Classic Presentations 2

Question 2

Classic presentation

Pupil accommodates but doesn’t react

Answer 2

Argyll Robertson pupil (neurosyphilis)

(Prostitutes pupil)

Question 3

Classic presentation

Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)

Answer 3

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

Question 4

Classic presentation

Rash on palms and soles

Answer 4

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

Question 5

Classic presentation

Recurrent colds, unusual eczema, high serum IgE

Answer 5

Hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)

Question 6

Classic presentation

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 6

Klebsiella pneumoniae

Question 7

Classic presentation

Red, itchy, swollen rash of nipple/areola

Answer 7

Paget’s disease of the breast (represents underlying neoplasm)

Question 8

Classic presentation

Red urine in the morning, fragile RBC’s

Answer 8

Paroxysmal nocturnal hemoglobinuria

Question 9

Classic presentation

Renal cell carcinoma (bilateral), hamangioblastomas, angiomatosis, pheochromocytoma

Answer 9

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Question 10

Classic presentation

Resting tremor, rigidity, akinesia, postural instability

Answer 10

Parkinson’s disease (nigrostriatal dopamine depletion)

Question 11

Classic presentation

Retinal hemorrhages with pale centers

Answer 11

Roth’s spots (bacterial endocarditis)

Question 12

Classic presentation

Sever jaundice in neonate

Answer 12

Crigler-Naijar syndrome (congenital unconjugated hyperbilirubinemeia)

Question 13

Classic presentation

Sever RLQ pain with rebound tenderness

Answer 13

McBurney’s sign (appendicitis)

Question 14

Classic presentation

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

Answer 14

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

Question 15

Classic presentation

Single palm crease

Answer 15

Simian crease (Down syndrome)

Question 16

Classic presentation

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 16

Kartanger’s synderome (dynein arm defect affecting cilia)

Question 17

Classic presentation

Skin hyperpigmentation

Answer 17

Addison’s disease (primpary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

Question 18

Classic presentation

Slow, progressive muscle weakness in boys

Answer 18

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

Question 19

Classic presentation

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

Answer 19

Koplik spots (measles; rubeola virus)

Question 20

Classic presentation

Smooth, flat, moist white lesions on genitals

Answer 20

Condylomata lata (secondary syphilis)

Question 21

Classic presentation

Splinter hemorrhages in fingernails

Answer 21

Bacterial endocarditis

Question 22

Classic presentation

“Strawberry tongue”

Answer 22

Scarlet fever, Kawasaki disease, toxic shock syndrome

Question 23

Classic presentation

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

Answer 23

Turner Syndrome (45XO, short stature, webed neck, lymphedema)

Question 24

Classic presentation

Sudden swollen/painful big toe joint, tophi

Answer 24

Gout/podagra (hyperuricemia)

Question 25

Classic presentation

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

Answer 25

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

Question 26

# Classic presentation Swollen , hard, painful finger joints

Answer 26

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

Question 27

# Classic presentation Systolic ejection murmur (crescendo-decrescendo)

Answer 27

Aortic valve stenosis

Question 28

# Classic presentation Thyroid and parathyroid tumors, pheochromocytoma

Answer 28

MEN 2A (autosomal dominant ret mutation)

Question 29

# Classic presentation Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 29

MEN 2B (autosomal dominant ret mutation)

Question 30

# Classic presentation Toe extension/fanning upon plantar scrape

Answer 30

Babinski Sign (UMN lesion)

Question 31

# Classic presentation Unilateral facial drooping involving the forehead

Answer 31

Bell's palsy (LMN CN7 palsy)

Question 32

# Classic presentation Urethritis, conjunctivitis, arthritis in a male

Answer 32

Reactive arthritis associated with HLA-B27

Question 33

# Classic presentation Vascular birthmark (port-wine stain)

Answer 33

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

Question 34

# Classic presentation Vomiting blood following esophagogastric lacerations

Answer 34

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Question 35

# Classic presentation "Waxy" casts with very low urine flow

Answer 35

Chronic end-stage renal disease

Question 36

# Classic presentation WBC casts in urine

Answer 36

Acute pyelonephritis

Question 37

# Classic presentation Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 37

Whipple's disease (Tropheryma whippelii)

Question 38

# Classic presentation "Worst headache of my life"

Answer 38

Subarachonid hemorrhage