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First_Aid_Step2. Colchicine inhibits neutrophil chemotaxis and is most effective when used early during a gout f are (use is limited by a narrow therapeutic window). Most commonly affects the frst MTP joint (podagra) and the midfoot, knees, ankles, and wrists; the hips and shoulders are generally spared. Joints are erythematous, swollen, and exquisitely tender. Tophi (urate crystal deposits in soft tissue) may be seen with chronic disease. Joint ﬂuid aspirate shows needle-shaped, negatively birefringent crystals (see Table 2.9-3 and Clinical Images). An elevated WBC count in the joint aspirate or peripheral blood may be seen during ﬂ ares. Serum uric acid is usually ↑ (≥ 7.5), but patients may have normal levels. Punched-out erosions with overhanging cortical bone (“rat-bite” erosions) are seen in advanced gout. Acute attacks: High-dose NSAIDs (e.g., indomethacin), colchicine, and/ or steroids.


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First_Aid_Step2. Punched-out erosions with overhanging cortical bone (“rat-bite” erosions) are seen in advanced gout. Acute attacks: High-dose NSAIDs (e.g., indomethacin), colchicine, and/ or steroids. Maintenance therapy: Allopurinol for overproducers, those with contraindications to probenecid treatment (tophi, renal stones, chronic renal failure), and refractory cases; probenecid for undersecretors. Weight loss and avoidance of triggers of hyperuricemia will prevent recurrent attacks in many patients. A chronic inﬂammatory disease of the spine and pelvis that causes sacroiliitis leading to fusion of the affected joints. Strongly associated with HLA-B27. Risk factors include male gender and a family history. Typical onset is in the late teens and early 20s. Presents with fatigue, intermittent hip pain, and LBP that worsens with inactivity and in the mornings.


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First_Aid_Step2. Typical onset is in the late teens and early 20s. Presents with fatigue, intermittent hip pain, and LBP that worsens with inactivity and in the mornings. ■↓ spine ﬂ exion ( Schober test), loss of lumbar lordosis, hip pain and stiffness, and ↓ chest expansion are seen as the disease progresses. Anterior uveitis and heart block may occur. Other forms of seronegative spondyloarthropathy must be ruled out, including the following: Reactive arthritis (formerly known as Reiter’s syndrome): A disease of young men. The characteristic arthritis, uveitis, conjunctivitis, and urethritis usually follow an infection with Campylobacter, Shigella, Salmonella, Chlamydia, or Ureaplasma. Psoriatic arthritis: An oligoarthritis that can include the DIP joints. TABLE 2.9-3. Gout vs. Pseudogout Associated with psoriatic skin changes and sausage-shaped digits (dactylitis).


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First_Aid_Step2. Psoriatic arthritis: An oligoarthritis that can include the DIP joints. TABLE 2.9-3. Gout vs. Pseudogout Associated with psoriatic skin changes and sausage-shaped digits (dactylitis). ■Enteropathic spondylitis: An ankylosing spondylitis–like disease characterized by sacroiliitis that is usually asymmetric and is associated with IBD. HLA-B27 is found in 85–95% of cases. Radiographs may show fused sacroiliac joints, squaring of the lumbar vertebrae, development of vertical syndesmophytes, and bamboo spine. ESR or CRP is ↑ in 75% of cases. RF; ANA. NSAIDs (e.g., indomethacin) for pain; exercise to improve posture and breathing. Tumor necrosis factor (TNF) inhibitors or sulfasalazine can be used in refractory cases.


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First_Aid_Step2. RF; ANA. NSAIDs (e.g., indomethacin) for pain; exercise to improve posture and breathing. Tumor necrosis factor (TNF) inhibitors or sulfasalazine can be used in refractory cases. Polymyositis is a progressive, systemic connective tissue disease characterized by immune-mediated striated muscle inﬂ ammation. Dermatomyositis presents with symptoms of polymyositis plus cutaneous involvement, although the pathogenesis is different. Most often affect patients 50–70 years of age; the male-to-female ratio is 1:2. African-Americans are affected more often than Caucasians. Distinguished as follows: Polymyositis: Presents with symmetric, progressive proximal muscle weakness, pain, and difficulty breathing or swallowing (advanced disease).


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First_Aid_Step2. Distinguished as follows: Polymyositis: Presents with symmetric, progressive proximal muscle weakness, pain, and difficulty breathing or swallowing (advanced disease). Dermatomyositis: Patients may have heliotrope rash (a violaceous periorbital rash), “shawl sign” (a rash involving the shoulders, upper chest, and back), and/or Gottron’s papules (a papular rash with scales located on the dorsa of the hands, over bony prominences). Patients may also develop myocarditis and cardiac conduction deficits. Can be associated with an underlying malignancy, especially lung and breast carcinoma. ■↑serum CK and anti-Jo-1 antibodies are seen (see Table 2.9-4). ■Muscle biopsy reveals inﬂammation and muscle fibers in varying stages of necrosis and regeneration. High-dose corticosteroids with taper after 4–6 weeks to ↓ the maintenance dose. Azathioprine and/or methotrexate can be used as steroid-sparing agents. T AB LE 2.9-4. Common Antibodies and Their Disease Associations


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First_Aid_Step2. Azathioprine and/or methotrexate can be used as steroid-sparing agents. T AB LE 2.9-4. Common Antibodies and Their Disease Associations ANA SLE Anti-CCP RA Anticentromere CREST syndrome Anti-dsDNA SLE Antihistone Drug-induced SLE Anti-Jo-1 Polymyositis/dermatomyositis Antimitochondrial Primary biliary cirrhosis Anti-Scl-70 Scleroderma Anti-Sm SLE Anti-TSHR Graves’ disease c-ANCA Vasculitis, especially Wegener’s p-ANCA Vasculitis, microscopic polyangiitis Rheumatoid factor RA U1RNP antibody Mixed connective tissue disease Sjren’s syndrome (keratoconjunctivitis sicca) is a common ocular manifestation of rheumatoid arthritis. Felty’s syndrome is characterized by rheumatoid arthritis, splenomegaly, and neutropenia.


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First_Aid_Step2. Sjren’s syndrome (keratoconjunctivitis sicca) is a common ocular manifestation of rheumatoid arthritis. Felty’s syndrome is characterized by rheumatoid arthritis, splenomegaly, and neutropenia. A systemic autoimmune disorder characterized by chronic, destructive, inﬂammatory arthritis with symmetric involvement of both large and small joints that results in synovial hypertrophy and pannus formation, ultimately leading to erosion of adjacent cartilage, bone, and tendons. Risk factors include female gender, age 35–50, and HLA-DR4. Presents with insidious onset of morning stiffness for > 1 hour along with painful, warm swelling of multiple symmetric joints (wrists, MCP joints, ankles, knees, shoulders, hips, and elbows) for > 6 weeks. Fever, fatigue, malaise, anorexia, and weight loss may also be seen. Ulnar deviation of the fingers is seen with MCP joint hypertrophy (see Figure 2.9-6).


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First_Aid_Step2. Fever, fatigue, malaise, anorexia, and weight loss may also be seen. Ulnar deviation of the fingers is seen with MCP joint hypertrophy (see Figure 2.9-6). Also presents with ligament and tendon deformations (e.g., swan-neck and boutonnière deformities), vasculitis, atlantoaxial subluxation (intubation risk), and keratoconjunctivitis sicca. F IGU R E 2.9-6. Rheumatoid arthritis. Note the boutonnière deformities of the digits, ulnar deviation of the fingers, MCP joint hyper trophy, and severe involvement of the PIP joints. (Reproduced, with permission, from Chan drasoma P. Concise Pathology, 3rd ed. Stamford, CT: Appleton & Lange, 1998: 978.) Labs: ■↑RF (IgM antibodies against Fc IgG) is seen in > 75% of cases. The presence of anti-CCP (cyclic citrullinated peptide) is more spe cific than RF. ■↑ ESR may also be seen. Anemia of chronic disease. Synovial ﬂuid aspirate shows turbid ﬂ uid, ↓ viscosity, and an ↑ WBC count (3000–50,000 cells/μL). Radiographs:


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First_Aid_Step2. Anemia of chronic disease. Synovial ﬂuid aspirate shows turbid ﬂ uid, ↓ viscosity, and an ↑ WBC count (3000–50,000 cells/μL). Radiographs: Early: Soft tissue swelling and juxta-articular demineralization. Late: Joint space narrowing and erosions. NSAIDs (can be reduced or discontinued following successful treatment with disease-modifying antirheumatic drugs [DMARDs]). DMARDs should be started early and include hydroxychloroquine, sulfasalazine, and methotrexate. Second-line agents include TNF inhibitors, rituximab (anti-CD20), and leﬂ unomide. Also called systemic sclerosis; characterized by inﬂammation that leads to progressive tissue fibrosis through excessive deposition of type I and type III collagen. Commonly manifests as CREST syndrome (limited form), but can also occur in a diffuse form involving the skin as well as the GI, GU, renal, pulmonary, and cardiovascular systems. Risk factors include female gender and age 35–50.


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First_Aid_Step2. Exam may reveal symmetric thickening of the skin of face and/or distal extremities. CREST syndrome involves Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias. (lupus cerebritis, Libman-Sacks endocarditis: noninfectious vegetations often seen on the mitral valve in association with SLE and antiphospholipid syndrome. ■The diffuse form can lead to pulmonary f brosis, cor pulmonale, acute renal failure, and malignant hypertension. RF and ANA may be . Anticentromere antibodies are specific for CREST syndrome (see Table 2.9-4). Anti-Scl-70 (antitopoisomerase 1) antibodies are associated with diffuse disease and a poor prognosis (see Table 2.9-4). Eosinophilia may be seen. Corticosteroids for acute ﬂares; penicillamine can be used for skin changes. Calcium channel blockers for Raynaud’s phenomenon. ACEIs for renal disease and prevention of a scleroderma renal crisis.


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First_Aid_Step2. Calcium channel blockers for Raynaud’s phenomenon. ACEIs for renal disease and prevention of a scleroderma renal crisis. Mortality is due to pulmonary hypertension and complications of pulmonary hypertension. A multisystem autoimmune disorder related to antibody-mediated cellular attack and deposition of antigen-antibody complexes. African-American women are at highest risk. Usually affects women of childbearing age. Presents with nonspecific symptoms such as fever, anorexia, weight loss, and symmetric joint pain. The mnemonic DOPAMINE RASH summarizes the criteria for diagnosing SLE (see also Figure 2.9-7 and Clinical Images). Patients with four of the criteria are likely to have SLE (96% sensitive and specific). A ANA is highly sensitive but not specific. Anti-dsDNA and anti-Sm antibodies are highly specific but not as sensitive (see Table 2.9-4). Drug-induced SLE: antihistone antibodies are seen in 100% of cases but are nonspecific.


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First_Aid_Step2. Drug-induced SLE: antihistone antibodies are seen in 100% of cases but are nonspecific. Neonatal SLE: Associated with anti-Ro antibodies transmitted from mother to neonate. The following may also be seen: Antiphospholipid antibodies. Anemia, leukopenia, and/or thrombocytopenia. Proteinuria and/or casts. NSAIDs for mild joint symptoms. Corticosteroids for acute exacerbations. Corticosteroids, hydroxychloroquine, cyclophosphamide, and azathioprine for progressive or refractory cases. F IGU R E 2.9-7. Systemic lupus erythematosus. Erythematous patches and plaques of SLE, predominantly in sun-exposed areas. Note the malar rash across the bridge of the nose. (Reproduced, with permission, from Hurwitz RM. Pathology of the Skin: Atlas of Clinical-Pathological Correlation, 2nd ed. Stamford, CT: Appleton & Lange, 1998: 39.)


