness, muscle biopsy,
probable death by age 20.
Elevated creatine kinase (CK).

Back 69

Duchenne
due to mutation on X chromosome (dystrophin gene;
Xp21 locus)

Front 70

NEUROMUSCULAR DISEASE
autosomal recessive and dominant forms

Back 70

Limb–girdle

Front 71

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

Back 71

Myotonic

Hint 71

Treat with phenytoin sodium (Dilantin).

Front 72

NEUROMUSCULAR DISEASE
Fascioscapulohumeral

Back 72

autosomal dominant. No carriers

Front 73

Symptoms
Weak with activity, fatigue, ocular symptoms; facial muscles, voice,
limb muscles, and respiration can be affected.

Diagnosis
Tensilon test, electromyogram—repetitive nerve stimulation, posi-
tive antibodies to acetylcholine receptor.

Back 73

Myasthenia Gravis

Description
Autoantibodies against acetylcholine receptor. Associated with
thymic hyperplasia and thymoma. Women more than men

Hint 73

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

Front 74

Symptoms
Limb weakness without cranial muscle weakness and absence of
deep tendon reflexes. Found with small cell lung cancer or as autoimmune disease.

Diagnosis
Response to repetitive stimulation (increasing action potential)

Back 74

Eaton–Lambert Syndrome

Description
Facilitating neuromuscular transmission disorder due to autoanti-
bodies against presynaptic neuromuscular voltage-gated calcium
channels

Hint 74

Treatment Steps
Guanidine. Calcium channel antagonists are contraindicated.

Front 75

Symptoms
Begin 12–36 hours after ingestion of exotoxin in contaminated
food. Blurred vision, dilated fixed pupil, flaccid quadriplegia, dysphagia, dysarthria, respiratory paralysis, dry mouth.

Back 75

Botulism

Description
Toxin of Clostridium botulinum blocks acetylcholine release.

Diagnosis
Isolate toxin from stool, stomach, or food. Spores also found in
honey. EMG—decreased compound muscle action potentials; post-
tetanic facilitation

Hint 75

Treatment Steps
1. Cathartics.
2. Trivalent antitoxin (A, B, E).
3. Quinidine.
4. Supportive therapy.

Front 76

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.

Back 76

Myotonic dystrophy

Front 77

Impaired muscle relaxation

Back 77

Myotonia congenita

Hint 77

treat with phenytoin

Front 78

eosinophilia, weakness, myalgia
undercooked pork most
common source

Back 78

Trichinosis

Description
Nematode Trichinella spiralis infection,

Hint 78

Treatment Steps
Thiabendazole, mebendazole.

Front 79

Symptoms/Diagnosi
Muscle spasms, trismus (lockjaw), facial muscle spasm (risus sardon-
icus), opisthotonos, autonomic dysfunction. Clinical diagnosis

Back 79

etanus

Description
Lockjaw, intense motor neuron activity.

Pathology
Caused by neurotoxin (tetanospasmin) from Clostridium tetani, a
gram-positive coccus, which inhibits spinal inhibitory interneurons.

Hint 79

Treatment Steps
1. Cleaning and debridement of infected site.
2. Antibiotics.
3. Antitoxin (human hyperimmune globulin).
4. Skeletal muscle relaxants (diazepam).

Front 80

Symptoms
Idiopathic, acute, peripheral facial weakness; may have ipsilateral
hyperacusis and decreased taste.

Diagnosis
Inexcitable facial nerve, denervation of facial muscles after 2–3
weeks.

Back 80

Bell’s Palsy

Hint 80

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.

Front 81

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%

Back 81

Amyotrophic lateral sclerosis (ALS)
Familial ALS has mutation for
superoxide dysmutase gene

Hint 81

Treated with riluzole

Front 82

floppy infant, delayed milestones, progressive atrophy, respiratory
and swallowing problems

Back 82

Type 1 proximal spinal muscular atrophy (Werdnig–Hoffmann)
Autosomal recessive, deletions in neu-
ronal apoptosis inhibitory gene in two-thirds.

