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Classic Presentations Flashcards

1
Q

abdominal pain, ascites, hepatomegaly

A

Budd-Chiarie syndrome (posthepatic venous thrombosis)

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2
Q

achilles tendon xanthoma

A

Familial hypercholestrolemia (decrease LDL receptor signaling)

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3
Q

adrenal hemorrhage, hypotension, DIC

A

Wathehous-Friderichsen syndrome (meningococcemia)

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4
Q

Anterior “drawer sign” postive

A

ACL injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperfexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Back pain, fever, night sweats, wt loss

A

Pott 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 collagen defect)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (incrfease osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic reurgitation

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12
Q

Butterfly facial rash and Raynaud phenomenon in a young female

A

SLE

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13
Q

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

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious uberty, 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 occulusion

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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 infectionsum/fifth disease: parvovirus B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (automsomal 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 opthalmoplegia (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 apatient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respiration (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

Sjogren syndrome (autoimmune destruction of exocrine glands)

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33
Q

Dysphagia (esophageal webs, glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progess 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 Sezary 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

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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39
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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40
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connect tissue disorder)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

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

A

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

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43
Q

Green-yellow rings around peripheral cornea

A

Kayser-fleischer rings (copper accumulation from Wilson disease)

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44
Q

Hamartomatous GI polyp, hyperpigmentation of mouth/feet/hands

A

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

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45
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

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46
Q

Hereditary nephritis, sensorinerual hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

47
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

48
Q

Hyperreflexia, hypertonia, Babinksi sign present

A

UMN damage

49
Q

Hyporefexia, hypotonia, atrophy, fasciculation

A

LMN damage

50
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue bloater chronic bronchitis: hyperplasia of mucous cells)

51
Q

Indurated, ulcerated genital lesion

A

Nonpainful:chancer (1 syphilis, Treponema pallidum) Painful, with exudate: chancroid (H. ducreyi)

52
Q

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

A

Patau syndrome (tri 13)

53
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick Disease (genetic sphingomyelinase deficiency)

54
Q

infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Girerke disease (glucose-6-phosphatase deficiency, more severe)

55
Q

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

A

Edwards syndrome (trisomy 18)

56
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

57
Q

Large rash with bull’s eye apperance

A

Erythema chronicum migrans fromIxodes tick bite (Lyme disease: Borrelia

58
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

59
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (x-linked agammaglobulinemia)

60
Q

mucosal bleeding and prolonged bleeding time

A

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

61
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

62
Q

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

A

Gardner syndrome (subtype of FAP)

63
Q

Myopathy (infantile hypertrophic cardiomyopathy), exerciseintolerance

A

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

64
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiters tip)

65
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

66
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

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 pneumoniae, infectious mononucleosis)

69
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

70
Q

Painful raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

71
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

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 puffers (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])

77
Q

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

A

Fanconi syndrome (proximal tubular reabsorptin defect)

78
Q

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

A

Lichen planus

79
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

80
Q

Pupil accommodates but doesnt react

A

Argyll Robertson pupil (neurosyphilis)

81
Q

Rapidly progressive leg weakness that ascends folowing GI/Upper respiratory infections

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy

82
Q

RAsh on palms and soles

A

Coxsackie A, 2 syphilis, Rockey mountain spotted fever

83
Q

Recurrent colds, unusual exzema, high serum IgE

A

HyperIgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

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 on 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 tremors, rigiity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

91
Q

Retinal heorrhages 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 tendernes

A

McBurney sign (acute appendicitis)

95
Q

Short stature, increase 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 increae ACTH and increase a-MSH production)

99
Q

Slow, pregressive 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

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

102
Q

Strwwberry tongue

A

Scarlet fever, kawasaki disease, toxic shock syndrome

103
Q

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

A

Turner Syndrome (45, XO)

104
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vit C deficiency: cant hydroxylate proline/lysine for collagen synthesis

105
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

106
Q

Thyroid and parthyroid tumors, pheochromocytoma

A

MEN 2A (AD ret mutation)

107
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD ret mutation)

108
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

109
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

110
Q

Urethritis, conjuctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

111
Q

Vascular birthmark (port-wine stain)

A

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

112
Q

Vomiting blood following gastroesophageal laceration

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

113
Q

Wt loss, diarrhea, arthritis, fever, adeonpathy

A

Whipple disease (Tropheryma whipplei)

114
Q

Worst headache of my life

A

Subarachnoid hemorrhage

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