Classic Presentations 5

Question 1

Pupil accommodates but doesn’t react?

Answer 1

Argyll Robertson pupil (neurosyphilis)

Question 2

Rapidly progressive leg weakness that ascends following GI/upper respiratory infeciton?

Answer 2

Guillain-Barre syndrome (acute autoimmune inflammatroy demyelinating polyneuropathy)

Question 3

Rash on palms and soles?

Answer 3

Coxsacki A, secondary syphilis, RMSF

Question 4

Recurrent colds, unusual eczema, high serum IgE?

Answer 4

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

Question 5

Red “currant jelly” sputum in alcoholic or diabetic patients?

Answer 5

Klebsiella pneumoniae

Question 6

Red, itchy, swollen rash on nipple/areola?

Answer 6

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

Question 7

Red urine in morning, fragile RBCs?

Answer 7

Paroxysmal nocturnal hemoglobinuria

Question 8

Renal cell carcinoma (b/l), hemangioblastomas, angiomatosis, pheochromocytoma?

Answer 8

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

Question 9

Resting tremor, rigidity, akinesia, postural instability?

Answer 9

Parkinson’s (nigrostriatal dopamine depletion)

Question 10

Retinal hemorrhages with pale centers?

Answer 10

Roth’s spots (bacterial endocarditis)

Question 11

Severe jaundice in neonate?

Answer 11

Crigler-Najjar syndrome (congenital high UCB)

Question 12

Severe RLQ pain with palpation of LLQ?

Answer 12

Rovsing’s sign (acute appendicitis)

Question 13

Severe RLQ pain with rebound tenderness?

Answer 13

McBurney’s point (appendicitis)

Question 14

Short stature, high incidence of tumors/leukemias, aplastic anemia?

Answer 14

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

Question 15

Single palmar crease?

Answer 15

Simian crease (Down’s)

Question 16

Situs inversus, chronic sinusitis, bronchiectasis, infertility?

Answer 16

Kartagener’s syndrome (dynein arm defect affecting cilia)

Question 17

Skin hyperpigmentation, hypotension, fatigue?

Answer 17

Addison’s dz (primary adrenocortical insufficiency causes high ACTH and high a-MSH production)

Question 18

Slow, progressive muscle weakness in boys?

Answer 18

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

Question 19

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

Answer 19

Koplik spots (measles [rubeola] virus)

Question 20

Red “currant jelly” stools

Answer 20

Acute mesenteric ischemia (adults), intussusception (infants)