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1
Q

Ab pain, ascites, hepatomeg

A

Budd Chiari = post hepatic venous thrombosis

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2
Q

Ab pain, diarrhea, leukocytosis, recent antibiotic use

A

C.diff

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3
Q

Achilles tendon xanthoma

A

↓LDL receptor signaling = familial hyper-chol

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4
Q

Adrenal hemm, hypotension, DIC

A

Waterhouse Friderichsen

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5
Q

Anaphylaxis post-transfusion

A

IgA def

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6
Q

Athlete w/ PCV

A

EPO injections (competitive edge)

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7
Q

Back pain, fever, night sweats

A

Potts disease

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8
Q

Bilat hilar adenopathy, uveitis

A

Sarcoidosis

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9
Q

Black eschar on face of pt with DKA

A

Mucor or Rhizopus infection

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10
Q

Blue sclera

A

Osteogen imperfecta - defect T1 coll

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11
Q

Bluish line on gingiva

A

Lead poisoning

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12
Q

Bone pain + enlargement, arthritis

A

Paget

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13
Q

Cafe au lait, Lisch nodules (iris hamartoma), cuteanous neurofibromas, pheo, optic glioma

A

NF 1

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14
Q

Unilat cafe au lait, polyostotic fibrous dysplasia, precocious puberty, multiple endo neoplasia

A

McCune Albright syndrome - mosaic G protein signaling

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15
Q

Cervical LN, desquamating rash, red conjuntivae + tongue, hand-foot changes

A

Only missing coronary aneurysm - Kawasaki, treat w/ IVIG and ASA

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16
Q

Cherry red spots on macula

A

Ganglioside accum = Tay-Sachs
Sphingomyelin accum = Neimann Pick
Central retinal artery occlusion

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17
Q
  1. Fever
  2. Face rash
  3. Body rash
A

Erythema infectiosum/5th disease = slap cheek

Parvo B19

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18
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Cong toxo

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19
Q

Chronic exercise intol w/ muscle pain, fatigue, painful cramps, myoglobinuria

A

McArdle disease - Xglyocogen phosphorylase in skeletal muscle

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20
Q

Continuous machine like murmur

A

PDA

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21
Q

Deep labored breathing/hyper vent in a DKA pt

A

Kussmaul resp

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22
Q

Dilated CM, edema, alcoholism or malnut

A

Wet beriberi

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23
Q

Dog or cat bite resulting infection

A

Pasteurella multocida - cellulitis at inoculation site

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24
Q

Enlarged, hard L supraclavicular node

A

Virchow node - abdominal mets

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25
Q

Erythroderma, LN, hepatosplen, atypical T cells

A

Mycosis fungoides = cut T cell lymphoma

Sezary syndrome = mycosis + malig T cells in blood

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26
Q

Fat, female, forty

A

Gallstones

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27
Q

Fever, chills, headache, myalgia following Ab treat syphillis

A

Jarisch Herxheimer rxn - rapid loss spirochetes -> massive endotox release

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28
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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29
Q

Fibrous plaques in ST of penis w/ abnormal curvature

A

Peyronie disease - CT disease

30
Q

Golden brown rings around peripheral CORNEA

A

Krayer Fleischer rings of Wilson’s disease (Cu)

31
Q

Gout, intell disability, self mutilating behavior in a boy

A

Lesch Nyhan - XL R, HGPRT def

32
Q

Hyperpig freckle like spots of mouth/feet/hands/genitals + hamartomatous GI polyps

A

Peutz Jeghers - inherited, benign polyps, ↑cancer risk mainly GI
No findings at birth
1st get skin lesions - 2nd GI polyps

