TC1

Question 1

A 29 year old female presents to the ER rapidly worsening vision, pain behind the eye, difficulty speaking, incontinence, and weakness on her left side. Upon PE, you note an afferent pupillary defect, shooting pain down the spine with neck flexion, and depressive symptoms. She describes an episode of sudden blindness and weakness that happened two years ago; it came on suddenly while at the beach, resolved within the hour, and hasn’t returned since. Lab testing reveals demyelinating lesions on MRI and oligoclonal bands with CSF.

Answer 1

Name: Multiple Sclerosis Key Processes: inflammation, demyelination, blood-brain barrier disruption

Key Structures: CNS axons, HLA-DRB1 (gene)

Mechanism: immune dysfunction + environmental factors + genetic factors

Drugs: acute inflammation=>methylprednisolone; Inferferon [beta-1b,1a]; glatiramir; dimethyl fumarate; natalizumab; fingolimod; teriflunomide; mitoxantrone

Prognosis: Thirds! 1/3=disability, 1/3=functional disability, 1/3=limited deficits

Treatment:

Associated Dxs:

Question 2

A 5 year old male presents to your clinic with parents concerned about his neck weakness, waddling gait, and delayed motor milestones. They note he struggles to “keep up” with his friends. Upon PE, you note the patient rises from a prone position by rolling over to kneel, pushing down with the arms to straighten the legs, then moving their hands onto the knees to climb up the thighs. Lab testing reveals elevated CK levels and an abnormal EKG.

Answer 2

Name: Duchenne Muscular Dystrophy (X-linked recessive) Key Processes: degeneration, necrosis Key Structures: dystrophin, skeletal muscle; Xp21 (gene location) Mechanism: excess extracellular calcium entry Drugs: Prognosis: chronically progressive, usually fatal by 20 y/o Treatment: supportive–braces, wheelchairs, surgery, etc. Associated Dxs: kyphoscoliosis, contractures, hypoventilation, tachycardia, cardiac fibrosis

Question 3

A 29 year old female presents to your clinic complaining of worsening vision, pain behind her eye, and weakness on her left side. Upon PE, you note an afferent pupillary defect and shooting pain down the spine with neck flexion. Lab testing reveals necrotic spinal lesions and demyelination on MRI, pleocytosis (more WBC’s) with CSF, and aquaporin-4 antibodies in the blood.

Answer 3

Name: Neuromyelitis Optica (NMO)

Key Processes: demyelination

Key Structures: optic nerve, spinal cord

Mechanism:

Drugs: immunosuppressives

Prognosis:

Treatment:

Associated Dxs:

Question 4

A 58 year old male presents to the ER complaining of acute onset paralysis she said began 3 hours ago. Upon PE, you note a BP of 180/95, hyperreflexia, a loss of pain/temp beneath the nipple level, and normal vibration/proprioception findings.

Answer 4

Name: Anterior Spinal Artery Occlusion

Key Processes:

Key Structures:

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 5

A 25 year old female presents to your clinic complaining of facial weakness, difficulty lifting heavy objects, and tripping frequently. Upon PE, you note the patient is unable to smile or whistle, has winged scapulas, and has weakness with ankle dorsiflexion. Lab tests reveal a mildly elevated CK and a myopathic EMG.

Answer 5

Name: Facioscapulohumeral Dystrophy (autosomal dominant)

Key Processes: unknown

Key Structures: face muscles, shoulder girdle muscles

Mechanism: unknown

Drugs:

Prognosis: good–life expectancy not diminished Treatment: supportive–wheelchairs, orthoses

Associated Dxs: sensorineural hearing loss, vascular retinal disease (rare associations)

Question 6

A 13 year old male presents to your clinic complaining of muscle pain during his soccer tryouts at school. His parents have noted that he seems exceptionally tired after his episodes. Lab testing reveals elevated creatine kinase (CK) levels and a mutation in the CPT2 gene.

