
Color Atlas of Neurology
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Appendix |
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Table 71 Metabolic myopathies (p. 340) (continued) |
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Myopathy/Gene Locus |
Defect/Inheritance |
Features |
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Mitochondria |
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! |
CPEO3 |
! mtDNA deletion in ca. 50% of |
! |
Ptosis, external ophthalmople- |
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cases |
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gia, tapetoretinal degenera- |
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tion, cardiac arrhythmias, pro- |
! |
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ximal myopathy |
KSS4 |
! |
mtDNA deletion/ |
! Onset before 13th year of life, |
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! |
duplication |
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ataxia, hearing impairment, |
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CSF protein, endocrine distur- |
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bances, otherwise identical to |
! |
MERRF5 |
! |
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! |
CPEO |
mtDNA point mutation |
Myoclonus, ataxia, seizures |
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! |
MELAS6 |
! |
mtDNA point mutation |
! |
Episodic vomiting, focal |
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seizures, dwarfism, proximal |
! |
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muscle weakness |
LHON7 |
! |
mtDNA point mutation |
! Acute/subacute bilateral loss of |
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! |
MILS8 |
! |
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! |
vision, eye pain |
mtDNA point mutation9 |
Developmental delay, ataxia, |
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dystonia, visual disturbances, |
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respiratory disturbances10 |
1 Adult type. 2 Carnitine palmitoyl transferase; defect located on outer mitochondrial membrane in type I, and on inner membrane in type II. 3 Chronic progressive external ophthalmoplegia. 4 Kearns–Sayre syndrome; cardiac pacemaker implantation may be necessary in patients with cardiac arrhythmias. 5 Myoclonus epilepsy with ragged red fibers. 6 Myopathy, encephalopathy, lactic acidosis, and “strokelike episodes”. 7 Hereditary hepaticoptic neuropathy. 8 Maternally inherited Leigh syndrome. 9 Autosomal recessive and sporadic forms are also found. 10 T2-weighted MRI reveals bilateral symmetric lesions (brain stem, periaqueductal region, cerebellum, basal ganglia)
Table 72 Drugs that can aggravate myasthenia gravis (p. 342)
Drugs That Can Aggravate Myasthenia Gravis |
Alternatives |
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Antibiotics: tetracyclines, aminoglycosides, polymy- |
Cephalosporins, chloramphenicol |
xins, gyrase inhibitors, penicillins |
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Psychoactive drugs: benzodiazepines, barbiturates, |
Promethazine, thioridazine. Chlordiazepoxide, ma- |
tricyclic antidepressants, chlorpromazine, |
protiline, mianserin or carbamazepine can be used at |
haloperidol, droperidol, lithium |
low doses and with careful monitoring |
Anticonvulsants: phenytoin, ethosuximide, barbitu- |
Carbamazepine |
rates |
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Cardiovascular agents: Quinidine, ajmaline, procain- |
Digitalis, reserpine, methyldopa, tocainide, verapamil |
amide, lidocaine, ganglioplegics, nifedipine, !-block- |
(low-dose) |
ers1 |
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Miscellaneous: ACTH, corticosteroids2, D-penicil- |
Aspirin, gold, indometacin, acetaminophen, di- |
lamine, morphine and derivatives, magnesium, |
clofenac, local/regional anesthesia, spinal anesthesia, |
general anesthesia (muscle relaxants) |
inhalant anesthetics/deeper general anesthesia |
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(Selected drugs from McNamara and Guay, 1997) |
1 Mask symptoms of myasthenia. 2 High starting dose. |
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Appendix
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Appendix
Appendix
Table 73 Myasthenia-related crises (p. 342)
Syndrome |
Symptoms and Signs |
Precipitating Factors |
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Myasthenic crisis |
Restlessness, anxiety, confusion, respira- |
Infectious diseases, surgical interventions, |
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tory weakness, weak cough, dysphagia, |
anesthesia, drugs, psychosocial stress, im- |
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dysarthria, mydriasis, ptosis, tachycardia, |
paired drug uptake (vomiting, diarrhea), |
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pallor |
disease progression, previously unde- |
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tected myasthenia (and previously men- |
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tioned factors) |
Cholinergic crisis |
Restless, anxiety, confusion, respiratory |
Overdosage (relative) of AChE inhibitors; |
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weakness, weak cough, dysphagia, dy- |
acetylcholine poisoning |
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sarthria, miosis, bradycardia, skin redden- |
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ing, muscle fasciculation/spasms, saliva- |
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tion, tenesmus, diarrhea |
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Table 74 Ancillary tests in myasthenia gravis (p. 342)
Test |
Objective |
Interpretation of Results |
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Edrophonium chloride test1 (Ten- |
Increase in muscle strength (with |
Marked improvement (beginning |
silon, Camsilon) |
improvement of ptosis, eye move- |
30 seconds after administration |
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ments, speech, and swallowing) |
and lasting roughly 5 minutes) |
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unequivocal response. Sensitivity |
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for OMG2: ca. 86%, for GMG3: ca. |