Front 83

Weakness,
onset age 20–40, muscle cramps, gynecomastia, dysphagia, dysarthria

Back 83

Bulbospinal muscular atrophy (Kennedy’s disease)
X-linked recessive, increased CAG repeats in androgen receptor gene

Front 84

Symptoms
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.

Back 84

Huntington’s Disease

Description
Chorea, personality change, psychiatric syndromes, progressive de-
mentia. Autosomal dominant with expanded CAG repeat sequence in huntingtin gene.

Diagnosis
Exam, family history.

Pathology
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.

Hint 84

Treatment Steps
No cure but dopaminergic antagonists: presynaptic—tetrabenazine,
reserpine; postsynaptic—haloperidol (Haldol).

Front 85

Symptoms
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.

Diagnosis
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.

Back 85

Wilson’s Disease (Hepatolenticular Degeneration)

Description
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

Hint 85

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.

Front 86

Symptoms
Characterized by resting tremor (pill-rolling—5–7 Hz), cogwheel
rigidity, bradykinesia, impaired postural reflexes, masked facies, flexed posture, hypophonia.

Diagnosis
Clinical exam. Reduced 6-[18F]-fluorolevodopa in striata with
positron-emission tomography (PET)

Back 86

Parkinson’s Disease

Description
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

Pathology
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.

Hint 86

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

Front 87

methylphenyltetrahydropyridine (MPTP);
neuroleptics block striatal dopamine receptor sites
Iatrogenic Dyskinesias

Back 87

Drug-induced parkinsonism

Front 88

linguofasciobuccal, choreiform
Iatrogenic Dyskinesias

Back 88

Tardive dyskinesia

Front 89

levodopa
Iatrogenic Dyskinesias

Back 89

Dopamine agonist-induced chorea

Front 90

inappropriate cocontraction of antagonistic muscles, re-
sulting in repetitive twisting movements.

Back 90

Dystonia

Hint 90

Focal dystonias treated with
botulinum toxin injection: generalized with trihexiphenidyl (Ar-
tane)

Front 91

random twitching or jerking, excessive, involuntary, pur-
poseless movements

Back 91

Chorea

Front 92

oromandibular dystonia

Back 92

Blepharospasm
(Meige syndrome)

Front 93

most frequent focal dystonia, involving neck
muscles. Intermittent or sustained head deviation

Back 93

Spasmodic torticollis

Front 94

distal upper extremity, postural or action tremor; is of-
ten progressive. May be familial (autosomal dominant with variable
penetrance)

Back 94

Tremor (Essential)

Hint 94

Treatment includes propranolol, primidone, topira-
mate. Alcohol responsive

Front 95

Rapid jerking movement

Back 95

Myoclonus

Hint 95

treat primary cause when known. Clonazepam, 5-hydroxytryptophan (5-HTP) and valproic acid often used

Front 96

Sudden loss of postural tone
Classically described as a “flap.” Patient has arms outstretched, palms out, but cannot keep hands still.

Back 96

Asterixis
Occurs in metabolic encephalopathies
(uremic, hepatic), drug intoxications, and structural brain lesions.

Front 97

Symptoms
Memory loss, language and visuospatial impairments, mood distur-
bance, delusions, hallucinations, changes in personality and behav-
ior. Generalized seizures (10–20%).

Back 97

Alzheimer’s Disease

Description
A progressive dementia (global cognitive decline) of middle and late life.

Diagnosis
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.

Pathology
Senile plaques (dystrophic neurites surrounding an amyloid core)
and neurofibrillary tangles are prominent, associated with cerebral atrophy and ventricular dilatation.

Hint 97

Treatment Steps
Symptoms such as agitation and depression are treatable. Acetyl-
cholinesterase inhibitors (tacrine, donepezil, rivastigmine,
galantamine). Newer medications include memantine (Namenda).

