Rapid Review - Classic Presentations (4)

Question 1

Resting tremor, rigidity, akinesia, postural instability

Answer 1

Parkinson disease (nigrostriatal dopamine depletion)

Question 2

Retinal hemorrhages with pale centers

Answer 2

Roth spots (bacterial endocarditis)

Question 3

Severe jaundice in neonate

Answer 3

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 4

Severe RLQ pain with palpation of LLQ

Answer 4

Rovsing sign (acute appendicitis)

Question 5

Severe RLQ pain with rebound tenderness

Answer 5

McBurney sign (acute appendicitis)

Question 6

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Answer 6

Fanconi anemia (genetic loss of DNA crosslink repair; often
progresses to AML)

Question 7

Single palmar crease

Answer 7

Down syndrome

Question 8

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 8

Kartagener syndrome (dynein arm defect affecting cilia)

Question 9

Skin hyperpigmentation, hypotension, fatigue

Answer 9

Addison disease (1° adrenocortical insufficiency causes increased ACTH and increased α-MSH production)

Question 10

Slow, progressive muscle weakness in boys

Answer 10

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Question 11

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

Answer 11

Koplik spots (measles; rubeola virus)

Question 12

Smooth, flat, moist, painless white lesions on genitals

Answer 12

Condylomata lata (2° syphilis)

Question 13

Splinter hemorrhages in fingernails

Answer 13

Bacterial endocarditis

Question 14

“Strawberry tongue”

Answer 14

Scarlet fever, Kawasaki disease, toxic shock syndrome

Question 15

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Answer 15

Turner syndrome (45,XO)

Question 16

Sudden swollen/painful big toe joint, tophi

Answer 16

Gout/podagra (hyperuricemia)

Question 17

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Answer 17

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

Question 18

Swollen, hard, painful finger joints

Answer 18

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Question 19

Systolic ejection murmur (crescendo-decrescendo)

Answer 19

Aortic valve stenosis

Question 20

Thyroid and parathyroid tumors, pheochromocytoma

Answer 20

MEN 2A (autosomal dominant ret mutation)

Question 21

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 21

MEN 2B (autosomal dominant ret mutation)

Question 22

Toe extension/fanning upon plantar scrape

Answer 22

Babinski sign (UMN lesion)

Question 23

Unilateral facial drooping involving forehead

Answer 23

Facial nerve (LMN CN VII palsy)

Question 24

Urethritis, conjunctivitis, arthritis in a male

Answer 24

Reactive arthritis associated with HLA-B2

Question 25

Vascular birthmark (port-wine stain)

Answer 25

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Question 26

Vomiting blood following gastroesophageal lacerations

Answer 26

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Question 27

Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 27

Whipple disease (Tropheryma whipplei)

Question 28

“Worst headache of my life”

Answer 28

Subarachnoid hemorrhage