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First_Aid_Step2. Also called giant cell arteritis; due to subacute granulomatous inﬂ ammation of the large vessels, including the aorta, external carotid (especially the temporal branch), and vertebral arteries. The most feared manifestation is blindness 2° to occlusion of the central retinal artery (a branch of the internal carotid artery). Risk factors include polymyalgia rheumatica (affects almost half of TA patients), age > 50, and female gender. Presents with new headache (unilateral or bilateral); scalp pain and temporal tenderness; and jaw claudication. Fever, permanent monocular blindness, weight loss, and myalgias/arthralgias (especially of the shoulders and hips) are also seen. ESR > 50 (usually > 100). Ophthalmologic evaluation. Temporal artery biopsy: Look for thrombosis; necrosis of the media; and lymphocytes, plasma cells, and giant cells.


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First_Aid_Step2. ESR > 50 (usually > 100). Ophthalmologic evaluation. Temporal artery biopsy: Look for thrombosis; necrosis of the media; and lymphocytes, plasma cells, and giant cells. High-dose prednisone begun immediately to prevent ocular involvement (or involvement of the remaining eye after onset of monocular blindness). Obtain a biopsy, but do not delay treatment. Conduct a follow-up eye exam. Risk factors include female gender and age > 50. Hx/PE: Presents with pain and stiffness of the shoulder and pelvic girdle musculature with difficulty getting out of a chair or lifting the arms above the head. Other symptoms include fever, malaise, and weight loss. Weakness is generally not appreciated on exam. Dx: Labs reveal a markedly ↑ESR, often associated with anemia. Tx: Low-dose prednisone (10–20 mg/day). Table 2.9-5 outlines the presentation and treatment of common pediatric orthopedic injuries.


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First_Aid_Step2. Dx: Labs reveal a markedly ↑ESR, often associated with anemia. Tx: Low-dose prednisone (10–20 mg/day). Table 2.9-5 outlines the presentation and treatment of common pediatric orthopedic injuries. An X-linked recessive disorder resulting from a deficiency of dystrophin, a cytoskeletal protein. Onset is usually at 3–5 years of age. Affects axial and proximal muscles more than distal muscles. May present with progressive clumsiness, fatigability, difficulty standing or walking, difficulty walking on toes (gastrocnemius shortening), Gowers’ maneuver (using the hands to push off the thighs when rising from the ﬂoor), and waddling gait. Pseudohypertrophy of the gastrocnemius muscles is also seen. Mental retardation is common. Table 2.9-6 outlines the differential diagnosis of DMD and Becker muscular dystrophy. dystrophin immunostain; ↑ CK. EMG shows polyphasic potentials and ↑ recruitment.


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First_Aid_Step2. Table 2.9-6 outlines the differential diagnosis of DMD and Becker muscular dystrophy. dystrophin immunostain; ↑ CK. EMG shows polyphasic potentials and ↑ recruitment. Muscle biopsy shows necrotic muscle fibers from degeneration and variation in fiber size with fibrosis from regeneration. Physical therapy is necessary to maintain ambulation and to prevent contractures. Liberal use of tendon release surgery may prolong ambulation. Mortality is due to pulmonary congestion caused by high-output cardiac failure; cardiac fibrosis → arrhythmias and weak skeletal muscles → cardiopulmonary complications → pneumonia and respiratory failure. T AB LE 2.9-5. Orthopedic Injuries in Children


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First_Aid_Step2. Clavicular fracture The most commonly fractured long bone in children. May be birth related (especially in large infants) and can be associated with brachial nerve palsies. Usually involves the middle third of the clavicle, with the proximal fracture end displaced superiorly owing to the pull of the sternocleidomastoid. Figure-of-eight sling vs. arm sling. Greenstick fracture Incomplete fracture involving the cortex of only one side of the bone. Reduction with casting. Order flms at 10–14 days. Nursemaid’s elbow Radial head subluxation that typically occurs as a result of being pulled or lifted by the hand. Presents with pain and refusal to bend the elbow. Manual reduction by gentle supination of the elbow at 90 degrees of f exion. No immobilization. Torus fracture Buckling of the cortex of a long bone 2° to trauma. Usually occurs in the distal radius or ulna. Cast immobilization for 3–5 weeks. Supracondylar humerus fracture Tends to occur at 5–8 years of age. Proximity to the


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First_Aid_Step2. cortex of a long bone 2° to trauma. Usually occurs in the distal radius or ulna. Cast immobilization for 3–5 weeks. Supracondylar humerus fracture Tends to occur at 5–8 years of age. Proximity to the brachial artery ↑ the risk of Volkmann’s contracture (results from compartment syndrome of the forearm). Cast immobilization; closed reduction with percutaneous pinning if signif cantly displaced. Osgood-Schlatter disease Overuse apophysitis of the tibial tubercle. Causes localized pain, especially with quadriceps contraction, in active young boys. ↓ activity for 2–3 months or until asymptomatic. A neoprene brace may provide symptomatic relief. Salter-Harris fracture Fractures of the growth plate in children. Classifed by fracture location: ■ I: Physis (growth plate). ■ II: Metaphysis and physis. ■ III: Epiphysis and physis. ■ IV: Epiphysis, metaphysis, and physis. ■ V: Crush injury of the physis. Types I and II: Conservative. Types III–V: Surgical repair to prevent complications such as


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First_Aid_Step2. ■ III: Epiphysis and physis. ■ IV: Epiphysis, metaphysis, and physis. ■ V: Crush injury of the physis. Types I and II: Conservative. Types III–V: Surgical repair to prevent complications such as leg length inequality.


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First_Aid_Step2. Developmental Dysplasia of the Hip Also called congenital hip dislocation; can result in subluxed, dislocatable, or dislocated femoral heads, leading to early degenerative joint disease of the hips. Dislocations result from poor development of the acetabulum and hip due to lax musculature and from excessive uterine packing in the ﬂ exed and adducted position (e.g., breech presentation), leading to excessive stretching of the posterior hip capsule and adductor muscle contracture. T AB LE 2.9-6. DMD vs. Becker Muscular Dystrophy Onset 3–5 years. 5–15 years and beyond. Life expectancy Teens. 30s–40s. Mental retardation Common. Uncommon. Western blot Dystrophin is markedly ↓ or absent. Dystrophin levels are normal, but protein is abnormal. Most commonly found in f rst-born females born in the breech position.


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First_Aid_Step2. Most commonly found in f rst-born females born in the breech position. Barlow’s maneuver: Pressure is placed on the inner aspect of the abducted thigh, and the hip is then adducted, leading to an audible “clunk” as the femoral head dislocates posteriorly. Ortolani’s maneuver: The thighs are gently abducted from the midline with anterior pressure on the greater trochanter. A soft click signifies reduction of the femoral head into the acetabulum. Allis’ (Galeazzi’s) sign: The knees are at unequal heights when the hips and knees are ﬂexed (the dislocated side is lower). Asymmetric skin folds and limited abduction of the affected hip are also seen. Early detection is critical to allow for proper hip development. Ultrasound may be helpful, especially after 10 weeks of age. Radiographs are unreliable until patients are > 4 months of age because of the radiolucency of the neonatal femoral head. Begin treatment early.


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First_Aid_Step2. Radiographs are unreliable until patients are > 4 months of age because of the radiolucency of the neonatal femoral head. Begin treatment early. < 6 months: Splint with a Pavlik harness (maintains the hip ﬂ exed and abducted). To prevent AVN, do not ﬂex the hips > 60 degrees. 6–15 months: Spica cast. 15–24 months: Open reduction followed by spica cast. Joint contractures and AVN of the femoral head. Without treatment, a significant defect is likely in patients < 2 years of age. Idiopathic AVN of the femoral head (see Figure 2.9-8). Most commonly found in boys 4–10 years of age. Usually a self-limited disease, with symptoms lasting < 18 months. F IGU R E 2.9-8 Legg-Calvé-Perthes disease. AVN of the femoral head. (Reproduced, with permission, from Skinner HB. Current Diagnosis & Treatment in Orthopedics, 2nd ed. Stamford, CT: Appleton & Lange, 2000: 543.) Generally asymptomatic at first, but patients can develop a painless limp.


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First_Aid_Step2. Generally asymptomatic at first, but patients can develop a painless limp. If pain is present, it can be in the groin or anterior thigh, or it may be referred to the knee. Limited abduction and internal rotation; atrophy of the affected leg. Usually unilateral (85–90%). Observation is sufficient if there is limited femoral head involvement or if full ROM is present. If extensive or if there is ↓ ROM, consider bracing, hip abduction with a Petrie cast, or an osteotomy. The prognosis is good if the patient is < 5 years of age and has full ROM, ↓ femoral head involvement, and a stable joint. Separation of the proximal femoral epiphysis through the growth plate, leading to medial and posterior displacement of the femoral head (relative to the femoral neck). May be due to an imbalance between growth hormone and sex hormones. Risk factors include obesity, age 11–13, male gender, and African-American ethnicity. Associated with hypothyroidism and other endocrinopathies.


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First_Aid_Step2. ■Typically presents with acute or insidious thigh or knee pain and a painful limp. Differential diagnosis of pediatric limp— Acute cases present with restricted ROM and, commonly, inability to bear weight. Bilateral in 40–50% of cases. Characterized by limited internal rotation and abduction of the hip. Flex-ion of the hip results in an obligatory external rotation 2° to physical displacement that is observed as further loss of internal rotation with hip ﬂ ex-ion. Radiographs of both hips in AP and frog-leg lateral views reveal posterior and medial displacement of the femoral head (see Figure 2.9-9). Rule out hypothyroidism with TSH. The disease is progressive, so treatment should begin promptly. No weight bearing should be allowed until the defect is surgically stabilized. Gentle closed reduction is appropriate only in acute slips. F IGU R E 2.9-9. Slipped capital femoral epiphysis.


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First_Aid_Step2. No weight bearing should be allowed until the defect is surgically stabilized. Gentle closed reduction is appropriate only in acute slips. F IGU R E 2.9-9. Slipped capital femoral epiphysis. AP x-ray. The medial displacement of the left femoral epiphysis is best seen with a line drawn up the lateral femoral neck. The abnormal epiphysis does not protrude beyond this line. Frog-leg lateral x-ray. Posterior displacement of the femoral epiphysis is characteristic. (Reproduced, with permission, from Skinner HB. Current Diagnosis & Treatment in Orthopedics, 2nd ed. Stamford, CT: Appleton & Lange, 2000: 546.) Chondrolysis, AVN of the femoral head, and premature hip osteoarthritis leading to hip arthroplasty.


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First_Aid_Step2. Chondrolysis, AVN of the femoral head, and premature hip osteoarthritis leading to hip arthroplasty. A lateral curvature of the spine of > 10 degrees occurring in the thoracic and/or lumbar spine and associated with rotation of the vertebrae and sometimes excessive kyphosis or lordosis. Most commonly idiopathic, developing in early adolescence. Other etiologies are congenital or associated with neuromuscular, vertebral, or spinal cord disease. The male-to-female ratio is 1:7 for curves that progress and require treatment. Idiopathic disease is usually identified during school physical screening. Vertebral and rib rotation deformities are accentuated by a forward bending test. Radiographs of the spine (posterior, anterior, and full-length views). Close observation for < 20 degrees of curvature. Spinal bracing for 20–49 degrees of curvature. Curvature may progress even with bracing. Surgical correction for > 50 degrees of curvature.