33
Q

Hepatospleno, pancytopenia, osteoporosis, AVN femoral head, bone crisis

A

Gaucher - gluco-cerebrosidase def

34
Q

Hyper-reflex, hypertonia, Babinski

35
Q

Hypo-reflex, hypotonia, atrophy, fasiculations

36
Q

Hypoxemia, ↑RBC, hypercap

A

Chronic bronchitis - hyerplasia mucous cells

37
Q

Painful genital lesion that is an indurated ulcer with exudate

A

Chancroid - H.ducreyi

38
Q

Infant with cleft lip/palate, microcephaly or holopros, polydactyly, cutis aplasia

A

Patau - trisomy 13

39
Q

Infant w/ hypoG + hepatomeg

A

Cori disease - debranching enzyme def
or
Von Gierke - glucose-6-P def (more severe)

40
Q

Infant w/ microcephaly, rocker bottom feet, clenched hands, structural heart defect

A

Edwards - trisomy 18

41
Q

Jaundice and a palpable NON-tender GB (painless jaundice)

A

Distal malignant obstruction of biiary tree

42
Q

Lucid interval after TBI

A

Epidural hematoma - middle meningeal art

43
Q

Mucosal bleeding + prolonged bleeding time

A

X Gp2b/3a - bad platelet agg

44
Q

Muffled heart sounds, distended neck veins, hypoTN

A

Triad of cardiac tamponade

45
Q

Multiple colon polyps, osteomas/ST tumors, impacted/supernumerary teeth

A

Gardner - type FAP

46
Q

Myopathy + exercise intol (infantile hypertrophic CM)

A

Pompe disease - lysosomal alpha 1,4 glucosidase def

47
Q

Painful blue finger/toes, hemolytic anemia

A

Cold agg - AI hemolytic anemia from Mycoplasma pna, infectious mono or CLL

48
Q

Hematuria + palpable purpura

A

HS purpura / IgA vasculitis

49
Q

Pancreatic, pit, PT tumors

50
Q

Polyuria, RTA T2, growth failure, electrolyte imbalances, hypophos rickets

A

Fanconi syndrome - multiple combined dysfxn of the PCT

51
Q

Pupils that accomidate but dont’ react

A

Neurosyphilis - Argyll Robertson pupils

52
Q

Rash on palms + soles

A

Coxsack A
2ary syphilis
Rocky Mtn spotted fever

53
Q

Recurrent cold (non-inflamed) abscesses, unusual eczema, ↑IgE

A

Hyper IgE - Job syndrome = neutrophil chemotaxis abnormality

54
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia in adults

Intussusception in kids

55
Q

Retinal hemm w/ pale centers

A

Roth spots = bacterial endocarditis

56
Q

Severe jaundice in neonate

A

Crigler Najjar - congenital unconj hyperbili

57
Q

Severe RLQ pain with palpation of LLQ

A

Acute appendicitis

58
Q

Short stature, cafe au lait, thumb/radial defects, ↑incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia - no DNA crosslink repair, often progress to AML

59
Q

Skin hyperpig, hypotension, fatigue

A

1ary adrenocortical insuff (addison disease) causes ↑ACTH and ↑MSH

60
Q

Slow progressive muscle weakness in boys

A

Becker MD - XL missense mutation is dystrophin, less severe than Duchenne

61
Q

Small, irreg red spots on buccal/lingual mucosa with blue/white center

A

Koplik spots - rubeola

62
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata - 2ary syphillis

63
Q

Strawberry tongue

A

Scarlet fever or Kawasaki

64
Q

Telangiectasias, recurrent epistaxis, skin discoloration, AV malform, GI bleed, hematuria

A

Osler-Weber-Rendu syndrome

65
Q

Med thyroid, PT tumors, pheo

A

MEN 2A (AD)

66
Q

Med thyroid tumor, pheo, ganglioneuromas, marfan-ish

67
Q

Unilateral facial drooping sparing the forehead

A

UMN CN 7 palsy

LMN involves the forehead

68
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis - HLA B27

69
Q

Vascular birthmark - port wine stain - of face

A

Nevus flammeus - benign associated with Sturge Weber syndrome

70
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

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