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Buzz Words First Aid > Classic Presentations 2 > Flashcards

Classic Presentations 2 Flashcards

1
Q

infant with failure to thrive, hepatosplenomegaly and neurodegeneration

A

Niemann Pick Disease (genetic sphingomyelinase deficiency)

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2
Q

infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s Disease (debranching enzyme deficiency)

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3
Q

infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect

A

Edwards syndrome (trisomy 18)

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4
Q

jaundice, palpable distended non-tender gallbladder

A

Courvosier’s sign (distal obstruction of biliary tree)

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5
Q

large rash with bull’s eye appearance

A

Erythema chronic migraines from Ixodes tick bite (Lyme disease: Borrelia)

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6
Q

lucid interval after TBI

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, and 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 with 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 increased intracranial pressure)

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16
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mono)

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17
Q

painful, pale, cold 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 (infectious endocarditis, immune complex deposition)

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19
Q

painless erythematous lesions on palms and soles

A

janeway lesions (infectious endocarditis, septic emboli, microabscesses)

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20
Q

painless jaundice

A

cancer of the pancreatic head, obstructing bile duct

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21
Q

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

A

Henoch-Scholein purpura (IgA vasculitis affecting the skin and kidneys)

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22
Q

pancreatic, pituitary, parathyroid hormon

A

MEN 1 (Autosomal dominant)

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23
Q

periorbital edema/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

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24
Q

pink complexion, dyspnea, hyperventilation

A

Pink Puffer (emphysema, centriacinar (smoking) panacinar (alpha 1 antitrypsin deficiency)

25
Q

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

A

Fanconi’s Syndrome (proximal tubular reabsorption defect)

26
Q

positive anterior drawer sign

A

ACL injury

27
Q

pruritic, purple, polygonal plana papules and plaques

A

lichen planus

28
Q

ptosis, miosis, anhidrosis

A

horner’s syndrome (sympathetic chain lesion)

29
Q

pupil accommodates but doesn’t react

A

Argyll Robertson Pupil (neurosyphilis)

30
Q

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

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

31
Q

rash on palms and soles

A

Coxsackie A, Secondary Syphilis, Rocky Mountain Spotted Fever

32
Q

recurrent colds, unusual eczema, high serum IgE

A

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

33
Q

Red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

34
Q

Red Currant Jelly stools

A

acute mesenteric ischemia (adults) intussusception (infants)

35
Q

red, itchy, swollen rash or nipple/areola

A

Paget’s disease of breast, represents underlying malignancy

36
Q

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel Lindau disease (dominant tumor suppressor gene mutation)

37
Q

red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglbinuria

38
Q

resting tremor, rigidity, akinesia, postural instability

A

PD (nigrostriatal dopamine deletion)

39
Q

Retinal hemorrhages with pale centers

A

Roth Spots (bacterial endocarditis)

40
Q

severe jaundice in neonate

A

Criglar-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

41
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

42
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

43
Q

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

A

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

44
Q

single palmer crease

A

simian crease (down syndrome)

45
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

kartagener’s syndrome (dyne in arm defect affecting cilia)

46
Q

skin hyper pigmentation, hypotension, fatigue

A

addison’s disease (primary adrenocortical insufficiency causes increase in ACTH and an increase in alpha-MSH production–skin pigmentation)

47
Q

slow, progressive mm weakness in boys

A

Becker’s muscular dystrophy (x linked missense mutation in dystrophin; less severe than Duchenne’s)

48
Q

small irregular red spots on buccal/lingual ucose with blue-white centers

A

koplik spots (measles; rubeola virus)

49
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata (secondary syphilis)

50
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

51
Q

strawberry tongue

A

seen in scarlet fever, kawasaki disease, toxic shock syndrome

52
Q

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

A

Turner syndrome (45 XO)

53
Q

sudden swollen/painful big toe joint

A

gout/podagra (hyperurecemia)

54
Q

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

A

scurvy (vit C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)

55
Q

swollen, hard, painful finger joints

A

OA (osteophytes on PIP (Bouchard’s nodes), on DIP (Heberden’s nodes))

56
Q

systolic ejection murmur (crescendo-decrescendo)

A

AO valve stenosis

57
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant ret mutation)

58
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN2B (autosomal dominant ret mutation)

Buzz Words First Aid (6 decks)

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