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USmle eponymous conditions Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome -posthepatic venous thrombosis

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. Diff

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3
Q

achiles tendon xanthoma

A

Familial hypercholesterolaemia (decreased LDL)

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4
Q

adrenal haem, hypotension, DIC

A

Waterhouse-friderichsen (meningococcemia)

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5
Q

anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

marfan’s

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7
Q

athlete with polycythaemia

A

secondary to EPO injections

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8
Q

Back pain, fever, night sweats

A

vetebral TB (Pott’s disease)

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9
Q

bilateral acoustic schwannomas

A

neurofibromatosis type 2

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10
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granulomas)

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11
Q

black eschar on face with a hx of diabetic ketoacidosis

A

mucor or rhizopus fungal infection

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12
Q

blue sclera

A

osteogenesis imperfecta

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13
Q

bluish line on gingiva

A

Burton Line (lead poisoning)

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14
Q

bone pain, bone enlargement, arthritis

A

Pagets disease (increased osteoblast and cleast activity)

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15
Q

bounding pulse, wide pulse pressure, diastolic murmur, head bobbing

A

aortic regurg

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16
Q

butterfly rash and reynauds

A

SLE

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17
Q

café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune Albright syndrome (mosaic G preotein signalling mutation)

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18
Q

Café-au-lair spots, lisch nodules (iris harmatoma),cutaneous neurofibromas, pheochromocytoma, optic gliomas

A

neurofibromatosis type 1

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19
Q

calf pseudohypertrophy

A

muscular dystrophy (commonly Duchenne, due to X linked recessive mutation of dystrophin gene)

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20
Q

cherry red spots on macula

A

central retinal artery occlusion (Neimann-Pick or Tay-Sachs)

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21
Q

chest pain, pericardial friction rub (effusion), persistent fever following MI

A

Dressler syndrome (autoimmune mediated post MI occuring 2 weeks to several months after)

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22
Q

child uses arms to get up from squatting

A

duchenne muscular dystrophy

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23
Q

child with red cheeks after a fever (spreads to body)

A

slapped cheeks disease (firth disease - parvovisur B19)

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24
Q

chorea, dementia, caudate degeneration

A

huntingdon’s (autosomal dominant CAG repeat expansion)

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25
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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26
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease - skeletal muscle glycogen phosphorylase deficiency)

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27
Q

cold intolerance

A

hypothyroidism

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28
Q

conjugate gaze palsy, horizontal diplopis, nystagmus

A

internuclear opthalmoplegia (damage to MLF)

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29
Q

continuous machine like murmur

A

PDA

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30
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (hyperthyroidism, graves disease - pretibial)

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31
Q

cutaneous flushing, diarrhoea, bronchospasm

A

carcinoid syndrome (right sided cardiac valvular lesions)

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32
Q

dark purple skin/mouth nodules in pt with AIDS

A

kaposi sarcome

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33
Q

deep, laboured breathing with hyperventilation

A

Kussmauls resps (ketoacidosis)

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34
Q

dermatitis, dementia, diarrhoea

A

Pellegra (niacin - vit B3 deficiency)

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35
Q

dialated cardiomyopathy, oedema, alcoholism, malnutrition

A

Wet beriberi - thiamine deficiency (B1)

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36
Q

infection post dog or cat bite

A

Pasturella multocida - cellulitis as site

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37
Q

dry eyes, dry mouth, arthritis

A

Sjorgren’s - autoimmune destruction of exocrine glands

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38
Q

dysphagia (oesophageal webs), glossitis, iron deficiency

A

Plummer-Vinson syndrome - can progress to oesophageal SCC

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39
Q

elastic skin, hypermobility of joints, increased bleeding

A

Ehlers-Danlos (type V collagen defect, or type III collagen defect in vascular subtype)

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40
Q

enlarged, hard, left sided supraclavicular node

A

Vichow node - gastric malignancy

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41
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease

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42
Q

erythroderma, lymphadenopathy, hepatomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome

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43
Q

facial muscles spasm on taping

A

Chvostek sign - hypocalcaemia

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44
Q

fat, female, forty, fertile

A

cholelithiasis (gallstones)

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45
Q

fever, chills, headache, myalgia, following antibiotic use for syphylis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes result in endotoxin realese)

46
Q

fever, cough, conjunctivitis, coryza, diffuse rash

47
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

48
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disease)

49
Q

golden brown rings around peripheral cornea

A

Wilson disease - kayser-fleischer rings

50
Q

gout, intellectual disability, self-mutilation in a boy

A

Lesch-Nyhan syndrome - X linked recessive HGPRT deficiency

51
Q

harmatoma GI polyps, hyperpigmentation of outh, feet, hands, genitals

A

Peutz-Jeghers synfroms (inherited benign polyposis increased obstruction risk, cancer risk)

52
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic femoral head necrosis, bone crises

A

Gaucher disease - glucocerebrosidase deficiency

53
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome - mutation in collagen IV

54
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome - bilateral amygdala lesion

55
Q

hyperreflexia, hypertonia, + Babinski

56
Q

hypotonia, hyporeflexia, atrophy, fasciculations

57
Q

hypoxaemia, polycythaemia, hypercapnia

A

chronic bronchitis

58
Q

indurated, ulcerated genital lesions

A

painful with exudate: chancroid. Painless: chancre (syphylis)

59
Q

infant with cleft lip/palate, micrcephaly, polydactyl,cutis aplasia

A

Patau syndrome (trisomy 13)

60
Q

infant with hypoglycaemia, hepatomegaly

A

Cori disease (debranching enzyme disease) or Von Gierke disease (glucose-6-phosphate deficiency)