Front 98

Symptoms
Prominent, early personality change, apathy, abulia, disordered speech, aphasia.

Back 98

Pick’s Disease

Description
Dementia with lobar atrophy.

Diagnosis
Occasionally familial. CT/MRI—prominent symmetric/asymmetric
frontotemporal atrophy

Pathology
Frontotemporal lobar atrophy. Argyrophilic neuronal (Pick) inclu-
sion bodies in frontal and temporal lobes. Frontal and temporal at-
rophy sparing superior temporal gyrus.

Hint 98

Treatment Steps
Supportive treatment for dementia.

Front 99

Symptoms
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

Diagnosis
Progressive intellectual decline. Associated stroke risk factors and
multiple infarctions, ventricular dilatation. Multifocal decreases in
cerebral blood flow on PET/SPECT.

Back 99

Multi-infarct Dementia

Description
Episodic neurologic dysfunction secondary to infarcts of the cere-
bral hemispheres leading to dementia.
1)=subcortical 2)=cortical

Hint 99

Treatment Steps
1. Aspirin, ticlopidine, clopidogrel.
2. Treat hypertension.

Front 100

Symptoms
Urinary incontinence, dementia, gait disturbance (slow, short steps;
unstable).

Diagnosis
Normal CSF pressure. Enlarged cerebral ventricles, relatively normal
cortical gyri on CT/MRI. Subependymal CSF resorption on MRI.

Back 100

Hydrocephalus (Normal Pressure)

Description
Progressive dementia usually occurring in the elderly

Pathology
Increased resistance to arachnoid villus absorption of CSF. Associ-
ated with subarachnoid hemorrhage, trauma, tumor, infection.

Hint 100

Treatment Steps
Ventriculoperitoneal shunt. Significant improvement w/ CSF removal.

Front 101

Symptoms
Subacute progressive dementia, myoclonus.

Diagnosis
Clinical, EEG high-voltage, triphasic periodic complexes on depressed background.

Back 101

Creutzfeldt–Jakob Disease

Description
Progressive dementia, due to abnormal isoform of prion protein
(PrPSc). Disease may be infectious, inherited, or sporadic.

Pathology
Spongiform change (vacuolar dilatation of neurons), amyloid
plaques, loss of neurons, and gliosis.

Hint 101

Treatment Steps
None.

Front 102

Symptoms
Ptosis, miosis, anhidrosis, enophthalmos, narrowing palpebral fis-
sure, flushing on affected side of face

Back 102

Horner Syndrome

Pathology
Interruption of the unilateral sympathetic system due to trauma,
lung apex tumor, CNS lesions, vascular headache.

Diagnosis
Cocaine and para-OH-amphetamine tests

Front 103

Symptoms
Unilaterally dilated pupil with slow response to light and accommo-
dation; areflexia may be present.

Back 103

Adie’s Pupil

Pathology
Postganglionic parasympathetic lesion.

Diagnosis
Weak pilocarpine solution results in Adie’s pupil contraction

Front 104

Symptoms
Very small pupils that fail to constrict to light with accommodation
preserved. One or both eyes affected

Back 104

Argyll–Robertson Pupil

Diagnosis
Argyll–Robertson pupil is a sign of neurosyphilis. Rule out CNS structural lesions

Front 105

Symptoms
Pupils fixed and dilated, ophthalmoplegia and contralateral hemi-
paresis

Back 105

Uncal Herniation Syndrome

Front 106

Symptoms
Defective direct light reflex with intact consensual reflex on “swing-
ing flashlight test.”

Back 106

Marcus Gunn Pupil

Front 107

Symptoms
Eye “down and out.”

Back 107

Third Cranial Nerve Lesion
Affects medial rectus, superior rectus, inferior rectus, inferior
oblique, and levator of eyelid.

Front 108

Symptoms
vertical diplopia.

