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Step 1 Memorization Hour > Rapid Review - Clinical Presentation > Flashcards

Rapid Review - Clinical Presentation Flashcards

1
Q

Abdominal pain, ascites and hepatomegaly

A

Budd Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent abx

A

C diff

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3
Q

Achilles Tendon Xanthoma

A

Familial hypercholesterolemia (dec LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen Syndrome (meningiococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

Marfan (auto dom fibrillin defect)

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7
Q

Athlete w/ polycythemia

A

Secondary to EPO injections

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8
Q

Back pain, fever, night sweats

A

Pott’s disease of Tb (vertebral)

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9
Q

Bilateral Acoustic Schwannoma

A

NF2 (chromosome 22)

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10
Q

Bilateral hilar lymphadenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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11
Q

Black eschar on face in pt w/ DKA

A

Mucor or Rhizopus fungal infection

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12
Q

Blue sclera

A

Osteogenesis Imperfecta (auto dom type I collagen defect - BITE)

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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

Paget disease of bone (inc osteoclasts then compensatory inc in osteoblasts)

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15
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

aortic regurgitation

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16
Q

Butterfly facial rash and Raynaud in young female

A

SLE

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17
Q

Cafe au lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheo, optic gliomas

A

NF1 (chromosome 17)

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18
Q

Cafe au lait spots (unilateral), polyostotic fibrous dysplasia of bone, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright (mosaic G protein signaling mutation)

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19
Q

Calf pseudohypertrophy

A

Muscular dystrophy

Duchenne = X-linked recessive frameshift or nonsense mutation leading to truncated or absent dystrophin gene

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20
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

Kawasaki disease (treat w/ IVIG and aspirin)

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21
Q

Cherry red spots on macula

A

Tay-Sachs (ganglioside accumulation) -NO hepatosplenomegaly

Niemann-Pick (sphingomyelin accumulation) - hepatosplenomegaly

Central retinal artery occlusion

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22
Q

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

A

Dressler’s Syndrome (autoimmune mediated post MI fibrinoid pericarditis - 2 wks to several months after acute episode)

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23
Q

Child uses arm to stand from squatting position

A

Duchenne MD (Gowers sign)

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24
Q

Child w/ fever later develops red rash on face that spreads to body

A

Erythema infectiosum / fifth disease (“slapped cheeks” appearance)

Caused by parvovirus B19

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25
Q

Chorea, dementia, caudate degeneration

A

Huntington’s (chromosome 5 - auto dom CAG expansion)

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26
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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27
Q

Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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28
Q

Cold intolerance

A

Hypothyroid

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29
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF - highly myelinated so associated w/ MS)

Unilateral or bilateral

MLF in dorsal pons

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30
Q

Continuous machine-like murmur

A

PDA

Close w/ indomethacin

Keep open w/ PGE analogs

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31
Q

Cutaneous dermal edema due to connective tissue deposition

A

Myxedema associated w/ hypothyroidism and Graves

Graves = pre-tibial

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32
Q

Cutaneous flushing, bronchospasm, diarrhea

A

Carcinoid syndrome

R sided cardiac valve disease, inc in 5-HIAA

Often in GI but only cause symptoms if metastasize to liver or beyond because otherwise liver metabolizes 5-HIAA

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33
Q

Dark purple skin and mouth nodules in patients w/ AIDS

A

Kaposi sarcoma - HHV8

Filled w/ lymphocytes

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34
Q

Deep labored breathing and hyperventilation

A

Kussmaul respirations

Seen in DKA (trying to comp for acidosis)

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35
Q

Dermatitis, dementia, diarrhea

A

Pellagra - niacin deficiency (vit B3)

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36
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beri beri (vit B1 / thiamine deficiency)

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37
Q

Dog or cat bite resulting in infection

A

Pastruella multocida (cellulitis at inoculation site)

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38
Q

Dry eyes, dry mouth, arthritis

A

Sjogrens (autoimmune destruction of exocrine glands)

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39
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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40
Q

Elastic skin, inc joint mobility, inc bleeding tendency

A

Ehlers-Danlos (type V or type III collagen - auto dom or recessive)

