Classic Presentations Flashcards

1
Q

Abdominal pIn, Ascites, Hepatomegaly

A

Budd Chiari Syndrome- post hepatic venous thrombosis

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2
Q

Achilles tendon xanthoma

A

Familial Hypercholesterolemia- Dec LEL receptor signaling

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3
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse Friedrichsen syndrome- meningococcemia

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4
Q

Arachnodactyly, lends dislocation, aortic dissection, hyperflexible joints

A

Marfan Syndrome- fibrillin syndrome

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5
Q

Athlete with polycythemia

A

secondary to EPO injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease- vertebral Tb

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7
Q

Bilateral hilar LAD, uvevitis

A

Sarcoidosis- noncaseating granulomas

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8
Q

blue sclera

A

Osteogenesis Imperfecta- Type 1 collegen defect

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9
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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10
Q

Butterfly facial rash and raynaud phenomenon in a young female

A

SLE

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11
Q

Cafe-au - lait spots, Lisch nodules (iris hamartomas)

A

NFB type 1 + pheochromocytoma + optic gliomas

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12
Q

Cafe-au-lait spots, polycystic fibrous dysplasia, percocious puberty, multiple endocrine abnormalities

A

McCune- Albright syndrome- mosaic G protein signaling mutation

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13
Q

Calf pseudohypertrophy

A

Muscular dystrophy (normally Duchenne’s): X linked recessive deletion of dystrophin gene

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14
Q

Cherry red spot macula

A

tay sachs- ganglioside accumulation
Niemann Pick- sphingomyelin accumulation
central retinal artery occlusion

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15
Q

Chest pain on exertion

A

Angina- stable= with moderate exertion, unstable= minimal exertion.

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16
Q

Chest pain, pericardial effusion/ friction rub, persistent fever following MI

A

Dressler’s syndrome- AI mediated post MI fibrinous pericarditis 1-12 weeks after an episode

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17
Q

Child uses ams to stand up from squat (Gower’s sign0

A

Duchenne muscular dystrophy

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18
Q

Child with a fever that later develops red rash on face that spreads to the body

A

slapped cheeks= erythema infectosum/ fifth disease= parvovirus B19)

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19
Q

Chorea, dementia, caudate degeneration

A

Huntingdon disease- CAG repeat expansion, AD

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20
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, and myoglobinuria

A

McArdle’s disease= muscle glycogen phosphorylase deficiency

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21
Q

Cold intolerance

A

Hypothyroidism

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22
Q

Conjugate lateral gaze palsy, Horizontal diplopia

A

NO- damage to MLF, bilat MS, or unilateral stroke

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23
Q

Continuous machinery heart murmus

A

PDA- close with indomethacin, open or maintain with misoprostol

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24
Q

Cutaneous/dermal edema due to CT tissue deposition

A

Myxedema from hypothyroidism, pretibial myxedema= Graves disease

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25
Q

Dark Purple Skin/ Mouth Nodules

A

Kaposi’s sarcoma, associated with HHV-8, in AIDS

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26
Q

Deep, Labored breathing, hyperventilation

A

Kussmal breathing- diabetic ketoacidosis

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27
Q

Dermatitis, Dementia, Diarrhea

A

Pellagra= Niacin/ B3 deficiency

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28
Q

Dilated Cardiomypoathy, edema, alcoholism or malnutrition

A

Wet Beriberi= Thiamin/ B1 deficiency

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29
Q

Dor or Cat bite resulting in infection

A

Pasturella multocida- cellulitis at inoculation site

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30
Q

Dry eyes, Dry mouth, arthritis

cant see, can’t spit, can’t climb shit

A

Sjogrens syndrome- autoimmune destruction of exocrine glands

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31
Q

Dysphagia (esophogeal webs), glossitis, Fe deficiency anemia

A

Plummer Vinson Syndrome that may progress to esophogeal squamous cell dysmotility

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32
Q

Elastic skin, hypermotibility of joints

A

Ehlers- Danlos Syndrome- type III collagen defect

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33
Q

enlarged, hard left supraclavicular LN

A

virchows node- abdominal mets

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34
Q

Erythroderma, LAD, hepatosplenomegaly, atypical T cells

A

sezary syndrome- cutaenous T cell lymphoma or mycosis fungoides

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35
Q

facial muscle spasm on tapping

A

Chvostec sign- hypocalcemia

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36
Q

Fat, female, forty, and fetile

A

risk factors for cholelithiasis (cholesterol gallstones)

