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FA rapid review > classical presentations 2 > Flashcards

classical presentations 2 Flashcards

1
Q

infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease

genetic sphingomyelinase deficiency

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2
Q

infant w/ hypoglycemia, failure to thrive and hepatomegaly

A

Cori’s disease

debranching enzyme deficiency

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3
Q

infant w/ microcephaly, rocker-bottom feet, clenched hands and structural heart defect

A

Edward’s syndrome

trisomy 18

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4
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign

distal obstruction of biliary tree

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5
Q

large rash w/ bull’s eye appearance

A

erythema chronicum migrans from Ixodes tick bite

Lyme disease: Borrelia

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6
Q

Lucid interval after traumatic brain injury

A

epidural hematoma

middle meningeal artery rupture

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7
Q

male child, recurrent infections, no mature B cells

A

Bruton’s disease

X-linked agammaglobulinemia

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8
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia

defect in platelet aggregation due to lack of GPIIb/IIIa

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9
Q

muffled heart sounds, distended neck veins, hypotension

A

beck’s triad of cardiac tamponade

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10
Q

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

A

Gardner’s syndrome (subtype of FAP)

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11
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease

lysosomal alpha-1,4-glucosidase deficiency

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12
Q

neonate w/ arm paralysis following difficult birth

A

Erb-Duchenne palsy

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

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13
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome

pituitary infarction

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14
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

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15
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations

central apnea in CHF or increase intracranial pressure

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16
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease

AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis

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17
Q

painful, pale, cole fingers/toes

A

Raynaud’s phenomenon

vasospasm in extremities

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18
Q

painful, raised red lesions on pad of fingers/toes

A

Osler’s node

infective endocarditis, septic emboli/microabscesses

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19
Q

painful jaundice

A

cancer of pancreatic head obstructing bile duct

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20
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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21
Q

pancreatic, pituitary, parathyroid tumors

A

MEN I (autosomal dominant)

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22
Q

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

A

nephrotic syndrome

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23
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer”
(emphysema: centriacinar [smoking],
panacinar=>alpha-1 antitrypsin deficiency

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24
Q

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

A

Fanconi’s syndrome

proximal tubular reabsorption defect

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25
Q

positive anterior drawer sign

A

ACL injury

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26
Q

pruritic, purple, polygonal planar papules, plaques (6 Ps)

A

Lichen planus

27
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome

sympathetic chain lesion

28
Q

pupil accommodates but does not react

A

Argyll Robertson pupil

neurosyphilis

29
Q

rapidly progressive leg weakness that ascends following GI/URI

A

Guillain Barre syndrome

acute AI inflammatory demyelinating polyneuropathy

30
Q

rash on palms and soles

A

Coxsackie A, 2’ syphilis, Rocky Mountain spotted fever

31
Q

recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome

Job’s syndrome: neutrophil chemotaxis abnormality

32
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

33
Q

Red “currant jelly” stools

A

acute mesenteric ischemia (adults);

intussusception (infant up to 2y/o)

34
Q

red, itchy, swollen rash of nipple/areola

A

Paget’s disease of breast

represents underlying neoplasm

35
Q

red urine in morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

36
Q

renal cell CA (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

37
Q

resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease

nigrostriatal dopamine depletion

38
Q

retinal hemorrhages w/ pale centers

A

Roth’s spots

bacterial endocarditis

39
Q

sever jaundice in neonate

A

Crigler-Najjar syndrome

congenital unconjugated hyperbilirubinemia

40
Q

severe RLQ pain w/ palpation of LLQ

A

Rovsing’s sign

acute appendicitis

41
Q

severe RLQ pain w/ rebound tenderness

A

McBurney;s sign

appendicitis

42
Q

short stature, increase incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia

genetic loss of DNA crosslink repair; often to AML

43
Q

single palmar crease

A

Simian crease

Down syndrome

44
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome

dynein arm defect affecting cilia

45
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease

1’ adrenocortical insufficiency causes increase in ACTH and increase alpha-MSH production

46
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy

X-linked missense mutation in dystrophin => less severe than Duchenne’s

47
Q

small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

A

koplik spots

measles; rubeola virus

48
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata

2’ syphilis

49
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

50
Q

“strawberry tongue”

A

scarlet fever, kawasaki disease, toxic shock syndrome

51
Q

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

A

Turner syndrome

45, XO

52
Q

sudden swollen/painful big toe joint, tophi

A

Gout/podagra

hyperuricemia

53
Q

swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

Scurvy

vit C deficiency: cannot hydroxylate proline/lysine for collagen synthesis

54
Q

swollen, hard, painful finger joints

A

osteoarthritis
(osteophyties on PIP [Bouchard’s nodes],
DIP [Heberden’s nodes])

55
Q

systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

56
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD ret mutation)

57
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD ret mutation)

58
Q

toe extension/fanning upon plantar scrape

A

Babinski sign

UMN lesion

59
Q

unilateral facial drooping involving forehead

A

Facial nerve

LMN CN 7 palsy

60
Q

urethritis, conjuctivitis, arthritis in a male

A

reactive arthritis assoc w/ HLA-B27

61
Q

vascular birthmark (port-wine stain)

A

Hemangioma

benign, but assoc w/ Sturge-Weber syndrome

62
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome

alcoholic and bulimic patients

63
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease

tropheryma whipplei

64
Q

worst headache of my life

A

subarachnoid hemorrhage

FA rapid review (9 decks)

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