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41
Q

Enlarged, hard L supraclavicular node

A

Virchow node (means abdominal met)

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42
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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43
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma)

OR Sezary syndrome (mycosis fungoides + malignant T cells in blood)

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44
Q

Facial muscle spasm upon tapping

A

Chvostek sign (HYPOcalcemia)

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45
Q

Fat, female, forty, fertile

A

Cholesterol gallstones

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46
Q

Fever, chills, headache, myalgia following abx for syphilis

A

Jarish-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)

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47
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles prodrome

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48
Q

Fever, night sweats, wt loss

A

B symptoms in lymphoma

49
Q

Fibrous plaques in soft tissue of penis w/ abnormal curvature

A

Peyronic disease (connective tissue disorder)

50
Q

Golden brown rings around peripheral cornea

A

Wilson Disease (Kayser-Fleischer rings from copper accumulation)

51
Q

Gout, intellectual disability, self-mutilating behavior in a oy

A

HGPRT deficiency of Lesch-Nyhan syndrome (X-linked recessive)

52
Q

Hamartomous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia

A

Peutz-Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction)

Inc risk GI cancer

53
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebroside deficiency)

54
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV of basement membranes)

55
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy Syndrome (bilateral amygdala lesion)

56
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis w/ hyperplasia of mucosal cells - “blue bloater”

57
Q

Indurated, ulcerated genital lesions (non-painful v painful)

A

Non-painful - chancre of primary syphilis b/c knock out nerves

Painful - w/ exudate is chancroid of H. ducreyi

58
Q

Infant w/ cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

**all midline problems

59
Q

Infant w/ hypoglycemia and hepatomegaly

A

Cori disease (debranching enzyme deficiency)

OR Gierke disease (glucose-6-phosphatase deficiency - more severe)

60
Q

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

A

Edward’s syndrome (trisomy 18)

61
Q

Jaundice, palpable distended and non-tender gallbladder

A

Courvoisier sign - distal malignant obstruction of biliary tree

62
Q

Bull’s eye rash

A

Erythema chronicum migrans from Ixodes tick in Lyme

63
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (ARTERY - middle meningeal)

64
Q

Male child w/ recurrent infections and no mature B cells

A

Bruton disease (X-linked agammaglobinemia)

65
Q

Mucousal bleeding and prolonged bleeding

A

Glanzmann thromboasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

66
Q

Muffled heart sounds, hypotension, distended neck veins

A

Beck’s Triad for cardiac tamponade

67
Q

Mult colon polyps, osteomas/soft tissue tumors, impacted or supernumerary teeth

A

Gardner syndrome (subtype of FAP)

68
Q

Myopathy (infantile hypertrophic cardiomyopathy) and exercise intolerance

A

Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)

69
Q

Neonate w/ arm paralysis following difficult birth

A

Erb palsy (C5-C6 upper trunk plexus injury –> waiter’s tip)

70
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

71
Q

Nystagmus, intention tremor, scanning speech, bilateral intranuclear opthalmoplegia

72
Q

Painful blue fingers and toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma, mononucleosis or CLL)

73
Q

Painful fingers/toes changing from white to blue to red w/ cold or stress

A

Raynaud (vasospasm in extremities)

Treat w/ Ca channel blockers

74
Q

Painful red, raised lesions on pads of palms and soles

A

Osler nodes - infective endocarditis / immune complex deposition

75
Q

PainLESS erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis –> septic emboli, microabscesses

76
Q

Painless jaundice

A

cancer of pancreatic head obstructing bile duct

77
Q

Palpable purpura on butt and legs, joint pain, ab pain if child, hematuria

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

78
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 - menin protein

Auto dom

Chromosome 11

79
Q

Periorbital and/or peripheral edema, proteinuria (>3.5 g/day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome in general

80
Q

Pink complexion, dyspnea, hyperventilation

A

COPD

Centriacinar = smoking

Panacinar = alpha 1 antitrypsin def

81
Q

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic Ricketts

A

Fanconi syndrome (proximal tubule dysfunction)