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First_Aid_Step2. Close observation for < 20 degrees of curvature. Spinal bracing for 20–49 degrees of curvature. Curvature may progress even with bracing. Surgical correction for > 50 degrees of curvature. Severe scoliosis can create restrictive lung disease. A nonmigratory, nonsuppurative monoand polyarthritis with bony destruction that occurs in patients ≤ 16 years of age and lasts > 6 weeks. Formerly known as juvenile rheumatoid arthritis. Approximately 95% of cases resolve by puberty. More common in girls than in boys. Can be accompanied by fever, nodules, erythematous rashes, pericarditis, and fatigue. Subtypes are as follows: Pauciarticular: An asymmetric arthritis that involves weight-bearing joints. Associated with an ↑ risk of iridocyclitis that leads to blindness if left untreated. Polyarticular: Resembles RA with symmetric involvement of multiple (≥ 5) small joints. Systemic features are less prominent; carries a ↓ risk of iridocyclitis.


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First_Aid_Step2. Polyarticular: Resembles RA with symmetric involvement of multiple (≥ 5) small joints. Systemic features are less prominent; carries a ↓ risk of iridocyclitis. Acute febrile: The least common subtype; manifests as arthritis with daily high, spiking fevers and a maculopapular, evanescent, salmon-colored rash. Hepatosplenomegaly and serositis may also be seen. No iridocyclitis is present; remission may occur within one year. Occurs equally in girls and boys. There is no diagnostic test for JIA. Labs: A RF is found in 15% of cases. ANA may be , especially in the pauciarticular subtype. ■↑ ESR, WBC count, and platelets. Imaging: Soft tissue swelling and osteoporosis may be seen. NSAIDs or corticosteroids; methotrexate is second-line therapy. Disorders of the Neuromuscular Junction 300 MYASTHENIA GRAVIS 300 LAMBERT-EATON MYASTHENIC SYNDROME 301 MULTIPLE SCLEROSIS 301 GUILLAIN-BARRÉ SYNDROME 302 AMYOTROPHIC LATERAL SCLEROSIS 303


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First_Aid_Step2. Disorders of the Neuromuscular Junction 300 MYASTHENIA GRAVIS 300 LAMBERT-EATON MYASTHENIC SYNDROME 301 MULTIPLE SCLEROSIS 301 GUILLAIN-BARRÉ SYNDROME 302 AMYOTROPHIC LATERAL SCLEROSIS 303 Tables 2.10-1 through 2.10-5 and Figure 2.10-1 outline critical aspects of clinical neuroanatomy, including cranial nerve functions; the clinical presentation of common facial nerve lesions; spinal cord anatomy and functions; UMN and LMN signs; and pertinent clinical reﬂ exes. Acute onset of focal neurologic deficits resulting from disruption of cerebral circulation. Many classifications exist, but the most common comparison involves TABLE 2.10-1. Cranial Nerve Functions Stroke is the third most common cause of death and the leading cause of major disability in the United States.


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First_Aid_Step2. Olfactory I Smell Sensory Some Optic II Sight Sensory Say Oculomotor III Eye movement, pupillary constriction, lens accommodation, eyelid opening Motor Marry Trochlear IV Eye movement Motor Money Trigeminal V Mastication, facial sensation (including orbits, sinuses, tongue, teeth, and buccal mucosa), intracranial sensation (including meninges and blood vessels) Both But Abducens VI Eye movement Motor My Facial VII Facial movement, taste from the anterior two-thirds of the tongue, lacrimation, salivation (submandibular and sublingual glands), eyelid closing Both Brother Vestibulocochlear VIII Hearing, balance Sensory Says Glossopharyngeal IX Taste from the posterior third of the tongue, oropharyngeal sensation, swallowing (stylopharyngeus), salivation (parotid gland), monitoring carotid body and sinus chemoand baroreceptors Both Big Vagus X Taste from the epiglottic region, swallowing, palatal elevation, talking, thoracoabdominal viscera, monitoring aortic arch chemoand baroreceptors.


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First_Aid_Step2. and sinus chemoand baroreceptors Both Big Vagus X Taste from the epiglottic region, swallowing, palatal elevation, talking, thoracoabdominal viscera, monitoring aortic arch chemoand baroreceptors. Both Brains Accessory XI Head turning, shoulder shrugging Motor Matter Hypoglossal XII Tongue movement Motor Most Adapted, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 394.


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First_Aid_Step2. TABLE 2.10-2. Facial Nerve Lesions UMN lesion LMN lesion Bell’s palsy Lesion of the motor cortex or the connection between the cortex and the facial nucleus. Contralateral paralysis of the lower face only. Ipsilateral paralysis of the upper and lower face. Complete destruction of the facial nucleus itself or its branchial efferent fbers (facial nerve proper). Peripheral ipsilateral facial paralysis with inability to close the eye on the involved side. Can occur idiopathically; gradual recovery is seen in most cases. Seen as a complication in AIDS, Lyme disease, Sarcoidosis, Tumors, and Diabetes. ALexander Bell with STD: AIDS, Lyme, Sarcoid, Tumors, Diabetes. Adapted, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 397. Upperdivision Lower division Face area of motor cortex Cortico-bulbar tract (UMN lesion = central facial) Facial nucleus LMN lesion CN VII (LMN lesion = Bell´s palsy) TABLE 2.10-3.


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First_Aid_Step2. TABLE 2.10-3. ischemic (80%) vs. hemorrhagic (20%). Table 2.10-6 contrasts modifiable and nonmodifiable risk factors associated with stroke. Etiologies are as follows: Atherosclerosis of the extracranial vessels (internal/common carotid, basilar, and vertebral arteries). Lacunar infarcts in regions supplied by perforating vessels (result from hypertension, hypercholesterolemia, or diabetes). Cardiac or aortic emboli: Thromboemboli (AF, ventricular hypokinesis, prosthetic valves, marantic endocarditis), atheroemboli (aortic arch atherosclerosis), infectious emboli (bacterial endocarditis), paradoxical emboli (via patent foramen ovale). Hypercoagulable states: Include those associated with antiphospholipid antibodies, activated protein C resistance, malignancy, and OCPs in the context of smoking. Craniocervical dissection: Trauma, fibromuscular dysplasia (young females), inﬂ ammatory/infectious diseases.


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First_Aid_Step2. Craniocervical dissection: Trauma, fibromuscular dysplasia (young females), inﬂ ammatory/infectious diseases. Lateral corticospinal Movement of contralateral limbs Pyramidal, at the cervicomedullary junction 1° motor cortex Fine touch, vibration, conscious proprioception Arcuate fbers at the medulla Pacini’s and Meissner’s tactile disks, muscle spindles, and Golgi tendon organs Pain, temperature Ventral white commissure at spinal cord level Free nerve endings, pain f bers Dorsal column medial lemniscus Spinothalamic Adapted, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 105. TABLE 2.10-4. UMN vs. LMN Signs


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First_Aid_Step2. Adapted, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 105. TABLE 2.10-4. UMN vs. LMN Signs Pattern of weakness Pyramidal (arm extensors, leg f exors) Variable Tone Spastic (↑); initially f accid (↓) Flaccid (↓) DTRs ↑ (initially ↓ or normal) ↓Miscellaneous signs Babinski’s, other CNS signs Atrophy, fasciculations ■ Other causes: Venous sinus thrombosis, sickle cell anemia, vasculitis (e.g., giant cell arteritis). Symptoms are dependent on the vascular territory affected: Middle cerebral artery (MCA): Aphasia (dominant hemisphere), neglect (nondominant hemisphere), contralateral paresis and sensory loss in the face and arm, gaze preference toward the side of the lesion, homonymous hemianopia. Anterior cerebral artery (ACA): Contralateral paresis and sensory loss in the leg; cognitive or personality changes. Posterior cerebral artery (PCA): Homonymous hemianopia, memory deficits, dyslexia/alexia.


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First_Aid_Step2. Posterior cerebral artery (PCA): Homonymous hemianopia, memory deficits, dyslexia/alexia. Basilar artery: Coma, “locked-in” syndrome, cranial nerve palsies (e.g., diplopia), apnea, visual symptoms, drop attacks, dysphagia, dysarthria, vertigo, “crossed” weakness and sensory loss affecting the ipsilateral face and contralateral body. Lacunar: Pure motor or sensory stroke, dysarthria–clumsy hand syndrome, ataxic hemiparesis. TIA: A transient neurologic deficit that lasts < 24 hours (most last < 1 hour) and is determined to be of ischemic etiology. Many TIAs (~30–50%) are associated with small, asymptomatic strokes on diffusion-weighted MRI. ■Emergent head CT without contrast (see Figure 2.10-2) to differentiate ischemic from hemorrhagic stroke and to identify potential candidates for thrombolytic therapy. TABLE 2.10-5. Clinical Reﬂ exes MCA stroke can cause CHANGes: Contralateral paresis and sensory loss in the face and arm the side of the lesion


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First_Aid_Step2. TABLE 2.10-5. Clinical Reﬂ exes MCA stroke can cause CHANGes: Contralateral paresis and sensory loss in the face and arm the side of the lesion Biceps = C5 nerve root. Triceps = C7 nerve root. Patella = L4 nerve root. Achilles = S1 nerve root. Babinski––dorsifexion of the big toe and fanning of other toes; sign of UMN lesion, but normal refex in the frst year of life. Refexes count up in order. S1, 2 L3, 4 C5, 6 C7, 8 C5, 6 L3, 4 C7, 8 S1, 2 Adapted, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 392. FIGURE 2.10-1. Spinal cord lesions. (Reproduced, with permission, from Le T, Bhushan V et al. First Aid for the USMLE Step 1 2009. New York: McGraw-Hill, 2009: 389.) MRI to identify early ischemic changes (e.g., diffusion-weighted MRI is sensitive for acute stroke). ECG and an echocardiogram if embolic stroke is suspected.


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First_Aid_Step2. MRI to identify early ischemic changes (e.g., diffusion-weighted MRI is sensitive for acute stroke). ECG and an echocardiogram if embolic stroke is suspected. Vascular studies of intracranial and extracranial disease include carotid ultrasound, transcranial Doppler, MRA, and angiography (see Figure 2.10-3). T AB LE 2.1 0-6. Modifiable and Nonmodifiable Risk Factors for Stroke FAME: Family history of MI or stroke Age > 60 Male gender Ethnicity (African-American, Hispanic, Asian) “Live the way a COACH SHoulDD”: CAD Obesity Atrial f brillation Carotid stenosis Hypercholesterolemia Smoking Hypertension Diabetes Drug use (cocaine or IV drugs) F IGU R E 2.1 0-2. CT/MRI findings in ischemic stroke in the right MCA territory.


