Rapid Review - Classic Presentations (3)

Question 1

Male child, recurrent infections, no mature B cells

Answer 1

Bruton disease (X-linked agammaglobulinemia)

Question 2

Mucosal bleeding and prolonged bleeding time

Answer 2

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 3

Muffled heart sounds, distended neck veins, hypotension

Answer 3

Beck triad of cardiac tamponade

Question 4

Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth

Answer 4

Gardner syndrome (subtype of FAP)

Question 5

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 5

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

Question 6

Neonate with arm paralysis following difficult birth

Answer 6

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)

Question 7

No lactation postpartum, absent menstruation, cold intolerance

Answer 7

Sheehan syndrome (pituitary infarction)

Question 8

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 8

Multiple sclerosis

Question 9

Oscillating slow/fast breathing

Answer 9

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

Question 10

Painful blue fingers/toes, hemolytic anemia

Answer 10

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

Question 11

Painful, pale, cold fingers/toes

Answer 11

Raynaud phenomenon (vasospasm in extremities)

Question 12

Painful, raised red lesions on pad of fingers/toes

Answer 12

Osler nodes (infective endocarditis, immune complex deposition)

Question 13

Painless erythematous lesions on palms and soles

Answer 13

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Question 14

Painless jaundice

Answer 14

Cancer of the pancreatic head obstructing bile duct

Question 15

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

Answer 15

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)

Question 16

Pancreatic, pituitary, parathyroid tumors

Answer 16

MEN 1 (autosomal dominant)

Question 17

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Answer 17

Nephrotic syndrome

Question 18

Pink complexion, dyspnea, hyperventilation

Answer 18

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

Question 19

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Answer 19

Fanconi syndrome (proximal tubular reabsorption defect)

Question 20

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

Answer 20

Lichen planus

Question 21

Ptosis, miosis, anhidrosis

Answer 21

Horner syndrome (sympathetic chain lesion)

Question 22

Pupil accommodates but doesn’t react

Answer 22

Argyll Robertson pupil (neurosyphilis)

Question 23

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

Answer 23

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 24

Rash on palms and soles

Answer 24

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Question 25

Recurrent colds, unusual eczema, high serum IgE

Answer 25

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

Question 26

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 26

Klebsiella pneumoniae

Question 27

Red “currant jelly” stools

Answer 27

Acute mesenteric ischemia (adults), intussusception (infants)

Question 28

Red, itchy, swollen rash of nipple/areola

Answer 28

Paget disease of the breast (sign of underlying neoplasm)

Question 29

Red urine in the morning, fragile RBCs

Answer 29

Paroxysmal nocturnal hemoglobinuria

Question 30

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

Answer 30

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