82
Q

Pruritic, purple, polygonal, planar papules

A

Lichen planus

83
Q

Ptosis, myosis, anhidrosis

A

Horner’s (symp chain lesion)

84
Q

Pupil accommodates but does not react

A

Neurosyphillis (Argyll Robertson pupil)

“prostitute’s pupil”

85
Q

Rapidly progressive limb weakness that ascends following GI or upper respiratory infection

A

Guillan-Barre (acute inflammatory demyelinating polyradiculopathy)

86
Q

Rash on palms and soles

A

Coxsackie A (hand, foot, mouth)

Secondary syphilis

Rocky Mt Spotted Fever (hands touch rock climb wall)

87
Q

Recurrent cold, abscesses, unusual eczema, high IgE

A

Hyper-IgE syndrome (Job syndrome - neutrophil chemotaxis abnormality)

88
Q

Red currant jelly sputum in alcoholic or diabetic

A

Klebsiella penumonia

89
Q

Red currant jelly stools

A

Acute mesenteric ischemia in adults

Intussusception in kids

90
Q

Red, itchy, swollen rash of nipples/areola

A

Paget disease of breast (sign of underlying neoplasm)

91
Q

Red urine in morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinemia (CD55- or DAF- so do not protect RBCs from complement - worse at night b/c slight acidosis)

92
Q

Bilateral RCC, hemangioblastomas, angiomatosis, pheo

A

vHL (dominant tumor suppressor gene mutation on chromosome 3)

3 letters in vHL and RCC

93
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson’s (loss of dopaminergic neurons in substantia nigra pars compacta)

94
Q

Retinal hemorrhages w/ pale centers

A

Roth spots from bacterial endocarditis

95
Q

Severe jaundice in neonate

A

Criggler-Najar (UDP enzyme mutation)

96
Q

Severe RLQ pain w/ palpation of LLQ

A

Rovsing sign - acute appendicitis

97
Q

Severe RLQ pain w/ deep tenderness

A

McBurnery sign - acute appendicitis

98
Q

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

A

Fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)

99
Q

Single palmar crease

100
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome

Infertility due to lack of sperm cilia

101
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical deficiency (ex - Addisons)

inc ACTH means also inc alpha -MSH

102
Q

Slow, progressive muscle weakness in boys

A

Becker MD (X-linked missense mutation in dystrophin so less severe than Duchennes)

103
Q

Small irregular red spots on buccal/lingual mucosa ww/ blue-white centers

A

Koplik spots of measles virus

104
Q

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

A

Condylomata lata of secondary syphilis

105
Q

Splinter hemorrhage on fingernails

A

Bacterial endocarditis

106
Q

Strawberry tongue

A

Scarlet fever (strep pyogenes)

Kawasaki

107
Q

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

A

Turner Syndrome (45, XO)

108
Q

Sudden swollen / painful big toe joint, typhii

A

Gout/podagra (hyperuricemia)

109
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (Vit C def so cannot hydroxylate proline or lysine in collagen synthesis)

110
Q

Swollen, hard, painful finger joints

A

OA - osteophytes

PIPs = Bouchard nodes

DIPs = HeberDen nodes

111
Q

Telangiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)

112
Q

Medullary thyroid tumor, parathyroid tumors, pheo

A

MEN2A (auto dom RET mutation chromosome 10)

113
Q

Medullary thyroid, pheo, ganglioneuromatosis

A

MEN2B (auto dom RET mutation - chromosome 10)

114
Q

Unilateral facial droop involving forehead

A

LMN facial nerve lesion (upper spares forehead)

115
Q

Urethritis, conjunctivitis, arthritis

A

Reactive arthritis associated w/ HLA-B27

116
Q

Vascular birthmark (port wine stain) on face

A

Nevus flammeus (benign but associated w/ Sturge - Weber syndrome)

117
Q

Vomiting blood following GI laceration

A

Mallory-Weiss syndrome (alcoholics or bullimics - inc abdominal pressure from frequency vomiting)

118
Q

Wt loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

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