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First_Aid_Step2. F IGU R E 2.1 0-2. CT/MRI findings in ischemic stroke in the right MCA territory. (A) CT shows low density and effacement of cortical sulci (between arrowheads) and compression of the anterior horn of the lateral ventricle (arrow). (B) T1-weighted MRI shows loss of sulcal markings (between arrowheads) and compression of the anterior horn of the lateral ventricle (arrow). (C) T2-weighted MRI scan shows increased signal intensity (between arrowheads) and ventricular compression (arrow). (Reproduced, with permission, from Aminoff MJ. Clinical Neurology, 3rd ed. Stamford, CT: Appleton & Lange, 1996: 275.) F IGU R E 2.1 0-3. Vascular studies preand postendarterectomy. Contraindications to tPA therapy— Stroke or head trauma within the last three months Anticoagulation with INR > 1.7 or prolonged PTT Low platelet count (< 100,000/mm3) Elevated BP: Systolic > 185 or diastolic BP > 110 Surgery in the past 14 days TIA (mild symptoms or rapid improvement of symptoms)


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First_Aid_Step2. Low platelet count (< 100,000/mm3) Elevated BP: Systolic > 185 or diastolic BP > 110 Surgery in the past 14 days TIA (mild symptoms or rapid improvement of symptoms) GI or urinary bleeding in the past 21 days Seizures present at the onset of stroke (A) Carotid arteriogram showing stenosis of the proximal internal carotid artery. (B) Postop erative arteriogram with restoration of the normal luminal size following endarterectomy. (Reproduced, with permission, from Way LW. Current Surgical Diagnosis & Treatment, 10th ed. Stamford, CT: Appleton & Lange, 1994: 763.) ■Screen for hypercoagulable states with a history of thrombosis, in the setting of a first stroke, or in patients < 50 years of age. ■ Acute:


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First_Aid_Step2. ■ Acute: Ischemic stroke: tPA is indicated if administered within three hours of symptom onset, but first rule out contraindications. Be aware of potential bleeding or angioedema. Intra-arterial thrombolysis can be used for select patients within six hours of major stroke from MCA occlusion if such patients are not suitable candidates for IV tPA. Hemorrhagic stroke: See the discussion of parenchymal hemorrhage. ICU admission should be considered, especially for comatose patients or for those who are unable to protect their airways for possible intubation. Monitor for signs and symptoms of brain swelling, ↑ ICP, and herniation. Serial CTs are helpful in the evaluation of deteriorating patients. As a temporizing measure, treat with mannitol and hyperventilation. ASA is associated with ↓ morbidity and mortality in acute ischemic stroke presenting ≤ 48 hours from onset.


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First_Aid_Step2. ASA is associated with ↓ morbidity and mortality in acute ischemic stroke presenting ≤ 48 hours from onset. Allow permissive hypertension and hypoxemia to maintain perfusion of ischemic cerebral tissue. However, in the setting of severe hypertension (SBP > 220 or DBP >120) or hemorrhagic stroke, treat with IV labetalol or nicardipine infusion. Additionally, to administer tPA, SBP must be < 185 and DBP < 110. Treat fever and hyperglycemia, as both are associated with worse prognoses in the setting of acute stroke. Prevent and treat post-stroke complications such as aspiration pneumonia, UTI, and DVT. Immediate labs to be obtained include CBC with platelets, cardiac enzymes and troponin, electrolytes, BUN, creatinine, serum glucose, PTT, PT, INR, lipid profile, and oxygen saturation. Prevention and long-term treatment: ASA, clopidogrel: If stroke is 2° to small vessel disease or thrombosis, or if anticoagulation is contraindicated.


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First_Aid_Step2. Prevention and long-term treatment: ASA, clopidogrel: If stroke is 2° to small vessel disease or thrombosis, or if anticoagulation is contraindicated. Carotid endarterectomy: If stenosis is > 70% in symptomatic patients or > 60% in asymptomatic patients (contraindicated in 100% occlusion). Anticoagulation: In new AF or hypercoagulable states, the target INR is 2–3. In cases involving a prosthetic valve, the target INR is 3–4 or add an antiplatelet agent. Management of hypertension, hypercholesterolemia, and diabetes (hypertension is the single greatest risk factor for stroke). Etiologies of SAH include trauma, berry aneurysms, AVM, and trauma to the circle of Willis.


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First_Aid_Step2. Etiologies of SAH include trauma, berry aneurysms, AVM, and trauma to the circle of Willis. Aneurysmal SAH presents with an abrupt-onset, intensely painful “thunderclap” headache, often followed by neck stiffness and other signs of meningeal irritation, including photophobia, nausea/vomiting, and meningeal stretch signs. Rapid development of obstructive hydrocephalus or seizures often leads to ↓ arousal or frank coma and death in the absence of neurosurgical intervention. More than one-third of patients will give a history of a “sentinel bleed” days to weeks earlier marked by an abrupt-onset headache, often with nausea/vomiting, or transient diplopia that completely resolved in a matter of minutes to hours. Immediate head CT without contrast (see Figure 2.10-4) to look for blood in the subarachnoid space. Sensitivity is > 95% in those with severe SAH but is much lower in patients with normal mental status.


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First_Aid_Step2. Immediate LP if CT is to look for RBCs, xanthochromia (yellowish CSF due to breakdown of RBCs), ↑ protein (from the RBCs), and ↑ ICP. Note that LP results can be falsely in the first 6–12 hours (because xanthochromia has not yet developed) and after the first 24–28 hours (because xanthochromia has resolved). Four-vessel angiography (or equivalent noninvasive angiography such as CT angiography with 3-D reconstructions) should be performed once SAH is confirmed. Noninvasive angiography is warranted in high-risk cases and in those with high clinical suspicion even if CT and LP are unrevealing. Call neurosurgery. Prevent rebleeding (most likely to occur in the first 48 hours) by maintaining systolic BP < 150 until the aneurysm is clipped or coiled. Prevent vasospasm and associated neurologic deterioration (most likely to occur 5–7 days after SAH) by administering calcium channel blockers (CCBs), IV ﬂuids, and pressors to maintain BP. Give phenytoin for seizure prophylaxis.


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First_Aid_Step2. ■↓ ICP by raising the head of the bed and instituting hyperventilation. Treat hydrocephalus through a lumbar drain or serial LPs. CN III palsy with pupillary involvement is associated with berry aneurysms. Conditions associated with berry aneurysms that can MAKE an SAH more likely: dominant, polycystic) Ehlers-Danlos syndrome Sickle cell anemia Atherosclerosis History (familial) The characteristic “worst headache of my life” of SAH comes on quickly, in contrast to migraine (peak intensity > 30 minutes). F IGU R E 2.1 0-4. Subarachnoid hemorrhage. Mental status changes associated with an expanding epidural hematoma occur within minutes to hours and classically have a lucid interval. With a subdural hematoma, mental status changes can occur within days to weeks. (A) CT scan without contrast reveals blood in the subarachnoid space at the base of the brain (arrows). (B) A normal CT scan without contrast shows no density in this region (arrows).


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First_Aid_Step2. (A) CT scan without contrast reveals blood in the subarachnoid space at the base of the brain (arrows). (B) A normal CT scan without contrast shows no density in this region (arrows). (Reproduced, with permission, from Aminoff MJ. Clinical Neurology, 3rd ed. Stamford, CT: Appleton & Lange, 1996: 78.) ■ Surgical clipping is the defnitive treatment for aneurysms. Endovascular coiling is an option for poor surgical candidates. Risk factors include hypertension, tumor, amyloid angiopathy (in the elderly), anticoagulation, and vascular malformations (AVMs, cavernous hemangiomas). Hx/PE: Presents with focal motor and sensory defcits that often worsen as the hematoma expands. Severe headache of sudden onset, nausea/ vomiting, seizures, lethargy, or obtundation may also be seen. Dx: Immediate noncontrast head CT (see Figure 2.10-5). Look for mass effect or edema that may predict herniation.


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First_Aid_Step2. Dx: Immediate noncontrast head CT (see Figure 2.10-5). Look for mass effect or edema that may predict herniation. Tx: Similar to that of SAH. Elevate the head of the bed and institute anti-seizure prophylaxis. Surgical evacuation may be necessary if mass effect is present. Several types of herniation may occur, including central, uncal, subfalcine, and tonsillar (see Figure 2.10-6 and Table 2.10-7). Typically occurs following head trauma (usually falls or assaults), leading to rupture of bridging veins and accumulation of blood between the dura and arachnoid membranes. Common in the elderly and alcoholics. Hx/PE: Presents with headache, changes in mental status, and contra-lateral hemiparesis. Changes may be subacute or chronic. May present as pseudodementia in the elderly. F IGU R E 2.1 0-5. Intraparenchymal hematoma.


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First_Aid_Step2. F IGU R E 2.1 0-5. Intraparenchymal hematoma. Head CT without contrast reveals the irregularly shaped hyperdensity with midline shift of the choroid plexus. (Reproduced, with permission, from Saunders CE. Current Emergency Diagno sis & Treatment, 4th ed. Stamford, CT: Appleton & Lange, 1992: 248.) Dx: CT demonstrates a crescent-shaped, concave hyperdensity acutely (isodense subacutely, hypodense chronically) that does not cross the mid-line (see Figure 2.10-7A). Tx: Surgical evacuation if symptomatic. Subdural blood may regress spontaneously if it is chronic. 1. 2. 3. Uncal herniation 4. Cerebellar tonsillar herniation into the Tentorium foramen magnum Coma and death result when these herniations compress the brain stem F IGU R E 2.1 0-6. Sites of herniation syndromes. (Adapted, with permission, from Simon RP et al. Clinical Neurology, 4th ed. Stamford, CT: Appleton & Lange, 1999: 314.) TAB LE 2.1 0-7. Clinical Presentation of Herniation Syndromes


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First_Aid_Step2. TAB LE 2.1 0-7. Clinical Presentation of Herniation Syndromes Cingulate herniation Occurs 2° to mass lesions of the frontal lobes. No specifc signs or symptoms; frequently seen on head CT. Downward transtentorial (central) herniation Occurs when large supratentorial mass lesions push the midbrain inferiorly. Presents with a rapid change in mental status; bilaterally small and reactive pupils; Cheyne-Stokes respirations; and fexor or extensor posturing. Uncal herniation Occurs 2° to mass lesions of the middle fossa. CN III becomes entrapped, leading to a fxed and dilated ipsilateral pupil followed by an eye that is deviated “down and out.” Ipsilesional hemiparesis (“false localizing”) results from compression of the cerebral peduncle (opposite the mass lesion) against the tentorial edge. Cerebellar tonsillar herniation into the foramen magnum Occurs 2° to posterior fossa mass lesions. Tonsillar herniation → medullary compression → respiratory arrest. Usually rapidly fatal.


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First_Aid_Step2. Usually a result of a lateral skull fracture leading to a tear of the middle meningeal artery. Hx/PE: Obvious, severe trauma induces an immediate loss of consciousness followed by a lucid interval (minutes to hours). Uncal herniation F IGU R E 2.1 0-7. Subdural vs. epidural hematoma. (A) Subdural hematoma. Note the crescent shape and the mass effect with midline shift. (B) Epidural hematoma with classic biconvex lens shape. (Reproduced, with permission, from Aminoff MJ. Clinical Neurology, 3rd ed. Stamford, CT: Appleton & Lange, 1996: 296.) leads to coma with a “blown pupil” (fixed and dilated ipsilateral pupil) and ultimately ipsilateral hemiparesis. ■Dx: CT shows a lens-shaped, convex hyperdensity limited by the sutures (see Figure 2.10-7B). ■ Tx: Emergent neurosurgical evacuation. May quickly evolve to brain her- niation and death 2° to the arterial source of bleeding. compression. Causes of headache include the following:


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First_Aid_Step2. ■ Tx: Emergent neurosurgical evacuation. May quickly evolve to brain her- niation and death 2° to the arterial source of bleeding. compression. Causes of headache include the following: Acute (new; onset seconds to minutes): New migraine/cluster headache, aneurysmal SAH, acutely ↑ ICP (e.g., colloid cyst, obstructive hydrocephalus), acute ocular disease (e.g., angle-closure glaucoma), cerebral venous thrombosis, cavernous sinus thrombosis, craniocervical dissection, pituitary apoplexy, acute severe hypertension (e.g., pheochromocytoma), angina (rare), ischemic stroke/intraparenchymal hemorrhage (headache is usually not the presenting manifestation).