Answer 6

Name: Carnitine Palmitoyltransferase 2 Deficiency Key

Processes: recurrent rhabdomyolysis

Key Structures: skeletal muscle; CPT 2 (gene)

Mechanism:

Drugs:

Prognosis:

Treatment: avoiding prolonged exercise and fasting; carb consumption prior to exercise; frequent meals

Associated Dxs: myoglobinuria–>renal failure (severe)

Question 7

A 65 year old female presents to your clinic complaining of frequent falls and difficulty walking. She says she’s had trouble concentrating recently and feels weaker than she used to. Upon PE, you note loss of vibration and proprioception in her legs, a stocking-glove pain and temperature loss in her hands, and fasciculations in her leg muscles. Lab values indicate elevated methylmalonic acid and homocysteine levels.

Answer 7

Name: Vitamin B12 deficiency

Key Processes:

Key Structures: dorsal columns, peripheral nerves, CST

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 8

PT: hair loss, muscle aches, dry skin, constipation, fatigue PE: LAB:

Answer 8

Name: Metabolic/Endocrine Neuropathy

Key Processes: hypothyroidism

Key Structures:

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs: carpal tunnel syndrome, sensorimotor peripheral neuropathy

Question 9

A 60 year old male presents to your clinic complaining of worsening weakness, problems walking, and incontinence. Upon PE, you note muscle spasticity, hyperreflexia, decreased vibration/proprioception, and mental signs indicative of dimentia.

Answer 9

Name: AIDS myelopathy

Key Processes:

Key Structures:

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 10

A 34 year old female presents to the ER with acute onset nausea, diarrhea, slurred speech, and droopy eyelids. Upon PE, you note fever, ptosis, mydriasis, dry mouth, and multiple injection sites in her forearms. Lab testing reveals a 20-50 Hz incremental EMG.

Answer 10

Name: Botulism

Key Processes: toxicity, descending paralysis

Key Structures: Clostridium botulinum

Mechanism:

Drugs: antibiotics, botulinum antitoxin

Prognosis: not good if treatment delayed (respiratory failure) Treatment: gastric lavage

Associated Dxs: heroin use, eating homemade canned food

Question 11

A 45 year old female presents to the ER complaining of severe abdominal pain, progressive weakness in her extremities, and pain and tingling in her extremities. Upon PE, you note tachycardia, a state of confusion, and moderate agitation. Lab testing reveals a conduction block on EMG and high urine porphobilinogen. The patient was recently diagnosed with toxoplasmosis and began a sulfadiazine treatment regimen yesterday.

Answer 11

Name: Acute Intermittent Porphyria

Key Processes: deficiency

Key Structures: porphobilinogen deaminase (interruption of heme biosynthesis)

Mechanism: autosomal dominant

Drugs: IV heme

Prognosis:

Treatment: carbohydrate administration

Associated Dxs: respiratory failure

Question 12

PT: heavy alcohol use, very painful, B12 deficiency, B6 toxicity–> sensory neuronopathy (loss of vibration, proprioception)–>gait ataxia PE: LAB:

Answer 12

Name: Nutritional/Alcoholic Neuropathy

Key Processes:

Key Structures: nerve endings

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs: spinal cord findings (B12 deficiency)

Question 13

A 56 year old female presents to your office complaining of frequent tripping and difficulty raising her foot. Upon PE, you note a prominent foot drop, sensory loss between the first and second digits, strength in plantar flexion and inversion, and weakness in eversion and dorsiflexion.

Answer 13

Name: Peroneal Neuropathy

Key Processes: compression

Key Structures: peroneal nerve (most commonly @ fibular head)

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 14

A 34 year old female presents to the ER complaining of acute onset leg weakness, incontinence, and pain which feels like a “tight band” around her chest. Upon PE, you note a Babinski sign, no reflexes, and a flaccid weakness.

Answer 14

Name: Transverse Myelitis

Key Processes: acute inflammation

Key Structures: spinal cord

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 15

A 46 year old male presents to your clinic complaining of shooting pain in his neck, an electrical sensation that goes up and down his spine, and incontinence. Upon PE, you note bilateral UMN weakness below the T5 myotome, loss of virb/prop below T5 dermatome, brisk reflexes, and a bilateral up-movement of the big toe when stroking the bottom of the foot.