Back 108

Fourth Cranial Nerve Lesion
Superior oblique muscle affected;

Front 109

Symptoms
Weak lateral rectus, poor abduction

Back 109

Sixth Cranial Nerve Lesion

Front 110

Unreactive, Midposition Pupil
(lesion localization)

Back 110

Midbrain lesion

Front 111

Pinpoint Pupils

Back 111

Pontine lesion

Front 112

Unilaterally Dilated and Unreactive Pupil

Back 112

Possible third nerve lesion

Front 113

—Daytime sleep attacks accompanied by cataplexy,
hypnogogic hallucinations, and sleep paralysis. Rapid onset REM
sleep.

Back 113

Narcolepsy

Hint 113

Treat with amphetamine, pemoline, methylphenidate,
dextroamphetamine. Clomipramine for cataplexy.

Front 114

—Arousal from NREM sleep

Back 114

Night Terror

Front 115

—Awakening from REM sleep

Back 115

Nightmare

Front 116

Gliomas type
most common of all gliomas, and most common
brain tumor in childhood

Back 116

Astrocytoma

Front 117

Gliomas type
usually frontal lobe, slow growing, presents
with headache, seizures, and the tumor may bleed.

Back 117

Oligodendroglioma

Front 118

most common posterior fossa tumor in chil-
dren. Fast growing, radiosensitive

Back 118

Medulloblastoma

Front 119

Gliomas type
Infratentorial more
than supratentorial and filum terminale

Back 119

Ependymoma
ependymal surface location

Front 120

CNS neoplasm type
Usually benign, associated with type 2 neurofibromatosis

Back 120

Meningiomas

Front 121

CNS neoplasm type
Suprasellar, visual field defects often (bitemporal hemianopsia), en-
docrinopathies, diabetes insipidus.

Back 121

Craniopharyngiomas

Front 122

CNS neoplasm type
Endocrine and visual symp-
toms

Back 122

Pituitary Tumors
Secretory in 75%, nonsecretory in 25%

Front 123

CNS neoplasm type
Unilateral hearing loss, tinnitus

Back 123

Acoustic Schwannoma
May compress cranial nerves V, VII,and brain stem. Bilateral in neurofibromatosis type 2

Front 124

Symptoms
Lucid interval after brief unconsciousness followed by increasing
obtundation. Sometimes no lucid interval present. Extreme
headache, contralateral hemiparesis

Back 124

Epidural Hematoma

Diagnosis
History and physical, CT scan.

Hint 124

Treatment Steps
1. Neurosurgical evaluation for possible drainage.
2. Empiric anticonvulsants.
3. May use mannitol to control intracranial pressure/swelling

Front 125

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.

Back 125

Subdural Hematoma

Front 126

Symptoms
Sudden-onset severe headache, may have sentinel bleed with minor
symptoms. May have stiff neck, photophobia, nausea, and focal signs

Back 126

Subarachnoid Hemorrhage

Hint 126

Treatment Steps
1. Supportive care.
2. Bed rest, analgesics.
3. Prophylactic anticonvulsants.
4. Carefully control blood pressure.

Front 127

Symptoms
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.

Back 127

Neuroleptic Malignant Syndrome (NMS)

Hint 127

Treatment Steps
1. Withdraw neuroleptics.
2. Bromocriptine or dantrolene.
3. Supportive care.

Front 128

Symptoms
Acute respiratory failure in a patient with myasthenia gravis.

Back 128

Myasthenic Crisis

Hint 128

Treatment Steps
1. Discontinue cholinesterase (ChE) inhibitors.
2. Ventilate patient in intensive care unit (ICU).
3. Slowly reintroduce ChE inhibitors.

Front 129

Symptoms
Depression of level of consciousness with myoclonus, asterixis,
tremor, seizures. EEG abnormal; may have triphasic waves.

Back 129

Uremic Encephalopathy

Hint 129

Treat renal disease.

Front 130

Symptoms
Confusion, lethargy, headache, seizures. The more rapid the sodium drop, the more severe the symptoms.

