Classic Presentations I

Question 1

Achilles tendon xanthoma

Answer 1

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 2

Arachnodactyly,
lens dislocation,
aortic dissection,
hyperflexible joints

Answer 2

Marfan’s syndrome (fibrillin defect)

Question 3

Back pain, fever, night sweats, weight loss

Answer 3

Pott’s disease (vertebral TB)

Question 4

Bilateral hilar adenopathy

Answer 4

Sarcoidosis (noncaseating granulomas)

Question 5

Blue sclera

Answer 5

Osteogenesis imperfecta (type I collagen defect)

Question 6

Bone pain, bone enlargement, arthritis

Answer 6

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

Question 7

Butterfly facial rash and Raynaud’s phenomenon in a young female

Answer 7

SLE

Question 8

Chorea, dementia, caudate degeneration

Answer 8

Huntington’s disease (autosomal-dominant CAG repeat expansion)

Question 9

Cold intolerance

Answer 9

Hypothyroidism

Question 10

Conjugate lateral gaze palsy, horizontal diplopia

Answer 10

Internuclear opthalmoplegia (damage to MLF; bilateral [MS]; unilateral [stroke])

Question 11

Dark purple skin/mouth nodules

Answer 11

Kaposi’s sarcoma (usually AIDS patients [MSM]; associated w/ HHV8)

Question 12

Dermatitis, dementia, diarrhea

Answer 12

Pellagra (niacin [vitamin B3] deficiency)

Question 13

Dilated cardiomyopathy, edema, alcoholism/malnutrition

Answer 13

Wet beriberi (thiamine [vitamin B1] deficiency)

Question 14

Dry eyes, dry mouth, arthritis

Answer 14

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

Question 15

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 15

Measles (Morbillivirus)

Question 16

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 16

Kluver-Bucy syndrome

Question 17

Hyperreflexia hypertonia, Babinksi sign presnt

Answer 17

UMN damage

Question 18

Hyporreflexia, hypotonia, atrophy, fasiculations

Answer 18

LMN damage

Question 19

Hypoxemia, polycythemia, hypercapnia

Answer 19

Blue bloater (chronic bronchitis, hyperplasia of mucous cells)

Question 20

Large rash with bull’s eye appearance

Answer 20

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia).

Question 21

Lucid interval after traumatic brain injury

Answer 21

Epidural hematoma (middle meningeal artery rupture)

Question 22

Neonate with arm paralysis following a difficult birth

Answer 22

Erb-Duchenna palsy (superior trunk [C5-C6] brachial plexus injury: waiter’s tip)

Question 23

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

Answer 23

MS

Question 24

Painful blue fingers/toes hemolytic anemia

Answer 24

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

Question 25

Painful, pale, cold fingers/toes

Answer 25

Raynaud's phenomenon (vasospasm in extremities)

Question 26

Pink complexion, dyspnea, hyperventilation

Answer 26

Pink puffer (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])

Question 27

Positive anterior drawer sign

Answer 27

ACL injury

Question 28

Pruritic, purple, polygonal, planar papules and plaques

Answer 28

Lichen planus

Question 29

Ptosis. miosis, anhidrosis

Answer 29

Horner's syndrome (sympathetic chain lesion)

Question 30

Pupil accommodates but doesn't react

Answer 30

Argyll Robertson pupil (neurosyphilis)

Question 31

Rapidly progressive leg weakness that ascends following GI/URI

Answer 31

Guillain Barre syndrome (acute autoimmune demyelinating polyneuropathy

Question 32

Red currant jelly sputum in alcoholic or diabetic patient

Answer 32

Klebsiella pneumoniae

Question 33

Resting tremor, rigidity, akinesia, postural instability

Answer 33

Parkinson's disease (nigrostriatal dopamine depletion)

Question 34

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 34

Kartagener's syndrome ( dyne in arm defect affecting cilia)

Question 35

Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

Answer 35

Koplik spots (muscles; rubeola virus)

Question 36

Sudden swollen.painful big toe joint, tophi

Answer 36

Gout/podagra (hyperuricemia)

Question 37

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

Answer 37

Scurvy (vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis

Question 38

Bouchard's nodules

Answer 38

osteophytes on PIP

Question 39

Heberden's nodules

Answer 39

osteophytes on DIP

Question 40

Swollen, hard painful finger joints

Answer 40

Osteoarthritis (osteophytes on PIP and DIP)

Question 41

Toe extension/fanning on plantar scrape

Answer 41

Babinski sign (UMN lesion)

Question 42

Unilateral facial drooping involving forehead

Answer 42

Facial nerve (LMN CN VII palsy)

Question 43

Urethritis, conjunctivitis, arthritis in a male

Answer 43

Reactive arthritis associated with HLA-B27

Question 44

Worst headache of my life

Answer 44

Subarachnoid hemorrhage