Answer 15

Name: Compressive Myelopathy

Key Processes: compression

Key Structures: spinal cord (cervical most common)

Mechanism: varied (see associated dxs)

Drugs:

Prognosis:

Treatment:

Associated Dxs: Spondylosis, disc herniation, cancer (Pb KTL-Lead Kettle)

Question 16

PT: PE: LAB: Metronodazole: antobiotic Nutrofurantoin: antibiotic

Answer 16

Name: Toxic Neuropathy

Key Processes:

Key Structures: Microtubules

Mechanism: Vincristine inhibits microtubules’ polymerization, axonal transport

Drugs: INH with B6

Prognosis:

Treatment: Good prognosis after cancer treatments subside

Associated Dxs:

Question 17

A 65 year old female presents to the ER complaining of a severe headache, confusion, and a strange rash. Upon PE, you note a fever. Lab tests reveal elevated lymphocytes and protein levels in the CSF, and specific IgM and IgG antibodies in the blood.

Answer 17

Name: West Nile Virus Key

Processes: degeneration

Key Structures: anterior horn cells

Mechanism: mosquito bite

Drugs:

Prognosis:

Treatment: supportive

Associated Dxs:

Question 18

PT: diabetic PE: LAB: hemoglobin A1C

Answer 18

Name: Diabetic Neuropathy

Key Processes: hyalinization; interceullar hyperglycemia; osmotic damage

Key Structures: endoneural arterioles; glucose–> sorbitol; axons, Schwann cells

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs: orthostatic hypotension

Question 19

A 55 year old male presents to your clinic complaining of progressive weakness, muscle cramps, and weight loss over the past 5 months. He says that his speech has become more difficult to understand in the last month. He also notes trouble swallowing in the same time period. He notices that his all his muscles have begun to twitch. Upon PE, you note moderate diffuse weakness, a bilateral foot drop, increased muscle tone, fasciculations in both legs, and atrophy in the hand muscles. His reflexes are normal as well as his sensation.

Answer 19

Name: Amyotrophic Lateral Sclerosis (ALS)

Key Processes: degeneration

Key Structures: UMN neuron bodies, anterior horn cells, nucleus ambiguus, hypoglossal nucleus

Mechanism:

Drugs: riluzole

Prognosis:

Treatment:

Associated Dxs:

Question 20

A 52 year old female presents to the ER with an acute loss of coordination and gait. Upon PE, you note loss of vibration/proprioception in her legs, no weakness, no pain, and normal temperature/pain sensation.

Answer 20

Name: Posterior Spinal Artery Occlusion

Key Processes:

Key Structures: spinal cord, dorsal columns

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 21

A 65 year old male presents to your clinic complaining of shooting pain in his legs, gait problems, and incontinence. Upon PE, you note loss of vibration/proprioception in his legs.

Answer 21

Name: Tabes Dorsalis

Key Processes: neurosyphilis

Key Structures: posterior columns, dorsal nerve roots, bowel, bladder

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 22

What three conditions are present in a patient with Miller-Fischer variant of BGS? What antibodies are present in ONLY this condition?

Answer 22

Acute ophthalmoplegia, ataxia, and areflexia; anti-GQ1b antibodies

Question 23

A 28 year old female presents to your clinic complaining of sore muscles and weakness over the past four weeks. Upon PE, you note weakness in the proximal muscles of the appendages. Lab tests reveal high CK levels, a myopathic EMG, and a muscle biopsy high in T cells. (Diagnosed by exclusion)

Answer 23

Name: Polymyositis

Key Processes: T-cell attack

Key Structures: muscle fibers

Mechanism: unknown

Drugs: steroids, immunosuppressants, IVIG

Prognosis:

Treatment:

Associated Dxs: dysphagia, myalgia

Question 24

A 42 year old male presents to the ED with acute onset diarrhea, urinary incontinence, nausea, vomiting, difficulty breathing, and confusion. Upon PE, you note miosis, bradycardia, and excessive salivation. 12 hours after admission, the patient undergoes respiratory failure and is intubated.