Back 130

Hyponatremia

Hint 130

Syndrome of inappropriate an-
tidiuretic hormone (SIADH): treat with water restriction; demeclocycline if chronic.

Front 131

Symptoms
Abdominal pain, vomiting, constipation or diarrhea, confusion, seizures, neuropathy.

Diagnosis
Watson–Schwartz test for elevated aminolevulinic acid

Back 131

Acute Intermittent Porphyria

Pathology
Deficiency of porphobilinogen deaminase

Hint 131

Treatment Steps
1. Hematin and high-carbohydrate diet.
2. Carbamazepine for seizures.

Front 132

Symptoms
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.

Back 132

Lead Toxicity

Diagnosis
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.

Pathology
Neuropathy from segmental demyelination.

Hint 132

Treatment Steps
Chelation with Ca-EDTA or penicillamine.

Front 133

Symptoms
Asterixis, slow EEG, depressed mental status, elevated blood ammo-
nia.

Back 133

Liver Disease—Hepatic Encephalopathy

Hint 133

Give protein-free diet, neomycin, or lactulose.

Front 134

Symptoms
Nausea, vomiting, abdominal pain, renal failure, neuropathy, encephalopathy.

Diagnosis
History, exam, Mees’ lines (transverse lines in nails).

Back 134

Arsenic Toxicity

Hint 134

Treatment Steps
Use dimercaprol (BAL) or penicillamine.

Front 135

—Wernicke’s encephalopathy, nystagmus,
ataxia, confusion, amnesia

Back 135

Thiamine (B1) deficiency

Front 136

—Pernicious anemia, megaloblastic ane-
mia, subacute combined spinal cord degeneration

Back 136

Cobalamin (B12) deficiency

Front 137

—Excess can produce sensory neuropathy

Back 137

Pyridoxine (B6)

Front 138

Symptoms
Tinnitus, hearing loss, delirium, coma, seizures

Back 138

Salicylate Toxicity

Diagnosis
History, respiratory alkalosis, serum salicylate level, rapid screen: ferric chloride test

Hint 138

Treatment Steps
1. Treat shock.
2. Protect airway.
3. Routine drug intoxication measures.

Front 139

Symptoms
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

Back 139

Reye’s Syndrome

Front 140

Symptoms
Type I—visceromegaly. Type II/III—gaze palsies, trismus, spasticity,
dementia, seizures, and visceromegaly.

Back 140

Gaucher’s Disease

Description
Glucocerebroside lipidosis.

Diagnosis
Clinical. Bone marrow may contain Gaucher cells (lipid-laden
macrophages). Enzymatic analysis.

Pathology
Deficiency of lysosomal glucocerebrosidase. Autosomal recessive.

Front 141

Symptoms
Polyneuropathy with neuralgia, cerebrovascular disease in middle
age, vasculopathy with renal and cardiac disease, cutaneous angio-
keratoma and telangectasias.

Back 141

Fabry’s Disease

Description
Sphingolipidosis. Inborn error of metabolism.

Diagnosis
Clinical exam. Enzymatic analysis.

Pathology
Deficiency of lysosomal α-galactosidase A. Sex-linked recessive. Gly-
cosphingolipid deposition in tissues (eyes, kidney, heart, CNS).

Hint 141

Treatment Steps
Carbamazepine, phenytoin for pain. Renal transplantation.

Front 142

Symptoms
Progressive dementia and visual impairment, irritability, muscle
weakness, spasticity, seizures.

Diagnosis
Cherry-red spot in the fovea. Abnormal electroretinogram (ERG) and visual evoked potential (VEP).

Back 142

Tay–Sachs Disease

Description
Infantile cerebromacular degeneration caused by mutations of
α-subunit of the lysosomal β-hexosaminidase A gene.

Pathology
Accumulation of gangliosides in retina and CNS neurons. Autosomal recessive

Front 143

Symptoms
Pain, fatigue, and stiffness on exertion.