61
Q

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

A

Edwards syndrome (trisomy 18)

62
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign - distal malignant obstruction of bilairy tree

63
Q

large rash with bull’s eye appearance

A

erythema chronicum migrans - Lyme disease

64
Q

lucid intervals after traumatic brain injury

A

epidural haematome (middle menigeal artery rupture)

65
Q

male child, recurrent infections, no mature B cells

A

Bruton disease - X linked agammaglobinemia

66
Q

mucosal bleeding and prolongued bleeding time

A

glanzmann thrombasthenia - defect in platelet aggregation due to lackof GpIIb/IIIa

67
Q

muffled heart signs, distended neck veins, hypotension

A

Becks triad of cardiac tamponade

68
Q

mutiple colon polyps, osteomas/soft tissue tumors, impacted or extra teeth

A

Gardner syndrome

69
Q

myopathy (infantile hypetrophic cardiomyopathy) with exercise intolerance

A

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

70
Q

neonate with arm paralysis after a difficult birth

A

Erb-duchenne palsy (superior trunk C5-C6 brachial plexus injury) “waiters tip”

71
Q

failure to lactate postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome - pituitary infarction

72
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

multiple sclerosis

73
Q

painful blue fingers/toes, haemolytic anaemia

A

cold agglutin disease - autoimmune haemolytic anaemia caused by mycoplasm pneumoniae, infectious mononucleosis, CLL

74
Q

painful fingers/toes, changing from white to blue to red with cold or stress

A

Reynauds - peripheral vasospasm

75
Q

painful, red, raised lesions on pads of fingers/toes

A

Oslers nodes (infective endocarditis, immune complex deposition)

76
Q

painless erythematous lesions on palms/soles

A

Janeway lesions (infective endocarditis, microemboli)

77
Q

painless jaundice

A

cancer of the pancreatic head obstructing the bile duct

78
Q

palpable purpura on buttocks/legs, joint pain, abdominal pain in kids, haematuria

A

Henoch-schonlein purpura - IgA vasculitis affecting skin and kidneys

79
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1 - autosomal dominant

80
Q

periorbital and/or peripheral oedema, proteinuria >3.5g/day, hypoalbuminaemia, hypercholesterolaemia

A

nephrotic syndrome

81
Q

pink compexion, dyspnea, hyperventilation

A

pink puffer - emphysema (centriacinar smoking, panacina alpha-1 antitrypsin deficiency)

82
Q

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

A

fanconi syndrome - multiple combined dysfunction of the proximal tubule

83
Q

pruritic, purple, polygonal planar papules and plaques - 6 P’s

A

Lichen planus

84
Q

ptosis, anhydrosis, miosis

A

Horner syndrome - sympathetic chain lesion

85
Q

pupil accomodates but doesn’t react

A

argyll robertson pupil - neurosyphylis

86
Q

rash on palms and soles

A

coxsackie A virus (kids) or secondary syphylis

87
Q

recurrent non-inflammed (cold) abcesses, unussual eczema, high serum IgE

A

Job syndrome - hyper IgE with neutrophil chomoitaxis abnormality

88
Q

Red “currant jelly” sputum in alcoholic or diabetic pt’s

A

klebsiella pneumonia pneumonia

89
Q

Red “currant jelly” stools

A

acute mesenteric ischaemia in adults, intussesception in kids

90
Q

Red, itchy, swollen rash of nipple/areola

A

Pagets disease or breast - possible underlying neoplasm

91
Q

Red urine in the morning, fragile RBCs

A

paroxysmal nocturnal haemoglobinuria

92
Q

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

A

von Hippel-Lindau disease - dominant tumor suppressor gene mutation

93
Q

resting tremor, rigidity, akinesia, shufling gate

A

parkinsons - loss of dopaminergic neurons in substantia nigra pars compact

94
Q

retinal haemorhhages with pale centres

A

roths spots - infective endocarditis

95
Q

severe jaundice in neonates

A

Crigler-Najjar syndrome - congenital unconjugated hyperbilirubinemia

96
Q

severe RLQ pain on palpating LLQ

A

Rovsing sign - appendicitis

97
Q

short stature, café-au-lait spots, thumb/radial defects, increased incidence of tumors, aplastic anaemia

A

fanconi anemia - genetic loss of DNA crosslink repair, often progresses to AML

98
Q

single palmar crease

99
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

100
Q

Skin hyperpigmentation, hypotension, fatigue

A

1° adrenocortical insufficiency (eg, Addison disease) causes increased ACTH and increased ?-MSH production)

101
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy - X linked missence mutation of dystrophin

102
Q

small, irregular, red spots on buccal/lingual mucosa with blue-white centres

A

Koplik spots - measles (rubeola) virus

103
Q

smooth, moistm painless, wart-like white lesions on genitals

A

condylomata lata - secondary syphylis

104
Q

strawberry tongue

A

scalet fever, kawasaki syndrome

105
Q

streak ovaries, congenital heart disease, horseshow kidneys, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

turner sydrome (45, X)

106
Q

swollen gums, mucosal bleeding, poor wound healing, petichae

A

scurvy - viatmin C deficiency

107
Q

telangiectasia, recurrent nose bleeds, skin discolouration, arteriovenous malformation, GI bleeding, haematuria

A

Osler-Webb-Rendu syndrome

108
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2a - autosomal dominant RET mutation

109
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

110
Q

unilateral facial drooping including forehead

A

UMN disorder of CN VII

111
Q

urethritis, conjunctivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

112
Q

weight loss, diarrhoea, arthritis, fever, adenopathy

A

Whipple disease

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