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First_Aid_Step2. Subacute (new; onset hours to days): New migraine/tension-type headache or viral syndrome vs. meningitis, other cranial infections (acute sinusitis, dental infections, orbital infections, cavernous sinus infections, otitis media/mastoiditis), temporal arteritis, subacutely ↑ ICP (e.g., large tumor, progressive hydrocephalus, altitude sickness, pseudotumor cerebri), sub-acute ocular disease (e.g., keratitis, iritis, scleritis, orbital infection), sub-acute severe hypertension (e.g., hypertensive encephalopathy, eclampsia), intracranial hypotension (e.g., spontaneous, post-LP), subdural hematoma, carbon monoxide, lead poisoning in children (rare), encephalitis. Chronic/episodic: Migraine, cluster headache, tension-type headache, medication overuse headaches (e.g., caffeine withdrawal, “rebound” headaches from NSAID or analgesic overuse), trigeminal or other neuralgias (e.g., glossopharyngeal, postherpetic), TMJ disease, cervical arthritis, chronic sinusitis.


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First_Aid_Step2. Conduct full general and neurologic exams, including a funduscopic exam. Evaluate the following: Chronicity: Recent or recently changed headaches warrant immediate workup if they are not clearly migraines or other 1° headache disorders. Characteristics: Intensity: Severe headaches are more likely to be dangerous, but not all dangerous headaches are severely intense (e.g., temporal arteritis). Location: Posterior headaches are less likely to be benign, especially in children. Duration: Headaches lasting > 72 hours are not migraines. Diurnal variation: Cluster headaches and those from elevated ICP usually occur or worsen at night. Triggers: Examples include chocolate and red wine. Provocative factors: Lying down may make high-ICP headaches worse; standing up may make low-ICP headaches worse. Palliative factors: Sleep clears migraines.


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First_Aid_Step2. Provocative factors: Lying down may make high-ICP headaches worse; standing up may make low-ICP headaches worse. Palliative factors: Sleep clears migraines. Recent-onset headaches warrant immediate workup! If headache is associated with focal neurologic def cits, rule out more serious etiologies with CT or MRI. Rule out SAH with a CT and LP if symptoms are abrupt in onset; then consider other causes typically missed by CT (e.g., dural thrombosis, dissection, or apoplexy). If a 20-year-old female develops headaches after drinking red wine, think migraine.


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First_Aid_Step2. If a 20-year-old female develops headaches after drinking red wine, think migraine. Associated symptoms/signs: Significant findings include fever or rash (consider meningitis or other infectious causes), jaw claudication (specific for temporal arteritis), or constitutional symptoms such as weight loss (associated with neoplastic, inﬂammatory, or infectious conditions). Photophobia, nausea, and vomiting are associated with migraine, aneurysmal SAH, and meningitis, but neck stiffness is more likely to accompany the latter two. Neurologic sequelae: Look for diplopia, mental status changes or associated symptoms (numbness, weakness, dizziness, ataxia, visual disturbances), papilledema, or pupillary abnormalities (partial CN III palsy or Horner’s syndrome). Patient risk factors: High-risk patients are > 50 years of age, immunocompromised, or with preexisting malignancy. If SAH is suspected, obtain a head CT without contrast. If CT is , LP is mandatory. Obtain a CBC.


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First_Aid_Step2. If SAH is suspected, obtain a head CT without contrast. If CT is , LP is mandatory. Obtain a CBC. If temporal arteritis is suspected, obtain ESR. A CT/MRI is needed for suspected SAH, ↑ ICP, or focal neurologic findings. Use CT without contrast to evaluate acute hemorrhage. Affects females more often than males; may be familial. Associated with vascular and brain neurotransmitter (serotonin) changes. Pain is ultimately linked to trigeminal nucleus activation in the brain stem. Auras appear to result from a different pathomechanism (electrical spreading depression in the brain, possibly linked to ion channel dysfunction) and may occur with or without the pain of migraine headache. Onset usually occurs by the early 20s. Triggers include certain foods (e.g., red wine), fasting, stress, menses, OCPs, bright light, and disruptions in normal sleep patterns. Hx/PE:


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First_Aid_Step2. Triggers include certain foods (e.g., red wine), fasting, stress, menses, OCPs, bright light, and disruptions in normal sleep patterns. Hx/PE: Presents with a throbbing headache (> 2 hours but usually < 24 hours, and almost always < 72 hours in duration) that is associated with nausea, vomiting, photophobia, and noise sensitivity. Headache is usually relieved by sleep and darkness. Classic migraines: Often unilateral and preceded by a visual aura in the form of either scintillating scotomas (bright or ﬂashing lights) or visual field cuts. Common migraines: May be bilateral and periorbital without preceding auras. Dx: Based on history. Tx: Avoid known triggers. Abortive therapy includes triptans (first line after OTC NSAIDs have failed), metoclopramide, and various analgesics. Consider symptomatic treatment for nausea.


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First_Aid_Step2. Tx: Avoid known triggers. Abortive therapy includes triptans (first line after OTC NSAIDs have failed), metoclopramide, and various analgesics. Consider symptomatic treatment for nausea. Prophylaxis for frequent or severe migraines includes anticonvulsants (e.g., gabapentin, topiramate), TCAs (e.g., amitriptyline), β-blockers (propranolol), and CCBs. Males are affected more often than females; average age of onset is 25. Hx/PE: Presents as a brief, excruciating, unilateral periorbital headache that lasts 30 minutes to three hours, during which the patient tends to be extremely restless. Attacks tend to occur in clusters, affecting the same part of the head at the same time of day (commonly during sleep) and in a certain season of the year. Associated symptoms include ipsilateral lacrimation of the eye, conjunctival injection, Horner’s syndrome, and nasal stuffiness.


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First_Aid_Step2. Associated symptoms include ipsilateral lacrimation of the eye, conjunctival injection, Horner’s syndrome, and nasal stuffiness. Dx: Classic presentations with a history of repeated attacks over an extended period of time require no evaluation. First episodes require a workup to exclude disorders associated with Horner’s syndrome (e.g., carotid artery dissection or cavernous sinus infection). Tx: Acute therapy: High-ﬂ ow O2 (100% non-rebreather), dihydroergotamine, octreotide, sumatriptan or zolmitriptan. Prophylactic therapy: Transitional (prednisone, ergotamine), maintenance (verapamil, methysergide, lithium, valproic acid, topiramate). Considered by some to be a milder form of migraine headache. More common in females than in males.


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First_Aid_Step2. Considered by some to be a milder form of migraine headache. More common in females than in males. Hx/PE: Presents with tight, bandlike pain that is not associated with sensory phobia, nausea/vomiting, or auras and is brought on by fatigue or stress. Nonspecific symptoms (e.g., anxiety, poor concentration, difficulty sleeping) may also be seen. May be generalized or most intense in the frontal, occipital, and neck regions. Usually occurs at the end of the day. Dx: A diagnosis of exclusion. Be particularly aware of giant cell arteritis in patients > 50 years of age with new headaches; always obtain an ESR even if headaches are mild and unassociated with constitutional or vascular symptoms. There are no focal neurologic signs. Tx: Relaxation, massage, hot baths, and avoidance of exacerbating factors. NSAIDs and acetaminophen are first-line abortive therapy, but trip-tans may also be considered.


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First_Aid_Step2. Tx: Relaxation, massage, hot baths, and avoidance of exacerbating factors. NSAIDs and acetaminophen are first-line abortive therapy, but trip-tans may also be considered. The usual etiology involves a suppurative process of the orbit, nasal sinuses, or central face that leads to septic thrombosis of the cavernous sinus. Non-septic thrombosis is rare; S. aureus is the most common causative agent. The syndrome can also be seen with nonbacterial agents, particularly fungi (Mucor or Aspergillus species). Current antibiotics have greatly ↓ both incidence and mortality. Headache is the most common presenting symptom. Patients may present with orbital pain, edema, diplopia (2° to oculomotor, abducens, or trochlear nerve involvement), or visual disturbances and may describe a recent history of sinusitis or facial infection. On exam, they typically appear ill and have a fever.


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First_Aid_Step2. If a 25-year-old male wakes up repeatedly during the night with unilateral periorbital pain associated with ipsilateral lacrimation, think cluster headache. If a 30-year-old female complains of headaches at the end of the day that worsen with stress and improve with relaxation or massage, think tension-type headache. Tension-type headaches are the most common type of headache diagnosed in adults. Additional signs may include red eye, proptosis, ptosis, or ophthalmoplegia of the affected eye (partial or complete). Diminished pupillary constriction (CN III) and/or dilation (Horner’s) may also be present. Changes in mental status such as confusion, drowsiness, or coma suggest spread to the CNS or sepsis. Late findings include meningismus or systemic signs of sepsis. Lab studies show an ↑ WBC count. Blood cultures reveal the causative agent in up to 50% of cases. CSF exam may reveal ↑ protein consistent with a parameningeal reaction unless there is frank meningitis.


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First_Aid_Step2. Blood cultures reveal the causative agent in up to 50% of cases. CSF exam may reveal ↑ protein consistent with a parameningeal reaction unless there is frank meningitis. MRI (with gadolinium, pituitary protocol) is the principal means of confirming the anatomic diagnosis; MR or CT venography may be important adjuncts. Biopsy of paranasal sinuses or other affected tissue is often necessary in fungal cases for organism identification by histology and culture. Treat aggressively and empirically with a penicillinase-resistant penicillin (nafcillin or oxacillin) plus a thirdor fourth-generation cephalosporin (e.g., ceftriaxone or cefepime) to provide broad-spectrum coverage pending blood culture results. Potential anaerobic infection from sinus or dental sources should be covered with metronidazole. Vancomycin can be added to address potential MRSA involvement. Antifungal therapy is required for fungal cases. IV antibiotics are recommended for at least 3–4 weeks.


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First_Aid_Step2. IV antibiotics are recommended for at least 3–4 weeks. Paroxysmal events associated with aberrant electrical activity in the brain detectable by EEG, leading to changes in neurologic perception or behavior. An aura is experienced by 50–60% of patients with epilepsy. See Table 2.10-8 for common etiologies by age. To further narrow down the etiology of a seizure, assess the following: Determine whether the patient has a history of epilepsy (i.e., a history of unprovoked and recurrent seizures). Other seizures may be self-limited and may resolve once an underlying medical condition has been treated. Elevated serum prolactin levels are consistent with an epileptic seizure in the immediate postictal period. TABLE 2.10-8. Causes of Seizure by Age Group


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First_Aid_Step2. TABLE 2.10-8. Causes of Seizure by Age Group Non-neurologic etiologies include hypoglycemia, hyponatremia, hypocalcemia, hyperosmolar states, hepatic encephalopathy, uremia, porphyria, drug overdose (cocaine, antidepressants, neuroleptics, methylxanthines, lidocaine), drug withdrawal (alcohol and other sedatives), eclampsia, hyperthermia, hypertensive encephalopathy, head trauma, and cerebral hypoperfusion. Seizures with a focal onset (or focal postictal deficit) suggest focal CNS pathology. They may be the presenting sign of a tumor, stroke, AVM, infection, hemorrhage, or developmental abnormality. First seizures that resolve after a single episode are frequently left untreated when the underlying cause is unknown. Arise from a discrete region, or an “epileptogenic focus,” in one cerebral hemisphere and do not lead to loss of consciousness unless they secondarily generalize.


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First_Aid_Step2. Arise from a discrete region, or an “epileptogenic focus,” in one cerebral hemisphere and do not lead to loss of consciousness unless they secondarily generalize. Simple partial seizures: May include motor features (e.g., jacksonian march, or the progressive jerking of successive body regions) as well as sensory, autonomic, or psychic features (e.g., fear, déjà vu, hallucinations) without alteration of consciousness. A postictal focal neurologic deficit (e.g., hemiplegia/hemiparesis, or Todd’s paralysis) is possible and usually resolves within 24 hours. Often confused with acute stroke (ruled out by MRI). Complex partial seizures: Typically involve the temporal lobe (70–80%) with bilateral spread of the aberrant electrical discharge. Characterized by an impaired level of consciousness, auditory or visual hallucinations, déjà vu, automatisms (e.g., lip smacking, chewing, or even walking), and postictal confusion/disorientation and amnesia. Obtain an EEG.