Answer 24

Name: Organophosphate Exposure

Key Processes: irreversible inhibition

Key Structures: AChE

Mechanism:

Drugs: atropine, pralidoxime

Prognosis:

Treatment: supportive; 5-15 days for recovery

Associated Dxs: (12-96 hours post-exposure) respiratory failure, proximal –> distal muscle weakness

Question 25

A 42 year old female presents to the ER complaining of a fever, weakness, and severe cramps. Upon PE, you note that the weak muscles are also atrophic and fasciculating, and speech is slurred. Lab tests indicate aseptic meningitis.

Answer 25

Name: Poliomyelitis

Key Processes: destruction

Key Structures: anterior horn cells (LMN)

Mechanism: disruption of blood-brain barrier

Drugs:

Prognosis:

Treatment: supportive

Associated Dxs: respiratory failure

Question 26

A 15 year old male presents to your clinic with parents concerned about his neck weakness, waddling gait, and delayed motor milestones. He notes struggling to “keep up” with his friends. Upon PE, you note the patient rises from a prone position by rolling over to kneel, pushing down with the arms to straighten the legs, then moving their hands onto the knees to climb up the thighs. Lab testing reveals elevated CK levels and an abnormal EKG.

Answer 26

Name: Becker Muscular Dystrophy (X-linked recessive)

Key Processes: degeneration, necrosis

Key Structures: dystrophin, skeletal muscle; Xp21 (gene location)

Mechanism: excess extracellular calcium entry

Drugs:

Prognosis: Chronically progressive–slower than DMD, usually fatal by 50 y/o

Treatment: supportive–braces, wheelchairs, surgery, etc.; GENETIC COUNSELING–these pt’s often live to have children

Associated Dxs: kyphoscoliosis, contractures, hypoventilation, tachycardia, cardiac fibrosis

Question 27

A 70 y/o male presents to your clinic with leg weakness, a dry mouth, and constipation. He has smoked a pack-a-day since he was 25 y/o. Upon PE, you note absent reflexes, proximal leg weakness, and ocular dysmotility. You also note that brief sustained muscle contraction results in a corresponding brief increase in muscle strength and reflexes. Lab tests reveal antibodies against pre-synaptic voltage-gated calcium channels.

Answer 27

Name: Lambert-Eaton Syndrome (LES); “Myasthenia Syndrome”

Key Processes: autoimmune attack

Key Structures: voltage-gated calcium channels, nicotinic/muscarinic receptors

Mechanism: secondary to tumor development

Drugs: 3,4-diaminopyridine (blocks K+ channels –> longer AP)

Prognosis: Treatment: look for lung cancer, chest CT every 6 mo

Associated Dxs: cancer (small cell lung cancer)

Question 28

A 23 year old male is admitted to the ER following a motor vehicle accident. He cannot move his legs, trunk, or hands, although he can move his wrist. He has also lost sensation on his legs, trunk, and the back of his hands.

Answer 28

Name: Acute Spinal Cord Trauma (consistent w/lower cervical cord fracture)

Key Processes: compression

Key Structures: spinal cord

Mechanism:

Drugs: high dose steroids

Prognosis:

Treatment: surgery

Associated Dxs:

Question 29

A 15 year old male presents to your office complaining of a constant tripping and difficulty lifting the roof of his foot. Upon PE, you note a bilateral foot drop, atrophy beneath the knees, abnormally high foot arches, and “hammer toes.” Lab testing reveals slow conduction on EMG.

Answer 29

Name: Charcot-Marie-Tooth

Key Processes: slowed nerve conduction

Key Structures: myelin

Mechanism: (often) autosomal dominant– gene duplication (PMP22)

Drugs:

Prognosis:

Treatment: none

Associated Dxs:

Question 30

A 56 year old male presents to the clinic complaining of a slowly progressive thigh weakness, weakened handgrip, and trouble swallowing. Upon PE, you note weakness of the quadriceps and finger flexors. Lab tests reveal midly elevated CK and inclusion bodies seen on electron microscopy of a muscle biopsy.