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95% |
Electromyography (EMG)4 |
Documentation of impaired neu- |
A decrement of 10% or more is |
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romuscular conduction (decre- |
pathological. Sensitivity of serial |
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ment in amplitude seen with se- |
stimulation in OMG: ca. 34%; in |
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rial stimulation; jitter may be ob- |
GMG: up to 77%. Prior muscle ex- |
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served in single-fiber EMG) |
ercise more pronounced decre- |
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ment. Sensitivity of single-fiber |
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EMG: ca. 92% |
Serum acetylcholine receptor anti- |
Documentation of presence of |
Sensitivity: 50% in OMG, ca. 90% |
body titer |
acetylcholine receptor antibodies |
in GMG. False-positive results may |
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occur in Lambert–Eaton syn- |
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drome, rarely in amyotrophic |
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lateral sclerosis |
Diagnostic imaging5 |
Measurement of thymus |
Thymic enlargement due to thy- |
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moma or hyperplasia |
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(Phillips and Melnick, 1990) |
1 Short-term inhibition of cholinesterase, given intravenously for diagnostic purposes. 2 Ocular myasthenia gravis. 3 Generalized myasthenia gravis. 4 Example: Repeated stimulation of accessory nerve (3/sec for 3 seconds) and recording of activity in trapezius muscle. 5 CT (contrast-enhanced) or MRI (younger patients, better differentiation of thymic hyperplasia).
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Appendix
Table 75 Toxic myopathies (p. 347)
Syndrome |
Substances (selected) |
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Muscle weakness with or without pain; rhabdomyolysis may occur
Alcohol, chloroquine, cimetidine, clofibrate, cocaine, colchicine, ciclosporin, disulfiram, emetine, ergotamine, gemfibrozil, induced hypokalemia (diuretics, licorice), imipramine, isoniazide, lithium, lovastatin, meprobamate, niacin, pentazocine, thyroid hormones, vincristine, zidovudine
Myalgia |
Alcohol, allopurinol, cimetidine, clofibrate, clonidine, |
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dihydroergotamine, ergotamine, methyldopa, suc- |
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cinylcholine, vincristine, zidovudine |
Polymyositis, pseudo-lupus erythematosus |
Bezafibrate, chlorpromazine, cimetidine, clofibrate, |
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D-penicillamine, etofibrate, etofyllin clofibrate, fenofi- |
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brate, gold, hydralazine, isoniazide, L-tryptophan, |
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penicillin, phenytoin, procainamide, tetracyclines, |
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zidovudine |
Myotonia |
Ciclosporin, 20,25-diazocholesterol, diuretics, D-peni- |
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cillamine, fenoterol, pindolol, propranolol |
Local muscle lesions (pain, swelling, local muscular |
Heroin, insulin, meperidine, pentazocine |
atrophy) |
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Appendix
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Appendix
Appendix
Table 76 Neuromuscular paraneoplastic syndromes (pp. 347, 388)
Site of Lesion |
Syndrome |
Symptoms and |
Common |
Lesions/ |
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Manifestation |
Signs |
Tumors |
Antibodies |
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Motor neuron |
Subacute muscular |
Asymmetrical para- |
Small-cell lung |
Motor neurons/ |
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atrophy (hands, |
lysis, muscle atro- |
cancer, lymphoma, |
Anti-Hu1 |
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bulbar muscles) |
phy (p. 304) |
renal cell carci- |
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weeks to months |
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noma |
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Spinal posterior |
Subacute sensory |
Marked sensory |
Small-cell lung |
Spinal ganglia |
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root, ganglion |
neuronopathy |
loss, areflexia, |
cancer, other lung |
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weeks to months |
ataxia, paresthe- |
tumors |
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siae, pain |
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Proximal peripheral |
! |
Acute poly- |
! |
Ascending sen- |
! |
Hodgkin disease |
Segmental demy- |
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nerve |
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radiculopathy |
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sorimotor defi- |
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elination, neuritis |
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! |
hours to days |
! |
cits2 |
! |
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Chronic poly- |
Chronic pro- |
Small-cell lung |
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radiculopathy3 |
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gressive/recur- |
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cancer, lym- |
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weeks to |
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rent sensorimo- |
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phoma, my- |
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months |
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tor deficits |
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eloma |
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Distal peripheral |
! |
Paraproteinemic |
! |
See p. 328 |
! |
Plasmacytoma |
! |
Segmental de- |
nerve |
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polyneuropathy |
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myelination |
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weeks to |
