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Classic presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari 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

Anterior “drawer sign” +

A

Anterior cruciate ligament injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

2° to erythropoietin injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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8
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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9
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (^ 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 phenomenon in a young female

A

Systemic lupus erythematosus

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13
Q

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

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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14
Q

Café-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): X-linked recessive deletion of dystrophin gene

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16
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), 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, persistent fever following MI

A

Dressler 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

Gowers 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 infectiosum/fifth disease: parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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22
Q

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

A

McArdle 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 ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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25
Q

Continuous “machine-like” 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, Graves disease [pretibial])

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27
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (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

Sjögren 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

Ehlers-Danlos syndrome (type III collagen defect)

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

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37
Q

Facial muscle spasm upon tapping

A

Chvostek 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

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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 disease (connective tissue disorder)

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43
Q

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

A

Lesch-Nyhan 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 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; ^ cancer risk, mainly GI)

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-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

Hypoxemia, polycythemia, hypercapnia

A

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

52
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1° syphilis, Treponema pallidum); Painful, with exudate: chancroid (Haemophilus ducreyi)

53
Q

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

A

Patau 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 disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

56
Q

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

A

Edwards syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

58
Q

Large rash with bull’s-eye appearance

A

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

59
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

60
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

63
Q

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

A

Gardner syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

65
Q

Neonate with arm paralysis following difficult birth

A

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

66
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

67
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

68
Q

Oscillating slow/fast breathing

A

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

69
Q

Painful blue fingers/toes, hemolytic anemia

A

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

70
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

71
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

74
Q

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

A

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

75
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

76
Q

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

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

78
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

79
Q

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

A

Lichen planus

80
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

81
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

82
Q

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

A

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

84
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

85
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

87
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

88
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

89
Q

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

A

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

90
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

91
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

92
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

94
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

95
Q

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

A

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

96
Q

Single palmar crease

A

Down syndrome

97
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

98
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison disease (1° adrenocortical insufficiency causes ^ ACTH and ^ α-MSH production)

99
Q

Slow, progressive muscle weakness in boys

A

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

100
Q

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

A

Koplik spots (measles; rubeola virus)

101
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (2° syphilis)

102
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

103
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

104
Q

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

A

Turner syndrome (45,XO)

105
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

106
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

107
Q

Swollen, hard, painful finger joints

A

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

108
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

109
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

110
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

111
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

112
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

113
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

114
Q

Vascular birthmark (port-wine stain)

A

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

115
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

117
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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