Classic Presentations M--Z

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 thrombasthemia (defect in platelet aggregation due to lack of GpIIb/IIIa

Question 3

Muffled heart sounds, distended neck veins, hypotension

Answer 3

Beck’s triad of cardiac tamponade

Question 4

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

Answer 4

Gardner syndrome (subtype of FAP), mismatch repair defact, autosomal dominant APC gene

Question 5

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 5

Pompe disease (lysosomal alpha-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 opthalmoplegia

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 extrememities)

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-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

Question 16

Pancreatic, pituitary, parathyroid tumors

Answer 16

MEN1 (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 (alpha1-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 (6Ps)

Answer 20

Lichen planus

Question 21

Ptosis, miosis, anhidrosis

Answer 21

Horner syndrome (sympathetic chain lesion)

Question 22

Pupil accomodates but does not react

Answer 22

Argyll Robertson pupil (neurosyphilis)

Question 23

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

Answer 23

Guillan Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 24

Rash on palm and soles

Answer 24

Coxsackie A, secondary syphilis, Rock 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), intussuception (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)

Question 31

Resting tremor, rigidity, akinesia, postural instability

Answer 31

Parkinson disease (nigrostriatal dopamine deletion)

Question 32

Retinal hemorrhages with pale centers

Answer 32

Roth spots (bacterial endocarditis)

Question 33

Severe jaundice in neonate

Answer 33

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 34

Severe RLQ pain with palpation of LLQ

Answer 34

Rovsing sign (acute appendicitis)

Question 35

Severe RLQ pain with rebound tenderness

Answer 35

McBurney sign (acute appendicitis)

Question 36

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

Answer 36

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

Question 37

Singlar palmar crease

Answer 37

Down syndrome

Question 38

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 38

Kartagener’s Syndrome (dynein arm defect affecting cilia)

Question 39

Skin hyperpigmentation, hypotension, fatigue

Answer 39

Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)

Question 40

Slow, progressive muscle weakness in boys

Answer 40

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

Question 41

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

Answer 41

Koplik spots (measles; rubeola virus)

Question 42

Smooth, flat, moist, painless white lesions on genitals

Answer 42

Condylomata lata (secondary syphilis)

Question 43

Splinter hemorrhages in fingernails

Answer 43

Bacterial endocarditis

Question 44

“Strawberry tongue”

Answer 44

Scarlet fever, Kawasaki disease, toxic shock syndrome

Question 45

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

Answer 45

Turner syndrome (45, XO)

Question 46

Sudden swollen/painful big toe joint, tophi

Answer 46

Gout/podagra (hyperuricemia)

Question 47

Swollen gums, mucosal bleeding, poor wound healing, petchiae

Answer 47

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

Question 48

Swollen, hard, painful finger joints

Answer 48

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

Question 49

Systolic ejection murmur (crescendo-decrescendo)

Answer 49

Aortic valve stenosis

Question 50

Thyroid and parathyroid tumors, pheochromocytoma

Answer 50

MEN 2A (autosomal dominant ret mutation)

Question 51

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 51

MEN 2B (autosomal dominant ret mutation)

Question 52

Toe extension/fanning upon plantar scrape

Answer 52

Babinski sign (UMN lesion)

Question 53

Unilateral facial drooping involving forehead

Answer 53

Facial nerve (LMN CN 7 palsy)

Question 54

Urethritis, conjunctivitis, arthritis in a male

Answer 54

Reactive arthritis associated with HLA-B27 (Reiter’s syndrome)

Question 55

Vascular birthmark (port-wine stain)

Answer 55

Hemangioma (benign but associated with Sturge-Weber syndrome [neuro-oculo cutaneous syndrome])

Question 56

Vomiting blood following gastroesophageal lacerations

Answer 56

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Question 57

Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 57

Whipple disease (tropheryma whipplei)

Question 58

“Worst headache of my life”

Answer 58

Subarachnoid hemorrhage