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! |
months |
! |
Distal sym- |
! |
Small-cell lung |
! |
Mainly axonal |
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Sensorimotor |
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polyneuropathy |
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metrical poly- |
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cancer, other |
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lesions |
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weeks to |
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neuropathy |
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cancers |
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months |
! |
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! |
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Neuromyotonia |
Muscle stiff- |
Thymoma, lung |
Distal motor |
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ness, cramps |
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cancer |
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nerve/Anti- |
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VGPC4 |
End-plate region |
! |
Lambert–Eaton |
! |
See p. 342 |
! |
Small-cell lung |
! |
See p. 343/ |
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syndrome |
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cancer; breast, |
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Anti-VGCC anti- |
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weeks to |
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prostate or |
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bodies5 |
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! |
months |
! |
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stomach cancer |
! |
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Myasthenia |
See p. 342 |
Thymoma |
See p. 343/ |
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gravis weeks |
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Skeletal muscle |
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to months |
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antibodies |
Skeletal muscle |
! |
Polymyositis/ |
! |
See p. 344 |
! |
Various cancers |
! |
Myonecrosis, |
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dermatomyosi- |
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(breast, lung or |
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lymphomono- |
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tis months to |
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ovarian cancer, |
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cytic infiltrates |
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! |
years |
! |
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! |
lymphoma) |
! |
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Rhabdomyolysis |
Rapidly progres- |
Various cancers |
Myonecrosis, |
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days to |
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sive paralysis, |
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rare inflam- |
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weeks |
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dysphagia |
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matory infil- |
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trates |
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(Brown, 1998)
1 In small-cell lung cancer. 2 Similar to Guillain–Barré syndrome (p. 326). 3 Similar to CIDP (p. 328). 4 VGPC = voltage-gated potassium channel; EMG shows high-frequency discharges (150–300 Hz). 5 VGCC = voltage-gated calcium channel.
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Appendix |
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Table 77 Laboratory tests (p. 351) |
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Test/Objective |
Risks |
Comments |
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Antiepileptic drugs |
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! |
Verify drug compliance |
! |
Laboratory error |
Time of sample collection is deter- |
! Assess for drug resistance |
! |
Misuse of measured values |
mined by the pharmacokinetics of |
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! Avoid underdosage or over- |
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(the physician should be |
the antiepileptic drug in question |
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! |
dosage |
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guided by the clinical objective |
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Assess for drug interactions |
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of a seizure-free state, rather |
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than by “therapeutic levels”) |
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Lumbar puncture |
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! |
Measure CSF pressure |
! |
Increased intracranial pressure3 |
Suboccipital or lateral cervical |
! Obtain CSF sample for analysis |
! |
Intraspinal mass4 |
puncture is very rarely indicated |
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! |
Intrathecal drug administration |
! |
Postpuncture headache |
(e. g. if a CSF sample is required, |
! |
Diagnosis (contrast agent1, |
! |
Intraspinal hemorrhage |
but cannot be obtained by lumbar |
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radioactive substances2) |
! |
(coagulopathy) |
puncture, or for myelography |
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Meningitis |
above a spinal lesion). Myelogra- |
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! |
Discitis |
phy and MRI have rendered |
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Queckenstedt’s test5 obsolete |
1 For myelography. 2 For scintigraphy. 3 Risk of transtentorial/cerebellar herniation. 4 Risk of acute spinal decompensation with paraplegia. 5 Compression of jugular vein to test for patency of subarachnoid space, which may be blocked, for example, by a spinal tumor.
Appendix
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408
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References
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