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First_Aid_Step2. Obtain an EEG. Rule out systemic causes with a CBC, electrolytes, calcium, fasting glucose, LFTs, a renal panel, RPR, ESR, and a toxicology screen. A focal seizure implies a focal brain lesion. Rule out a mass by MRI or CT with contrast. Treat the underlying cause. Recurrent partial seizures: Phenytoin, oxcarbazepine, carbamazepine (Tegretol), phenobarbital, and valproic acid can be administered as mono-therapy. In children, phenobarbital is the first-line anticonvulsant. Intractable temporal lobe seizures: Consider anterior temporal lobectomy. Primarily idiopathic. Partial seizures can evolve into secondarily generalized tonic-clonic seizures. If a patient presents wth progressive jerking of successive body regions and hallucinations but without loss of consciousness, think simple partial seizures. If a patient presents with an episode of lip smacking associated with an impaired level of consciousness and followed by confusion, think complex partial seizures.


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First_Aid_Step2. If a patient presents with an episode of lip smacking associated with an impaired level of consciousness and followed by confusion, think complex partial seizures. Both simple partial and complex partial seizures may evolve into 2° generalized tonic-clonic (grand mal) seizures. If a patient presents with clonic movements associated with loss of consciousness and incontinence, think tonicclonic (grand mal) seizures. If a child is brought from school to her pediatrician after experiencing f ve-second episodes of staring into space, think absence (petit mal) seizures. Presents with sudden onset of loss of consciousness with tonic extension of the back and extremities, continuing with 1–2 minutes of repetitive, symmetric clonic movements. Marked by incontinence and tongue biting. Patients may appear cyanotic during the ictal period. Consciousness is slowly regained in the postictal period, but patients are confused and may prefer to sleep; muscle aches and headaches may be present.


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First_Aid_Step2. EEG typically shows 10-Hz activity during the tonic phase and slow waves during the clonic phase. Protect the airway. Treat the underlying cause if known. 1° generalized tonic-clonic seizures: Phenytoin, fosphenytoin, or valproate constitutes first-line therapy. Lamotrigine or topiramate may be used as adjunctive therapy. Secondarily generalized tonic-clonic seizures: Treatment is the same as that for partial seizures. Begin in childhood; subside before adulthood. Often familial. Hx/PE: Present with brief (5to 10-second), often unnoticeable episodes of impaired consciousness occurring up to hundreds of times per day. Patients are amnestic during and immediately after seizures and may appear to be daydreaming or staring. Eye ﬂuttering or lip smacking is common. Dx: EEG shows classic three-per-second spike-and-wave discharges. Tx: Ethosuximide is the first-line agent.


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First_Aid_Step2. Dx: EEG shows classic three-per-second spike-and-wave discharges. Tx: Ethosuximide is the first-line agent. A medical emergency consisting of prolonged (> 10-minute) or repetitive seizures that occur without a return to baseline consciousness. May be either convulsive (the more medically urgent form) or nonconvulsive. Common causes include anticonvulsant withdrawal/noncompliance, anoxic brain injury, EtOH/sedative withdrawal or other drug intoxication, metabolic disturbances (e.g., hyponatremia), head trauma, and infection. Death usually results from the underlying medical condition and may occur in 10% of cases of status epilepticus. Determine the underlying cause with pulse oximetry, CBC, electrolytes, calcium, glucose, ABGs, LFTs, BUN/creatinine, ESR, antiepileptic drug levels, and a toxicology screen. Obtain an EEG and brain imaging, but defer testing until the patient is stabilized. Obtain a stat head CT to evaluate for intracranial hemorrhage.


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First_Aid_Step2. Obtain an EEG and brain imaging, but defer testing until the patient is stabilized. Obtain a stat head CT to evaluate for intracranial hemorrhage. Obtain an LP in the setting of fever or meningeal signs, but only after having done a CT scan to assess the safety of the LP. Maintain ABCs; consider rapid intubation for airway protection. Administer thiamine, glucose, and naloxone to presumptively treat potential etiologies. Give IV benzodiazepine (lorazepam or diazepam) plus a loading dose of fosphenytoin. If seizures continue, intubate and load with phenobarbital. Consider an IV sedative (midazolam or pentobarbital) and initiate continuous EEG monitoring. Initiate a meticulous search for the underlying cause. A form of generalized epilepsy that typically begins within six months of birth. May be idiopathic or 2° to a variety of conditions, including PKU, perinatal infections, hypoxic-ischemic injury, and tuberous sclerosis.


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First_Aid_Step2. Affects males more often than females; associated with a family history. Hx/PE: Presents with tonic, bilateral, symmetric jerks of the head, trunk, and extremities that tend to occur in clusters of 5–10; arrest of psycho-motor development occurs at the age of seizure onset. The majority of patients have mental retardation. Dx: Look for an abnormal interictal EEG characterized by hypsarrhythmia. Tx: Hormonal therapy with ACTH, prednisone, and clonazepam or valproic acid. Medications may treat the spasms but have little impact on patients’ long-term prognosis. Treatment of status epilepticus: First ABCs, Then Begin Giving Naloxone: Fosphenytoin, ABCs, Thiamine, Benzodiazepine, Glucose, Naloxone. If a male infant is brought to the hospital with muscular jerks and an uncle who had the same problem, think infantile spasms (West syndrome).


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First_Aid_Step2. If a male infant is brought to the hospital with muscular jerks and an uncle who had the same problem, think infantile spasms (West syndrome). A common cause of recurrent peripheral vertigo resulting from a dislodged otolith that leads to disturbances in the semicircular canals (95% posterior, 5% horizontal). Hx/PE: Patients with posterior canal BPPV present with transient, episodic vertigo (lasting < 1 minute) and mixed upbeat-torsional nystagmus triggered by changes in head position (classically while turning in bed, getting in/out of bed, or reaching overhead). Some patients complain of nonvertiginous feelings of dizziness or lightheadedness. Nausea and vomiting are uncommon owing to the short-lived stimulus. Dx:


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First_Aid_Step2. Dx: Have the patient turn his or her head 45 degrees right or left and go from a sitting to a supine position while quickly turning the head to the side (Dix-Hallpike maneuver). If vertigo and the typical nystagmus (upbeat and toward the affected shoulder) are reproduced, BPPV is the likely diagnosis. Nystagmus that persists for > 1 minute, gait disturbance, or nausea/ vomiting that is out of proportion to nystagmus should raise concern for a central lesion. Tx: Some 80% of cases can be resolved at the bedside using the modified Epley maneuver (a 270-degree head rotation from the Dix-Hallpike testing position). With BPPV, it’s all in the name: Benign = otolith (not a tumor). Paroxysmal = sudden, temporary episodes lasting < 1 minute. Positional = starts while turning in bed or reaching overhead. Vertigo = vertigo or dizziness is the main symptom.


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First_Aid_Step2. Paroxysmal = sudden, temporary episodes lasting < 1 minute. Positional = starts while turning in bed or reaching overhead. Vertigo = vertigo or dizziness is the main symptom. If you see a 27-year-old male who presents with vertigo and vomiting for one week after having been diagnosed with a viral infection, think acute vestibular neuritis. ■The condition usually subsides spontaneously in weeks to months but often recurs months or years later. Antivertigo medications (e.g., meclizine) are generally contraindicated, as they tend to inhibit central compensation, which may lead to chronic unsteadiness and falls in the elderly. Typically a diagnosis of exclusion once the more serious causes of vertigo (e.g., cerebellar stroke) have been ruled out.


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First_Aid_Step2. Typically a diagnosis of exclusion once the more serious causes of vertigo (e.g., cerebellar stroke) have been ruled out. Hx/PE: Presents with acute onset of severe vertigo, head-motion intolerance, and gait unsteadiness accompanied by nausea, vomiting, and nystagmus. Auditory or aural symptoms (“labyrinthitis”) may include unilateral tinnitus, ear fullness, or hearing loss. Without auditory or aural symptoms (more common), the condition is known as “vestibular neuritis.” Dx: Acute peripheral vestibulopathy demonstrates the following: An abnormal vestibulo-ocular reﬂex (VOR) as determined by a bedside head impulse test (i.e., rapid head rotation from lateral to center while staring at the examiner’s nose). A predominantly horizontal nystagmus that always beats in one direction, opposite the lesion. No vertical eye misalignment by alternate cover testing.


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First_Aid_Step2. A predominantly horizontal nystagmus that always beats in one direction, opposite the lesion. No vertical eye misalignment by alternate cover testing. If patients are “high risk” (i.e., if they have atypical eye findings or any neurologic symptoms or signs, cannot stand independently, have head or neck pain, are > 50 years of age, or have one or more stroke risk factors), they should be imaged by MRI with diffusion-weighted imaging. For low-risk patients, consider caloric testing as ancillary support for the diagnosis. Labyrinthitis (with auditory symptoms) is mimicked by lateral pontine/ cerebellar stroke (AICA arterial territory). Vestibular neuritis (without auditory symptoms) is mimicked by lateral medullary/cerebellar stroke (PICA arterial territory).


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First_Aid_Step2. Tx: Acute treatment consists of corticosteroids given < 72 hours after symptom onset and vestibular sedatives (e.g., meclizine). The condition usually subsides spontaneously within weeks to months. Once the hyperacute stage has passed, cautious engagement in normal physical activities and exercise should be encouraged. A cause of recurrent vertigo with auditory symptoms that affects at least 1 in 500 in the United States. More common among females. Hx/PE: Presents with recurrent episodes of severe vertigo, hearing loss, tinnitus, or ear fullness, often lasting hours to days. Nausea and vomiting are typical. Patients progressively lose low-frequency hearing over years and may become deaf on the affected side.


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First_Aid_Step2. Dx: Diagnosis is made clinically and is based on a thorough history and physical exam. Two episodes (lasting 20 minutes or more) with remission of symptoms between episodes, hearing loss documented at least once with audiometry, and tinnitus or aural fullness are needed to make the diagnosis once other causes (e.g., TIA, otosyphilis) have been ruled out. A brain MRI with vascular imaging (e.g., MRA) may help assess potential intracranial pathology, particularly cerebrovascular disease. ■ Tx: Classically, a low-sodium diet and diuretic therapy were first-line treatments. As theories of pathogenesis have shifted, many clinicians have begun to treat patients with “migraine” diets, other lifestyle changes, prophylactic antimigraine medications, and occasionally benzodiazepines or antiemetics. For severe unilateral cases, ablative therapies (e.g., intratympanic gentamicin to damage the labyrinth, vestibular nerve section) have been used with some success.


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First_Aid_Step2. A cause of recurrent vertigo (usually without auditory symptoms) that affects roughly 10% of migraine sufferers. More common among females. Its pathogenesis may be related to intermittent electrical (ion channel) dysfunction in the cerebellum. Hx/PE: Presents with recurrent episodes of mild dizziness to severe vertigo lasting minutes to days. Nausea, vomiting, and photophobia are common; headaches are variably present and may be mild or severe. Patients are left with no substantial deficits in between spells, although balance may deteriorate over decades. Dx: The diagnosis is usually made clinically on the basis of a thorough history and physical exam to exclude other causes.