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37
Q

Fever, chills, HA, myalgia following antibiotics for syphillis

A

Jarisch- herxheimer rxn= rapid lysis of spirochetes resulting in toxin release

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38
Q

fever, cough, conjuctivitis, coryza, diffuse rash

A

Measles (morbillovirus)

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39
Q

Fever, night sweats, weight loss

A

B symptoms- staging of lymphoma

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40
Q

fibrous plaques in soft tissue of penis

A

Peyronies disease (CT tissue disorder)

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41
Q

Gout, MR, self mutilating behavior in a boy

A

Lesh- Nyhan syndrome- HGPRT deficiency- X recessive

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42
Q

Green- yellow rings around peripheral cornea

A

Kayser Fleisher rings= Cu buildup in Wilson’s disease

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43
Q

Hamartomatous GI pyolyps, hyperpigmentation of mouth/feet/hands

A

Peutz- Jeger’s syndrome- inherited, benign polyposis that can cause bowel obstruction, inc cancer risk, mostly GI

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44
Q

Hepatosplenomegaly, osteoperosis, neurologic symptoms

A

Guacher’s disease- glucocerebrosidase deficiency

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45
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Syndrome- mutation in alpha chain oc collagen IV

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46
Q

Hyperphasia, Hypersexuality, Hyperorality, Hyperdocility

A

Kluver- Bucy syndrome- bilateral amygdala lesion

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47
Q

Hyperreflexia, hypertonia, babinski’s sign

A

UMN lesion

48
Q

Hyporelfexia, hypotonia, atrophy, fasciculations

A

LMN damage

49
Q

Hypoxemia, polycythemia, hypercapnia

A

COPD- blue bloater, hyperplasia of mucous cells

50
Q

Indurated, Ulcerated genital lesions

A

Non painful= primary syphillis, chancre- treponema pallidum

Painful with exudate= Chancroid- Haemophilis ducreyi

51
Q

Infant with left lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau’s syndrome- trisomy 13

52
Q

Infant with FTT, hepatosplenomegaly, and neurodegeneration

A

Niemann Pick disease- genetic sphingomyelinase deficiency

53
Q

Infant with with hypoglycemia, FTT, and Hepatomegaly

A

Cori disease- deficiency of debranching enzyme

54
Q

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

A

Edward syndrome Trisomy 18

55
Q

Jaundice, palpable, distended, and non tender gall bladder

A

Courvoisier’s sign- distal obstruction of biliary tree

56
Q

Large rash with bull’s eye appearance

A

Erythema Chronicum migrans from ioxdes tick- lyme disease, borellia

57
Q

Lucide interval after traumatic brain injury

A

Epidural hematoma- MMA rupture

58
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease ( X- linked agammabulinemia)

59
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzman’s thrombocytopenia- defected in platelet aggregation due to lack of GpIIb/IIIa

60
Q

Muffled heart sounds, distended neck veins, hypotension

A

Becks triad of cardiac temponade

61
Q

Multiple colon polyps, osteomas/ soft tissue tumors, impacted supernumeray teeth

A

Gardner’s syndrome- subtype of FAP

62
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

63
Q

Neonate with arm paralysis following long difficult birth

A

erb- duchenne palsy- superior trunk C5-C6 brachial plexus injury= waiters tip

64
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome- pituitary infarction

65
Q

Nystagmus, intention tremor, scanning speech, bilateral INO

A

MS

66
Q

oscillating slow/ fast breathing

A

Cheyne Stokes respirations- central apnea in CHF or inc ICP

67
Q

Painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease- AI hemolytic anemia caused by M. Pneumonia, or infections mono

68
Q

Painful, raised red lesions on pads of fingers and toes

A

Osler’s node- infective endocarditis, immune complex deposition

69
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions- infective endocarditis, septic emboli, microabscesses

70
Q

Painless Jaundice

A

Cancer of the pancreatic head obstructing the bile duct

71
Q

Palpable purpura on buttocks/ legs, joint pain, abdominal pain in a child, hematuria

A

Henoch Schonlein purpura- IgA vasculitis of skin and kidneys

72
Q

Pancreatic, pituitary, and parathyroid tumors

A

MEN 1- AD

73
Q

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

A

Nephrotic syndrome

74
Q

Pink complexion, dyspnea, hypoventialtion

A

pink puffer- emphysema.

