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STEP Rapid Review > Classic Presentations > Flashcards

Classic Presentations 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 Abx

A

C. dif

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL R signaling)

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4
Q

Adrenal hemnorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrom (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior draw sign positive

A

ACL injury

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7
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

EPO injection

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9
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblastic and clastic activity)

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16
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurg

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17
Q

“Butterfly” facial rash and Raynaud phenomenon in young female

A

SLE

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18
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis Type I, pheochromocytoma, optic gliomas

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19
Q

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

A

McCune-Albright syndrome (mosaic G protein signaling mutation)

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to XLR frameshift mutation of dystrophin gene

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasaki (tx with IVIG and aspirin)

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22
Q

“Cherry red spots” on macula (3)

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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23
Q

Chest pain on exertion

A

Angina (stable: with moderate exerion; unstable: with minimal exertion or at rest)

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12wks after acute episode)

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25
Q

Chest pain with ST depressions in EKG (2)

A

Unstable angina (troponins -) or NSTEMI (troponins +)

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26
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

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

A

“Slapped cheeks” (erythema infectiosum/fifth disease: Parvovirus B19)

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28
Q

Chorea, dementatia, caudate degeneration

A

Huntington disease (AD CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral)

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33
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin, open or maintain with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease (pretibial))

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin B3 deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine B1 deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (AI destruction of exocrine glands)

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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43
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

EDS (Type V collagen defect, type III collagen defect seen in vascular subtype)

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
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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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat, female, forty, and fertile

A

Cholelithiasis

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49
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

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

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

54
Q

Gout, ID, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, XLR)

55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyps can cause bowel obstruction, increased cancer risk, mainly GI)

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of febur, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of febur, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

58
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

59
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

60
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

61
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

62
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

63
Q

Indurated, ulcerated genital lesion (2)

A

Nonpainful: chancre (primary syphilisk, Treponema pallidum)

Painful, with exudate: chancroid (haemophilus ducreyi)

64
Q

Infant with “cherry red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

65
Q

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

A

Patau syndrome (trisomy 13)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

67
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

68
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

69
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

70
Q

Mucosal bleeding and prolonged bleeding time

A

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

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome (subtype of FAP)

73
Q

Myopathy (infantile hypertrophic cardiomyoathy), exercise intolerance

A

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

74
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury “waiter’s tip”)

75
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrom e (pituitary infarction)

76
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrom e (pituitary infarction)

77
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

78
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (AIHA caused by Mycoplasma pneumoniae, EBV, CLL)

79
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

80
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, IC deposition)

81
Q

Painless erythematous lesions on palms/soles

A

Janeway lesions (infectivfe endocarditis, septic emboli/microabscesses)

82
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

83
Q

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

A

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

84
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

85
Q

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

A

Nephrotic syndrome

86
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar (smoking), panacinar (alpha1-antitrypsin deficiency))

87
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

88
Q

Pruritic, purple, polygonal planar papules and plaques (6 Ps)

A

Lichen planus

89
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

90
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

91
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

92
Q

Rash on palms and soles (3)

A

Coxsackie A
Secondary syphilis
RMSF

93
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

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

94
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

95
Q

Red “currant jelly” stools (2)

A

Acute mesenteric ischemia (adults), intussusception (children)

96
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

97
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

98
Q

Renal Cell Carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

99
Q

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

A

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

100
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

101
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

103
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

104
Q

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

A

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

105
Q

Single palmar crease

A

Down syndrome

106
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

107
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (e.g. Addison disease) causes increased ACTH and increased alpha-MSH production)

108
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (XL missense mutation in dystrophin, less severe than Duchenne)

109
Q

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

A

Koplik spots (meales; rubeola virus)

110
Q

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

A

Condylomata lata (secondary syphilis)

111
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

112
Q

“Strawberry tongue” (2)

A

Scarlet fever, Kawasaki disease

113
Q

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

A

Turner syndrome (45 XO)

114
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

115
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (Vitamin C deficiency, can’t hydroxylate proline/lysine for collagen synthesis)

116
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes))

117
Q

Systeolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

118
Q

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

A

Osler-Weber-Rendu syndrome

119
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD RET mut)

120
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD RET mut)

121
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

122
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

123
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA B27

124
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

125
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

126
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

127
Q

“Worse headache of my life”

A

Subarachnoid hemorrhage

STEP Rapid Review (6 decks)

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