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First_Aid_Step2. Dx: The diagnosis is usually made clinically on the basis of a thorough history and physical exam to exclude other causes. Patients who would otherwise qualify for a diagnosis of Ménière’s save the absence of auditory symptoms and documented hearing loss are likely to have vestibular migraine. A history of photoor phonophobia during the episode, particularly if dizziness is associated with headache, is highly suggestive in such patients. The diagnosis is one of exclusion, and care should be taken to ensure that patients do not have intermittent dizziness due to TIA. In patients < 50 years of age, a history of recent trauma or of severe, abrupt-onset, or persistent pain (> 72 hours) should raise concern for vertebral artery dissection with TIAs. A brain MRI with vascular imaging (e.g., MRA) is sometimes indicated to assess potential intracranial pathology, particularly cerebrovascular disease. Episodic ataxia type 2 can be corroborated by genetic testing.


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First_Aid_Step2. Episodic ataxia type 2 can be corroborated by genetic testing. Tx: Can usually be prevented through migraine medication, diet, or lifestyle changes. Benzodiazepines or antiemetics may be tried. Surgical therapies are not indicated. One of the most common causes of loss of consciousness 2° to an abrupt drop in cerebral perfusion. Etiologies include cardiac arrhythmias and cardiac outﬂow obstruction, vasovagal syncope, orthostatic hypotension, micturition-related syncope, basilar TIAs, and idiopathic causes. Presyncope is described as a feeling of imminent loss of consciousness without actual fainting. Commonly confused with seizures. Hx/PE: Patients may report a trigger (e.g., standing for long period of time, fear/sight of blood, Valsalva maneuver). Ménière’s disease consists of recurrent episodes, but unlike BPPV, these usually last hours to days. Unlike Ménière’s, vestibular migraine usually has no associated auditory or aural symptoms.


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First_Aid_Step2. Ménière’s disease consists of recurrent episodes, but unlike BPPV, these usually last hours to days. Unlike Ménière’s, vestibular migraine usually has no associated auditory or aural symptoms. Rule out vertebral artery dissection in those with persistent head or neck pain and intermittent isolated dizziness or vertigo. ■Typically follows a prodrome of lightheadedness or dizziness, muff ed sounds, constricting vision, diffuse weakness, diaphoresis, or pallor. Leads to loss of consciousness and muscle tone for < 30 seconds and recovery within seconds. Dx: Structural CNS causes (e.g., basilar TIA, intermittent obstructive hydrocephalus) are rare among patients who return to normal mental status and have a normal neurologic examination after a brief loss of consciousness. Seizures are more likely if limb jerking is unilateral or lasts > 30 seconds; if there is prolonged confusion after the episode; or if the patient bites the lateral aspect of their tongue.


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First_Aid_Step2. Seizures are more likely if limb jerking is unilateral or lasts > 30 seconds; if there is prolonged confusion after the episode; or if the patient bites the lateral aspect of their tongue. Unless there is a clear vasovagal faint in a young patient without cardiac disease or risk factors, place all patients on telemetry or Holter monitoring to evaluate for arrhythmia, and rule out myocardial is chemia with an ECG and cardiac enzymes. Obtain an EEG to rule out seizures. Consider an echocardiogram, a tilt-table test, or neuroimaging, especially vascular. Tx: Treat the underlying cause; avoid triggers. An autoimmune disorder caused by antibodies that bind to postsynaptic acetylcholine (ACh) receptors located at the neuromuscular junction. Most often affects young adult females, and can be associated with thyrotoxicosis, thymoma, and other autoimmune disorders.


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First_Aid_Step2. Presents with ﬂ uctuating fatigable ptosis or double vision, bulbar symptoms (e.g., dysarthria, dysphagia), and proximal muscle weakness. Symptoms typically worsen as the day progresses but f uctuate dramatically. Patients may report difficulty climbing stairs, rising from a chair, brushing their hair, and swallowing. Myasthenic crisis is rare but includes the potentially lethal complications of respiratory compromise and aspiration. Edrophonium (Tensilon test): Anticholinesterase leads to rapid amelioration of symptoms. Rarely used today owing to the risk of bradycardia. Ice test: Place a pack of ice on one eye for five minutes; ptosis resolves transiently. An abnormal single-f ber EMG and/or a decremental response to repetitive nerve stimulation can yield additional confirmation. ACh antibodies are in 80% of patients; anti–muscle-specific kinase (anti-MuSK) antibodies are in 5%.


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First_Aid_Step2. ACh antibodies are in 80% of patients; anti–muscle-specific kinase (anti-MuSK) antibodies are in 5%. Chest CT is used to evaluate for thymoma. Eighty-five percent of patients with thymoma have antibodies against striated muscle. Follow serial FVCs to determine the need to intubate. Anticholinesterases (pyridostigmine) are used for symptomatic treatment. Prednisone and other immunosuppressants (e.g., azathioprine, cyclosporine, mycophenolate) are the mainstays of treatment. In severe cases, plasmapheresis or IVIG may provide temporary relief (days to weeks). Resection of thymoma can be curative. Avoid giving certain antibiotics (e.g., aminoglycosides) and drugs (e.g., β-blockers) to patients with myasthenia gravis. An autoimmune disorder caused by antibodies directed toward presynaptic calcium channels in the neuromuscular junction. Small cell lung carcinoma is a significant risk factor (60% of cases).


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First_Aid_Step2. An autoimmune disorder caused by antibodies directed toward presynaptic calcium channels in the neuromuscular junction. Small cell lung carcinoma is a significant risk factor (60% of cases). Hx/PE: Presents with weakness and fatigability of proximal muscles along with depressed or absent DTRs. Extraocular, respiratory, and bulbar muscles are typically spared. Dx: Repetitive nerve stimulation reveals a characteristic incremental response. Also diagnosed by autoantibodies to presynaptic calcium channels and a chest CT indicative of a lung neoplasm. Tx: Treat small cell lung carcinoma; tumor resection may reverse symptoms. 3,4-diaminopyridine or guanidine can be given; acetylcholinesterase inhibitors (pyridostigmine) can be added to either regimen. Corticosteroids and azathioprine can be combined or used alone for immunosuppression.


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First_Aid_Step2. Although the pathogenesis of MS is unclear, there is evidence of an autoimmune etiology in genetically susceptible individuals who are exposed to environmental triggers such as viral infections. Such potential etiologies are thought to be T-cell mediated. The female-to-male ratio is 3:2, and onset is typically between 20 and 40 years of age. MS becomes more common as one moves farther away from the equator. Subtypes are relapsing-remitting, primary progressive, secondary progressive, and progressive relapsing (see Table 2.10-9). Presents with multiple neurologic complaints that are separated in time and space and are not explained by a single lesion. As the disease progresses, permanent deficits may accumulate. Limb weakness, optic neuritis, paresthesias, diplopia, vertigo, nystagmus, gait unsteadiness, urinary retention, sexual and bowel dysfunction, depression, and cognitive impairment are also seen. Symptoms classically worsen transiently with hot showers.


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First_Aid_Step2. Attacks are unpredictable but on average occur every 1.5 years, lasting for 6–8 weeks. Neurologic symptoms can come and go or be progressive. The prognosis is best with a relapsing and remitting history. Lhermitte’s sign, demonstrated by sharp pain traveling up or down the neck and back with ﬂexion, generally suggests the presence of cervical myelitis. Repetitive nerve stimulation reveals a characteristic incremental response in Lambert-Eaton myasthenic syndrome, and a decremental response in myasthenia gravis. The classic triad in MS is scanning speech, intranuclear ophthalmoplegia, and nystagmus. Pregnancy may be associated with a ↓ in symptoms of MS. T AB LE 2.1 0-9. Subtypes of Multiple Sclerosis


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First_Aid_Step2. The classic triad in MS is scanning speech, intranuclear ophthalmoplegia, and nystagmus. Pregnancy may be associated with a ↓ in symptoms of MS. T AB LE 2.1 0-9. Subtypes of Multiple Sclerosis Relapses Yes. No acute episodes. Yes. Yes. Progression None. From onset. Not at onset; begins to progress later. From onset. Course of symptoms Full recovery, or def cits may remain after each episode. Minor remissions and plateaus may take place during progression. Relapses, minor remissions, and plateaus may take place during progression. Full recovery, or progressive def cits may remain after each episode. 66% 19% Develops after relapsing-remitting type. 15% Best. Worse. Worse. Worse. Percentage of cases at onset Prognosis For optic neuritis, give IV, not oral, corticosteroids. MRI shows multiple, asymmetric, often periventricular white matter lesions (Dawson’s fingers), especially in the corpus callosum. Active lesions enhance with gadolinium.


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First_Aid_Step2. MRI shows multiple, asymmetric, often periventricular white matter lesions (Dawson’s fingers), especially in the corpus callosum. Active lesions enhance with gadolinium. CSF reveals mononuclear pleocytosis (> 5 cells/μL), an ↑ IgG index, or oligoclonal bands (nonspecific). Abnormal somatosensory or visual evoked potentials may also be present. Corticosteroids should be given during acute exacerbations. Immunomodulators alter relapse rates in relapsing-remitting MS and include interferon-β1a (Avonex/Rebif), interferon-β1b (Betaseron), and copolymer-1 (Copaxone). Mitoxantrone can be given for worsening relapsing/remitting or progressive MS. Alternative treatments include cyclophosphamide, IVIG, and plasmapheresis. Symptomatic therapy is crucial and includes baclofen for spasticity; cholinergics for urinary retention; anticholinergics for urinary incontinence; carbamazepine or amitriptyline for painful paresthesias; and antidepressants for clinical depression.


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First_Aid_Step2. An acute, rapidly progressive, acquired demyelinating autoimmune disorder of the peripheral nerves that results in weakness. Also known as acute inﬂ ammatory demyelinating polyneuropathy. Associated with recent Campylobacter jejuni infection, viral infection, or inﬂuenza vaccination. Approximately 85% of patients make a complete or near-complete recovery (may take up to one year). The mortality rate is < 5%. Classically presents with progressive (over days), symmetric, ascending paralysis (distal to proximal) involving the trunk, diaphragm, and cranial nerves. Atypical presentations are common, including variants that begin with cranial involvement or progress unpredictably to involve the respiratory muscles. Autonomic dysregulation, areﬂexia, and dysesthesias may be present. Evidence of diffuse demyelination is seen on EMG and nerve conduction studies, which show ↓ nerve conduction velocity.


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First_Aid_Step2. Autonomic dysregulation, areﬂexia, and dysesthesias may be present. Evidence of diffuse demyelination is seen on EMG and nerve conduction studies, which show ↓ nerve conduction velocity. Supported by a CSF protein level > 55 mg/dL with little or no pleocytosis (albuminocytologic dissociation). Admit to the ICU for impending respiratory failure. Plasmapheresis and IVIG are first-line treatments. Corticosteroids are not indicated. Aggressive physical rehabilitation is imperative. A chronic, progressive degenerative disease of unknown etiology characterized by loss of upper and lower motor neurons. Also known as Lou Gehrig’s disease. ALS has an unrelenting course and almost always progresses to respiratory failure and death, usually within five years of diagnosis. Males are more commonly affected than females, and onset is generally between ages 40 and 80.


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First_Aid_Step2. Presents with asymmetric, slowly progressive weakness (over months to years) affecting the arms, legs, diaphragm, and lower cranial nerves. Some patients initially present with fasciculations. Weight loss is common. Associated with UMN and/or LMN signs (see Table 2.10-4). Eye movements and sphincter tone are generally spared. Tongue atrophy and fasciculation may be apparent. Emotional lability is a common feature. The clinical presentation is usually diagnostic. Involvement of the tongue (CN XII) or oropharyngeal muscles (CN IX, X), known as “bulbar” involvement, suggests pathology above the foramen magnum and generally excludes the most common differential, cervical spondylosis with compressive myelopathy, as a cause. EMG/nerve conduction studies reveal widespread denervation and fibrillation potentials. Such studies are principally performed to exclude other demyelinating motor neuropathies.


