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Boards High Yield > Classic Presentations M--Z > Flashcards

Classic Presentations M--Z Flashcards

1
Q

Male child, recurrent infections, no mature B-cells

A

Bruton disease (X-linked agammaglobulinemia)

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2
Q

Mucosal bleeding and prolonged bleeding time

A

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

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3
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

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4
Q

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

A

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

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5
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

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6
Q

Neonate with arm paralysis following difficult birth

A

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

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7
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

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8
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

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9
Q

Oscillating slow/fast breathing

A

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

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10
Q

Painful blue fingers/toes, hemolytic anemia

A

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

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11
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extrememities)

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12
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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13
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

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14
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

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15
Q

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

A

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

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16
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

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17
Q

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

A

Nephrotic syndrome

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18
Q

Pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centriacinar (smoking), panacinar (alpha1-antitrypsin deficiency)

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19
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

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20
Q

Pruritic, purple, polygonal planar papules and plaques (6Ps)

A

Lichen planus

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21
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

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22
Q

Pupil accomodates but does not react

A

Argyll Robertson pupil (neurosyphilis)

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23
Q

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

A

Guillan Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

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24
Q

Rash on palm and soles

A

Coxsackie A, secondary syphilis, Rock Mountain spotted fever

25
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

26
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

27
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussuception (infants)

28
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

29
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

30
Q

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

A

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

31
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine deletion)

32
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

33
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

34
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

35
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

36
Q

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

A

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

37
Q

Singlar palmar crease

A

Down syndrome

38
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s Syndrome (dynein arm defect affecting cilia)

39
Q

Skin hyperpigmentation, hypotension, fatigue

A

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

40
Q

Slow, progressive muscle weakness in boys

A

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

41
Q

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

A

Koplik spots (measles; rubeola virus)

42
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

43
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

44
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

45
Q

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

A

Turner syndrome (45, XO)

46
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

47
Q

Swollen gums, mucosal bleeding, poor wound healing, petchiae

A

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

48
Q

Swollen, hard, painful finger joints

A

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

49
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

50
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

51
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

52
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

53
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN 7 palsy)

54
Q

Urethritis, conjunctivitis, arthritis in a male

A

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

55
Q

Vascular birthmark (port-wine stain)

A

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

56
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

57
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

58
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

59
Q

abdominal pain out of proportion to exam, hx of afib, blood in stool

A

acute mesenteric ischemia

Boards High Yield (28 decks)

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