Diagnosis
Forearm exercise test—low/absent lactate production. Elevated
muscle glycogen on biopsy.

Back 143

McArdle’s Disease

Description
A glycogen-storage disorder due to a mutation in the myophosphorylase gene.

Pathology
Deficient muscle phosphorylase

Hint 143

Treatment Steps
Glucose and reduce exercise.

Front 144

Progressive weakness,
hypotonia, heart failure

Back 144

Pompe’s Disease
Acid α-glycosidase (acid maltase) deficiency

Front 145

Episodic Muscle Weakness
, low potassium

Back 145

Episodic Muscle Weakness
Familial hypokalemic periodic paralysis—autosomal dominant,due to mutation of DHP-sensitive calcium channel

Front 146

Episodic Muscle Weakness,
elevated potassium.

Back 146

Familial hyperkalemic periodic paralysis—autosomal dominant
(mutation of the human muscle sodium channel), shorter weakness attacks

Front 147

Obesity, mental retardation, retinitis pigmentosa, hypogonadism,
polydactyly, diabetes insipidus, autosomal recessive

Back 147

Laurence–Moon–Biedl Syndrome
looney,moon,blind

Front 148

Multisystem atrophy with orthostatic hypotension and CNS degeneration (parkinsonism; cerebellar, pyramidal features)

Back 148

Shy–Drager Syndrome
Neuronal loss intermediolateral cell column

Front 149

Most common spinocerebellar degeneration onset childhood. Mutation in GAA repeat frataxin (X25) gene

Back 149

Friedreich’s Ataxia

Front 150

Demyelinating polyneuropathy, slowly progressive, peroneal muscle
atrophy
Mutation in peripheral myelin protein-22 gene.

Back 150

Charcot–Marie–Tooth Disease

Front 151

Café au lait spots (more than six of 1.5-cm size), neurofibromas, schwannomas, optic nerve gliomas,
Lisch nodules iris.

Back 151

Neurofibromatosis 1
mutation in NF-1 neurofibromin gene

Front 152

Bilateral vestibular schwannomas, menin-
giomas, astrocytomas, posterior lens opacities

Back 152

Neurofibromatosis 2
mutation in NF-2
(MERLIN protein) gene.

Front 153

mental retardation, epilepsy, cutaneous facial
lesions, and organ hamartomas
Autosomal dominant

Back 153

Tuberous Sclerosis

Front 154

Autosomal disorder with retinal and cerebral hemangioblastomas;
renal, pancreatic, and epididymal cysts; and renal carcinomas

Back 154

von Hippel–Lindau Disease

Front 155

Progressive cerebellar ataxia (Purkinje cell degeneration), oculocu-
taneous telangiectasia, radiosensitivity, immunodeficiency and lym-
phoid malignancies.

Back 155

Ataxia–Telangiectasia
Due to mutated ATM gene with phosphoinositol-3′kinase activity

Front 156

Description
Static encephalopathy with abnormal motor function from birth.
Antepartum events cause 90%; also associated with prematurity and
low birth weight.

Back 156

Cerebral Palsy

Diagnosis
History and physical examination, skull x-ray, CT/MRI of the head,
EEG, and psychological testing, evaluation of developmental mile-
stones.

Pathology
Includes periventricular leukomalacia, periventricular/intraventric-
ular hemorrhages, infarction

Hint 156

Treatment Steps
1. Multidisciplinary support.
2. Orthopedic intervention.
3. Physical/occupational therapy.
4. Control seizures.
5. Social services.

