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Step 1 Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiarri syndrome (posthepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Secondary to erythropoietin 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 adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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8
Q

Blue sclera

A

Osteogenesis imperfecta (type I collage defect, problems with forming triple helix)

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9
Q

Bluish line of gingiva

A

Burton’s line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (increased osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

“Butterfly” facial rash and Raynaud’s phenomenon in a young female

A

Systemic lupus erythematosus

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13
Q

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

A

Neurofibromatosis type I (plus pheochromocytoma, optic gliomas)

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14
Q

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

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s: X-linked recessive deletion of dystrophin gene)

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16
Q

“Cherry-red spot” on macula

A

Tay-Sachs (ganglioside accumulation - NO hepatosplenomegaly) or Niemann-Pick (sphingomyelin accumualtion - hepatosplenomegaly), central retinal artery occlusion

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17
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion)

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18
Q

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

A

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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19
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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20
Q

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

A

“Slapped cheeks” (erythema infectious/fifth disease: parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal-dominnat CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; bilateral=MS, unilateral=stroke)

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25
Q

Continuous “machinery” heart murmur

A

PDA (close with indomethacin; open or maintain with misoprostol)

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Grave’s diseaae [pretibila])

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patient [MSM]: associated with HHV-8)

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellegra (niacin [vitamin B3] deficiency)

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30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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34
Q

Elastic skin, hypermobility of joints

A

Elhers-Danlos syndrome (type III collagen defect, problems with cross-linking)

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

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39
Q

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

A

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

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

Gout, mental retardation, self-mutilating behavior in a boy

A

Lesch-Nyan syndrome (HGPRT deficiency, X-linked recessive)

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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

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

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of type IV collagen)

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48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

Hypoexemia, polycythemia, hypercapnia

A

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

52
Q

Indurated, ulcerated genital lesions

A

Nonpainful: chancre (primary syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (deb ranching enzyme deficiency)

56
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

57
Q

Large rash with bull’s eye appearance

A

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

58
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery)

59
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

60
Q

Mucosal bleeding and prolonged bleeding time

A

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

61
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

62
Q

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

A

Gardner’s syndrome (subtype of FAP)

63
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

64
Q

Neonate with arm paralysis following difficult birth

A

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

65
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

66
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

67
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

68
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)

69
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

70
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler’s nodes (infective endocarditis, immune complex deposition)

71
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

72
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

73
Q

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

A

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

74
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

75
Q

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

A

Nephrotic syndrome

76
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha-antitrypsin deficiency])

77
Q

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

A

Edward’s syndrome (trisomy 18)

78
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament injury

80
Q

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrom (Job’s syndrome: neutrophil chemotaxis abnormality)

86
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (represents underlying neoplasm)

89
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

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

A

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

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

96
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia (genetic loss of DNA cross link repay; often progresses to AML)

97
Q

Single palmar crease

A

Simian crease (Down syndrome)

98
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

99
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

100
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X-linked missense mutation dystrophin; less severe than Duchenne’s)

101
Q

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

A

Koplik spots (measles; rubeola virus)

102
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

103
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

104
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

105
Q

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

A

Turnder syndrome (45,XO)

106
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

107
Q

Swollen gums, mucosal bleeding, poor wound heeling, spots on skin

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

108
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])

109
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

110
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

111
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

112
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

114
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive arthritis associated with HLA-B27

115
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome)

116
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whipplei)

118
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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