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First_Aid_Step2. EMG/nerve conduction studies reveal widespread denervation and fibrillation potentials. Such studies are principally performed to exclude other demyelinating motor neuropathies. CT/MRI of the cervical spine is done to exclude structural lesions, particularly in those without bulbar involvement. A 55-year-old male presents with slowly progressive weakness in his left upper extremity and later his right, associated with fasciculations but without bladder disturbance and with a normal cervical MRI. Think ALS. Supportive measures and patient education. A chronic, progressive, global decline in multiple cognitive areas (see the mnemonic the 5 A’s of dementia). Alzheimer’s disease accounts for 60–80% of cases. The differential diagnosis is described in the mnemonic DEMENTIAS. Take care not to confuse delirium and dementia (see the Psychiatry chapter).


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First_Aid_Step2. Risk factors for AD include age, female gender, a family history, Down syndrome, and low educational status. Pathology involves neurof brillary tangles, neuritic plaques with amyloid deposition, amyloid angiopathy, and neuronal loss. Amnesia for newly acquired information is usually the first presenting sign, followed by language deficits, acalculia, depression, agitation, psychosis, and apraxia (inability to perform skilled movements). Mild cognitive impairment may precede AD by 10 years. Survival is 5–10 years from the onset of symptoms, with death usually occurring 2° to aspiration pneumonia or other infections. Except for the mental state, the physical exam is generally normal. A diagnosis of exclusion that can be defnitively diagnosed only on autopsy; suggested by clinical features and by an insidiously progressive cognitive course without substantial motor impairment.


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First_Aid_Step2. A diagnosis of exclusion that can be defnitively diagnosed only on autopsy; suggested by clinical features and by an insidiously progressive cognitive course without substantial motor impairment. MRI or CT may show atrophy and can rule out other causes, particularly vascular dementia, normal pressure hydrocephalus, and chronic subdural hematoma. PET imaging shows nonspecific bilateral temporoparietal hypometabolism. CSF is normal. Neuropsychological testing can help distinguish dementia from depression. Hypothyroidism, vitamin B12 deficiency, and neurosyphilis should be ruled out in atypical cases. Prevention of associated symptoms: Provide supportive therapy for the patient and family. Treat depression, agitation, sleep disorders, hallucinations, and delusions.


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First_Aid_Step2. Prevention of associated symptoms: Provide supportive therapy for the patient and family. Treat depression, agitation, sleep disorders, hallucinations, and delusions. Prevention of disease progression: Cholinesterase inhibitors (donepezil, rivastigmine, galantamine, and tacrine) are first-line therapy. Tacrine is associated with hepatotoxicity and is less often used. Memantine, an NMDA receptor antagonist, may slow decline in moderate to severe disease. Dementia associated with a history of stroke and cerebrovascular disease is the second most common type of dementia. Risk factors include age, hypertension, diabetes, embolic sources, and a history of stroke. Criteria for the diagnosis of vascular dementia include the presence of dementia and two or more of the following: Focal neurologic signs on exam. Symptom onset that was abrupt, stepwise, or related to stroke. Brain imaging showing evidence of old infarctions or extensive deep white matter changes 2° to chronic ischemia.


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First_Aid_Step2. Symptom onset that was abrupt, stepwise, or related to stroke. Brain imaging showing evidence of old infarctions or extensive deep white matter changes 2° to chronic ischemia. Protocols for the prevention and treatment of vascular dementia are the same as those for stroke. A rare, progressive form of dementia characterized by atrophy of the frontal and temporal lobes. Round intraneuronal inclusions known as Pick bodies are the classic pathologic finding. Patients present with signifcant changes in behavior and personality early in the disease. Other symptoms include speech disturbance, inattentiveness, and occasionally extrapyramidal signs. Unlike Parkinson’s disease, frontotemporal dementia rarely begins after age 75. The diagnosis is suggested by clinical features and by evidence of circumscribed frontotemporal atrophy revealed by MRI or CT. Treatment is symptomatic only; no curative therapy has yet been made available.


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First_Aid_Step2. Treatment is symptomatic only; no curative therapy has yet been made available. A potentially treatable form of dementia that is thought to arise from impaired CSF outﬂow from the brain. Symptoms include the classic triad of dementia, gait apraxia, and urinary incontinence. Headaches and other signs of ↑ ICP (e.g., papilledema) typically do not appear, although continuous ICP monitoring may reveal spikes of elevated pressure. If a patient shows abrupt changes in symptoms over time rather than a steady decline, think vascular dementia. If a patient presents with rapid cognitive decline over the course of weeks to months, think CJD. The diagnosis is suggested by clinical features. The gait is classically described as “magnetic” or with “feet glued to the ﬂoor,” as the forefoot is not completely dorsally extended. LP or continuous lumbar CSF drainage for several days reveals normal pressure but may cause clinically significant improvement of the patient’s symptoms.


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First_Aid_Step2. LP or continuous lumbar CSF drainage for several days reveals normal pressure but may cause clinically significant improvement of the patient’s symptoms. CT or MRI shows ventricular enlargement out of proportion to sulcal atrophy. Surgical CSF shunting is the treatment of choice. Although it is the most common prion disease, CJD remains an extremely rare form of dementia. CJD is a member of the transmissible spongiform encephalopathies, all of which are characterized by spongy degeneration, neuronal loss, and astrocytic proliferation. In CJD, an abnormal protease-resistant prion protein accumulates in the brain. CJD causes a subacute dementia with ataxia or myoclonic jerks with rapid clinical decline that is noted weeks to months after symptom onset. Suggested by clinical features. The differential diagnosis often includes viral encephalitis, Hashimoto’s (steroid-responsive) encephalopathy, and toxic encephalopathy (e.g., lithium or bismuth).


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First_Aid_Step2. Suggested by clinical features. The differential diagnosis often includes viral encephalitis, Hashimoto’s (steroid-responsive) encephalopathy, and toxic encephalopathy (e.g., lithium or bismuth). EEG shows pyramidal signs and periodic sharp waves. MRI with diffusion-weighted imaging may show ↑ T2 and FLAIR intensity in the putamen and the head of the caudate and is also used to exclude structural brain lesions. CSF is usually normal. Definitive diagnosis can be made only by brain biopsy or autopsy. Specimens must be handled with special precautions to avoid transmission. Currently, there is no effective treatment. Most patients die within one year of symptom onset.


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First_Aid_Step2. Currently, there is no effective treatment. Most patients die within one year of symptom onset. A rare, hyperkinetic, autosomal-dominant disease involving multiple abnormal CAG triplet repeats (< 29 is normal) within the HD gene on chromosome 4. The number of repeats typically expands in subsequent generations, leading to earlier expression and more severe disease (anticipation). Life expectancy is 20 years from the time of diagnosis. Presents at 30–50 years of age with gradual onset of chorea (sudden onset of purposeless, involuntary dancelike movements), altered behavior, and dementia (begins as irritability, clumsiness, fidgetiness, moodiness, and antisocial behavior). Weight loss and depression may also be seen. A clinical diagnosis confirmed by genetic testing. CT/MRI show cerebral atrophy (especially of the caudate and putamen). Molecular genetic testing is conducted to determine the number of CAG repeats.


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First_Aid_Step2. CT/MRI show cerebral atrophy (especially of the caudate and putamen). Molecular genetic testing is conducted to determine the number of CAG repeats. There is no cure, and disease progression cannot be halted. Treat symptomatically. Reserpine or tetrabenazine can be given to minimize unwanted movements. Psychosis should preferably be treated with atypical antipsychotics to reduce the risk of extrapyramidal side effects or tardive dyskinesia. SSRIs are first-line therapy for depression. Genetic counseling should be offered to offspring. An idiopathic hypokinetic disorder that usually begins after age 50–60 and is attributable to dopamine depletion in the substantia nigra. It is characterized pathologically by Lewy bodies, which are intraneuronal eosinophilic inclusions. The “Parkinson’s tetrad” consists of the following: Resting tremor (e.g., “pill rolling”). Rigidity: “Cogwheeling” due to the combined effects of rigidity and tremor.


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First_Aid_Step2. The “Parkinson’s tetrad” consists of the following: Resting tremor (e.g., “pill rolling”). Rigidity: “Cogwheeling” due to the combined effects of rigidity and tremor. Bradykinesia: Slowed movements and difficulty initiating movements. Festinating gait (a wide leg stance with short accelerating steps) without arm swing is also seen. Postural instability: Stooped posture, impaired righting reﬂ exes, freezing, falls. Other manifestations include masked facies, memory loss, and micrographia. Parkinsonism is the broader clinical phenotype of bradykinesia and rigidity (with or without substantial tremor). It is often caused by disorders other than idiopathic Parkinson’s disease, most commonly multiple subcortical infarcts (“vascular parkinsonism”).


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First_Aid_Step2. Nonidiopathic causes of parkinsonism include viral encephalitis (postencephalitic parkinsonism), trauma (dementia pugilistica), and numerous toxins (e.g., manganese, MPTP [designer drugs], and, iatrogenically, neuroleptics [tardive dyskinesia]). Some of these disorders are diagnosed on the basis of failure of levodopa/carbidopa to produce a clinical response. Other idiopathic dementias may mimic Parkinson’s disease and include progressive supranuclear palsy and multiple system atrophy. If a 43-year-old male patient presents with sudden onset of chorea, irritability, and antisocial behavior and his father experienced these symptoms at a slightly older age, think Huntington’s disease. A signif cant difference between gait abnormalities in Parkinson’s and that of NPH is preservation of arm swing in NPH. There are four PaRTS to Parkinson’s: Postural instability, Rigidity (cogwheeling), Tremor (“pill rolling”), and Slowed movements (bradykinesia).


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First_Aid_Step2. There are four PaRTS to Parkinson’s: Postural instability, Rigidity (cogwheeling), Tremor (“pill rolling”), and Slowed movements (bradykinesia). A side effect associated with pramipexole is uncontrolled gambling. Most CNS tumors are metastatic. The most common 1° CNS tumors in adults are glioblastoma multiforme and meningioma. The most common 1° CNS tumors in children are medulloblastomas and astrocytomas. Liver and Skin Go to the BRain: Liver, Skin, GI, Breast, Renal. Two-thirds of 1° brain tumors in adults are supratentorial. One-third of those in children are supratentorial. Levodopa and carbidopa, both of which are dopamine precursors, are the mainstays of therapy. Dopamine agonists (ropinirole, pramipexole, bromocriptine) can be used for treatment in early disease. Apomorphine is another dopamine agonist that can be used for rescue therapy if a sudden additional dose is needed. Selegiline (an MAO-B inhibitor) may be neuroprotective and may ↓ the need for levodopa.


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First_Aid_Step2. Selegiline (an MAO-B inhibitor) may be neuroprotective and may ↓ the need for levodopa. Catechol-O-methyltransferase (COMT) inhibitors (entacapone or tolcapone) are not given alone but ↑ the availability of levodopa to the brain and may ↓ motor ﬂ uctuations. Amantadine has mild antiparkinsonian activity and may improve akinesia, rigidity, and tremor. It can be used for temporary, short-term monotherapy early in the course of the disease. If medical therapy fails, surgical pallidotomy or chronic deep brain stimulation may produce clinical benefit. Intracranial neoplasms may be 1° (30%) or metastatic (70%). Of all 1° brain tumors, 40% are benign, and these rarely spread beyond the CNS. Metastatic tumors are most often from 1° lung, breast, kidney, and GI tract neoplasms and melanoma. They occur at the gray-white junction; may be multiple discrete nodules; and are characterized by rapid growth, invasiveness, necrosis, and neovascularization.