Answer 30

Name: Inclusion Body Myositis (can be hereditary)

Key Processes: T-cell attack

Key Structures: muscle fibers

Mechanism:

Drugs: none

Prognosis: slowly progressive

Treatment: responds to NO treatment

Associated Dxs:

Question 31

A 65 year old female presents to your clinic complaining of a numb hand, shoulder pain, and frequent nocturnal waking. Upon PE, you note numbness in her first three digits and atrophy of the thenar eminence in the patient’s affected extremity. Lab testing reveals distal motor and sensory latencies on EMG in the affected extremity.

Answer 31

Name: Carpal Tunnel Syndrome

Key Processes: compression

Key Structures: median nerve

Mechanism:

Drugs:

Prognosis: fairly good

Treatment: wrist splint, surgery (highly, highly successful & effective)

Associated Dxs:

Question 32

A 34 year old female presents to your clinic complaining of problems walking up stairs, lifting her arms above her head, and a strange skin rash. Upon PE, you notice violet-colored scaly lesions over her eyelids and extensor surfaces. Lab tests reveal normal reflexes, normal sensation, high CK, and a myopathic EMG.

Answer 32

Name: Dermatomyositis

Key Processes: autoimmune attack

Key Structures: microvasculature in muscles (plasmacytoid dendritic cells)

Mechanism: unknown

Drugs: steroids, immunosuppressants, IVIG

Prognosis:

Treatment:

Associated Dxs: dysphagia, myalgia, ovarian cancer (5-7x),

Question 33

A 45 year old female presents to the ER complaining of progressive weakness in her extremities, a facial droop, and pain and tingling in her extremities. Upon PE, you note tachycardia, BP of 180/95, limb weakness to resistance, vibration/proprioception defects, and absent reflexes. Lab testing reveals high protein levels in the patient’s CSF, and a conduction block on EMG.

Answer 33

Name: Guillan-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathy

Key Processes: demyelination

Key Structures: peripheral and cranial nerves

Mechanism: (often) viral illness- usually Camphylobacter jejuni

Drugs:

Prognosis: progressive weakness over 3 weeks, 3-5% mortality, most patients have a good recovery (although incomplete) Treatment: plasma exchange (PL-EX), IVIG

Associated Dxs: respiratory failure (1-2 wks), autonomic dysfunction (cardiac arrhythmias)

Question 34

A 32 year old male presents to the ER with a burned hand. He says he was cooking burgers at a barbeque and didn’t realize his hand caught fire until he looked back to the grill from talking with a friend.

Answer 34

Name: Syringomyelia

Key Processes: central cavitation

Key Structures: spinal cord (STT)

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 35

A 57 year old male presents to your clinic complaining of double vision and droopy eyelids brought on by fatigue. He complains of difficulty driving home after work each day. Upon PE, you note normal sensation to pinprick, normal reflexes, ptosis, and episodic dysarthria. Lab tests reveal a positive edrophonium test and ACh receptor antibodies.

Answer 35

Name: Myasthenia Gravis

Key Processes: autoimmune attack

Key Structures: post-synaptic nicotinic ACh receptors

Mechanism:

Drugs: Pyridostigmine (ACh-inhibitor), oral steroids, azathoprine (allows to use less steroids), IVIG

Prognosis:

Treatment: thymectomy, chest CT for thymoma,

Associated Dxs: hyperthyroidism, thymoma (8-10%), myasthenic crisis (necessary hospitalization)

Question 36

A 45 year old male presents to your clininc complaining of loss of strength in his right wrist. He is left-handed. Upon PE, you note a prominent wrist and finger drop, with preserved extension at the elbow.

Answer 36

Name: Radial Neuropathy

Key Processes: compression

Key Structures: radial nerve

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs: lead poisoning (rare)

Question 37

A 30 year old male presents to your clinic complaining of wrist weakness, difficulty relaxing his grip, and a tendency to trip. Upon PE, you notice ptosis, weak facial muscles, and wasted temporalis muscle. The pt’s voice has a nasal tone. Lab testing reveals normal CK and an abnormal EKG.