Front 157

Cerebral Palsy
associated with prematurity. Either periventricular
leukomalacia or periventricular hemorrhage (greater involvement of intellectual function)

Back 157

Spastic diplegia

Front 158

Cerebral Palsy
associated with congenital malformations & intrauterine infections. Severe disability associated with mental retardation and seizures (Lennox–Gastaut syndrome)

Back 158

Spastic quadriplegia

Front 159

Cerebral Palsy
caused by developmental malformations, stroke, trauma. Seizures associated

Back 159

Spastic hemiplegia

Front 160

Cerebral Palsy
bilirubin encephalopathy (rare) and causes of spastic
quadriplegia

Back 160

Athetosis

Front 161

Symptoms
short seizure without focal features

Description
Seizure in child age 3 months to 5 years, associated with fever/infection

Back 161

Febrile Seizures

Diagnosis
History and physical exam; rule out meningitis, septicemia. Hospital
admission, including routine lab, lumbar tap.

Pathology
Unknown.

Hint 161

Treatment Steps
1. Temperature reduction (tub bath, acetaminophen [Tylenol]).
2. Medication (diazepam [Valium] 0.2 mg/kg rectally or IV).

Front 162

Symptoms
Asymptomatic, or may demonstrate pain, red eye, and vision loss.
May note halos around lights.

Back 162

Glaucoma

Description
Ophthalmic disorder of elevated intraocular pressure, which is etiology of 10% of blindness in the United States.

Diagnosis
On exam, elevated intraocular pressure (over 22 mm Hg by Schiøtz’
tonometry)

Pathology
Types include primary angle-closure, open-angle, secondary, and
congenital. May be of sudden obstructive (primary angle-closure) etiology, or chronic obstruction (open-angle).

Front 163

eye pain, vomiting, vision
loss, sudden onset

Back 163

Primary angle-closure GLAUCOMA

Hint 163

Treatment Steps
Primary Angle-Closure—Surgical iridectomy, with acetazo-
lamide (Diamox) and β-blockers preop.

Front 164

vision field defects, disc
cupping, no pain!

Back 164

Primary open-angle GLAUCOMA

Hint 164

Treatment Steps
Primary Open-Angle—Treatment includes topical (eyedrops):
• β-Blockers––Timoptic (timolol).
• Carbonic anhydrase inhibitors––Trusopt(clorzolamide), Diamox
(acetazolamide).

Front 165

Symptoms
Narrowed visual field; larger blind spot, vision may be normal or im-
paired.

Diagnosis
Fundoscopic exam (disc swollen, associated hemorrhages/exu-
dates).

Back 165

Papilledema

Description
Elevation/swelling of optic nerve head.Papilledema may cause optic atrophy.

Pathology
Secondary to elevated CSF pressure, and a result of infection, optic
neuritis, metabolic disease, CNS lesions.

Hint 165

Treatment Steps
Treat primary cause.

Front 166

Symptoms/Diagnosis
Progressive painless visual loss, or asymptomatic. Diagnose via oph-
thalmoscopic examination.

Description
Lens opacity (nuclear, cortical, and subcapsular).

Back 166

Cataract

Pathology
Age related; ultraviolet light exposure association, and may also relate to trauma, corticosteroids, and diabetes.

Hint 166

Treatment Steps
Cataract removal and intraocular lens implantation.

Front 167

light flashes in eye

Back 167

Retinal detachment
retinal degeneration or
trauma induced

Front 168

Constricted pupil differential

Back 168

iritis, drugs, Horner’s

Front 169

Dilated pupil differential

Back 169

Adie’s, glaucoma, drugs, third nerve lesion.

Front 170

thickened conjunctiva

Back 170

Pinguecula

Front 171

thickened conjunctiva encroaching on cornea

Back 171

Pterygium

Front 172

small pupil, ciliary injection

Back 172

Iritis

Hint 172

treat with cycloplegics and
steroids

Front 173

large pupil, diffuse injection

Back 173

glaucoma

Hint 173

treat with pilocarpine, acetazolamide [Diamox], etc.

Front 174

eye anterior chamber blood

Back 174

Hyphema—trauma induced

Front 175

blocked meibomian gland duct

Back 175

Chalazion

Front 176

Sudden vision loss

Back 176

rule out artery (secondary to emboli, retina
white) or vein occlusion.