75
Q

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

A

Fanconis syndrome- proximal tubular reabsorption defect

76
Q

Positie anterior drawer sign

A

ACL injury

77
Q

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

A

Lichen Planus

78
Q

Ptosis, Miosis, Anhydrosis

A

Horner’s syndrome- SNS chain lesion

79
Q

Pupil accommodates, but doesn’t react

A

Argyll Robertson pupil- neurosyphyllis

80
Q

Rapidly progressive leg weakness that ascents following GI/ Upper respiratory infections

A

GBS- Acute Autoimmune inflammatory demylenating polyneuropathy

81
Q

Rash on Palms and Soles

A

Coxackie A, secondary syhphilis, Rocky Mountain Spotted fever

82
Q

Recurrent Colds, unusual eczema, high serum IgE

A

Hyper IgE syndrome- Job’s Syndrome- neutrophil chemotaxis abnormality

83
Q

Red “currant jelly” sputum in an alcoholic or diabetic patient

A

Klebsiella Pneumoniase

84
Q

Red “currant jelly” stool

A

Acute mesenteric ischemia- adults

intusssception- intant

85
Q

Red, itchy, swollen rash or nipple or areola

A

Paget’s disease of the breast- represents an underlying neoplasm

86
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemaglobinuria

87
Q

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

A

von hipple lindau disease- dominant TSG mutation

88
Q

resting tremor, rigidity, akinesia, postural instability

A

PD

89
Q

Retinal hemorrhages with pale centers

A

roth spots- bacterial endocarditis

90
Q

Severe Jaundice in Neonate

A

Crigler- Najjar syndrome congenital uncongigated hyperbilirubinemia

91
Q

severe RLQ pain with plapation of LLQ

A

Rovsing’s sign- acute apendicitis

92
Q

Severe RLQ with rebound tenderness

A

McBurney’s point- acute appendicitis

93
Q

Short stature, inc incidence of turmos/ leukemia, aplastic anemia

A

Fanconi’s anemia- genetic loss of DNA crosslink repair, often progresses to AML

94
Q

Single Palmar crease

A

Simian crease- Down Syndrome

95
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

kartagener’s syndrome- dynein arm defect of cilia

96
Q

skin hyper-pigmentation, hypotension, fatigue

A

addison’s disease- primary adrenocortical insufficiency causes increase of ACTH and alpha MSH production

97
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy- X linked missense mutation in dystrophin, less severe than Duchenne’s

98
Q

small, irregular red spots on buccal/inguinal mucosa with blue-white centers

A

koplic spots- measles- rubeola virus

99
Q

smooth, flat, moist, painless white lesions on genitals

A

condyloma lata, secondary syphilis

100
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

101
Q

“strawberry tongue”

A

scarlet fever, kawasaki disease, toxic schock syndrome

102
Q

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

A

Turner syndrome- 45, XO

103
Q

sudden swollen/ painful big toe joint, tophi

A

Gout/ Podagra- hyperuricemia

104
Q

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

A

scurvy- vitamin C defeciency- cant hydroxylate proline and lysine for collagen synthesis

105
Q

swollen, hard, painful finger joints- PIP AND DIP

A

Osteoarthritis- osteophytes on PIP (broucahrd’s nodes), DIP (Herberden’s nodes)

106
Q

Systolic ejection murmur- crescendo/decrescendo

A

aortic valve stenosis

107
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A- AD ret mutation

108
Q

thryroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B- AD ret mutation

109
Q

Toe extenstion, fanning upon planta scrape

A

babinski sign- UMN lesion

110
Q

Unilateral facial drooping involving forehead

A

facial nerve palsy- LMN CN VII

111
Q

Urethritis, conjuctivitis, arthritis in male

A

reactive arthritis assoc with HLA- B27

cant see, cant pee, cant climb a tree

112
Q

Vascular birthmark (port wine stain)

A

hemangioma- benign but associated with sturge weber syndrome

113
Q

vomiting blood following gastroesophogeal lacerations

A

mallory- weiss syndrome- alcoholic and bulemic patients

114
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple disease- Trophyerma whippeli

115
Q

worst headache of my life

A

SAH

116
Q
FEVERSS
Fever
Erythema Marginatum
Valvular damage
ESR increase
Red hot joints (migratory polyarthritis)
Subcutaneous nodules
Syndenham's chorea
A

Rheumatic fever