Answer 37

Name: Myotonic Dystrophy (autosomal dominant)

Key Processes: mutant RNAs

Key Structures: skeletal muscle; chromosome 19 (gene location)

Mechanism: trinucleotide repeat (CTG)

Drugs:

Prognosis:

Treatment: symptomatic–orthotics, pacemakers, cataract surgery

Associated Dxs: cardiac conduction abnormalities, mental retardation, respiratory insufficiency, cataracts, frontal balding, endocrine dysfunction

Question 38

What does the “lead kettle” help you remember? (Pb KTL)

Answer 38

Most common metastatic causes of compressive myelopathy (Prostate, breast, kidney, thyroid, lymphoreticular)

Question 39

A 43 year old male present to your office complaining of sensory loss in his extremities. He has recently returned from a mission trip to Brazil. Upon PE, you note loss of pain and temp in the extremities and skin ulcers at pressure points. Lab results are diagnostic with skin biopsy.

Answer 39

Name: Leprous Neuropathy

Key Processes: damage

Key Structures: intracutaneous nerves (sensory loss)

Mechanism: infection by Mycobacterium leprae

Drugs: dapsone, rifampin, clofazimine

Prognosis:

Treatment:

Associated Dxs:

Question 40

A 51 year old female presents to your clinic complaining of spastic muscles and weakness on her left side and incontinence. Upon PE, you note spasticity and weakness on her left side below the T5 myotome, as well as loss of pain and temperature sensation below the T5 dermatome.

Answer 40

Name: Brown-Sequard syndrome

Key Processes: compression

Key Structures: spinal cord (1/2)

Mechanism:

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 41

A 54 year old female presents to your clinic complaining of worsening sensory loss in her extremities. Abashed, she mentions that she still feels pain around her groin area, but her arms, legs, and trunk are now numb to painful stimuli.

Answer 41

Name: Central Spinal Cord Tumor

Key Processes: compression

Key Structures: spinal cord (STT)

Mechanism: sacral sparing!

Drugs:

Prognosis:

Treatment:

Associated Dxs:

Question 42

A 52 year old female presents to your office complaining of severe pain and large rashes. Upon PE, you note dermatome-associated rashes and pain.

Answer 42

Name: Herpes Zoster Neuropathy, Post Herpetic Neuralgia

Key Processes:

Key Structures:

Mechanism: varicella-zoster virus infection

Drugs: acyclovir, nortriptyline, gabapentin, narcotics

Prognosis:

Treatment:

Associated Dxs:

Question 43

A 51 year old male presents to your clinic complaining of weakness in his left hand. He is left-handed. Upon PE, you note dumbness in his 4th and 5th digits. Lab testing reveals a conduction block on EMG.

Answer 43

Name: Ulnar Neuropathy at the Elbow

Key Processes: compression

Key Structures: ulnar nerve

Mechanism:

Drugs:

Prognosis:

Treatment: avoid “elbow resting”

Associated Dxs:

Question 44

What features should suggest an alternative diagnosis on a patient presenting with Parkinsonian symptoms?

Answer 44

• Early dementia
• Early autonomic failure
• Early balance difficulty and falls
• Early hallucinations
• Other neurologic findings (ataxia, eye mvt abnormalities)
• Lack of response to dopamine therapy

Question 45

A 13 year old female presents to your clinic complaining of trembling limbs, slurred speech, and involuntary muscle contractions. Upon PE, you note dystonia, dysarthria, muscle rigidity, and brown rings around her otherwise blue irises. Lab tests reveal low serum ceruloplasmin levels and distinctly elevated 24 hour urine levels of the offending entity.

Answer 45

Name: Wilson’s Disease

Key Processes: dysfunctional copper metabolism

Key Structures:

Mechanism: autosomal recessive

Drugs:

Prognosis:

Treatment:

Associated Dxs: