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NBME > Classic Presentations > Flashcards

Classic Presentations Flashcards

Given the clinical presentation provide the diagnosis/disease (etiology)

1
Q

Mucosal bleeding and prolonged bleeding time

A

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

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2
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autsomal dominant ret mutation)

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3
Q

Erythroedema, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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4
Q

Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

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5
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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6
Q

Hypoxemia, polycythemia, hypercapnia

A

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

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7
Q

Large rash with bullseye appearance

A

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

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8
Q

Achilles tendon xanthoma

A

Familial hypercholesterolamis (dec LDL receptor signaling)

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9
Q

Painful, raised lesions on pad of fingers/toes

A

Osler’s noder (infectious endocarditis, immune complex deposition)

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10
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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11
Q

Single palmar crease

A

Simian crease (Down syndrome)

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12
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

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14
Q

Red urine in the morning, fragile RBC’s

A

Paroxysmal nocturnal hemoglobinuria

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15
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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16
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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17
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

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18
Q

Rash on palms and soles

A

Coxsackie A, 2o syphilis, Rocky Mountain spotted fever

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19
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles/Rubeola (Morbillivirus [paramyxomirus])

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20
Q

Dark purple skin/mouth nodules

A

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

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21
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

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22
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF [medial longitudinal fasiculus]; bilateral [multiple sclerosis], unilateral [stroke])

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23
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal dominant CAG repeat expansion)

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24
Q

Swollen, hard, painful finger joints

A

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

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25
Q

Fever, night sweats, weight loss

A

B-sypmtoms (staging) of lymphoma

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26
Q

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

A

Fanconi’s syndromes (proximal tubular reabsorption defect)

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27
Q

Facil muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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28
Q

Infant w/ hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

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29
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

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30
Q

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

A

Lichen planus

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31
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

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32
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing’s sign (acute appendicitis)

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33
Q

Bone pain, bone enlargement, arthritis

A

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

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34
Q

Slow, progressive muscle weakness in boys

A

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

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35
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s diesase (X-linked agammaglobulinemia)

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36
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen syndrome (meningococcemia)

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37
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

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38
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

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39
Q

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

A

Turner syndrome (45, XO)

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40
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombus)

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41
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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42
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

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43
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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44
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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45
Q

Vascular birthmark (port-wine stain)

A

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

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46
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

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47
Q

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

A

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

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48
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

49
Q

Hamartomatous GI polyps, hyper-pigmentation of mouth/feet/hands

A

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

50
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

51
Q

Lucide interval after traumatic brain injury

A

Epidural hematoma (middle menigeal artery rupture)

52
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

53
Q

Multiple colon polyps, osetomas/soft tissue tumors, impacted/supernumary teeth

A

Gardner’s syndrome (subtype of Familial Adenomatous Polyposis [FAP])

54
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility,

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

55
Q

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

A

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

56
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

57
Q

Chest pain on exertion

A

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

58
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

59
Q

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

A

Systemic lupus erythematous

60
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

61
Q

Cutaneous/dermal edema due to connective tissue depletion

A

Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])

62
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfans syndrome (fibrillin defect)

63
Q

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

A

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

64
Q

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

A

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

65
Q

Oscillating slow/fast breathing

A

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

66
Q

Continuous “machinery” heart murmur

A

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

67
Q

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

A

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

68
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

69
Q

Weight loss, diarrhea, arthitis, fever, adenopathy

A

Whipple’s disease (Tropheryma whipplei)

70
Q

Severe RLQ with rebound tenderness

A

McBurney’s sign (appendicitis)

71
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

72
Q

“Cherry-red spot” on macula

A

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

73
Q

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

A

Patau’s syndrome (trisomy 13)

74
Q

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

A

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

75
Q

Urethritis, conjunctivits, arthritis in a males

A

Reactive arthritis (Reiter’s syndrome) associated with HLA-B27

76
Q

Resting tremor, rigidity, alkinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

77
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

78
Q

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

A

Nephrotic syndrome

79
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency

80
Q

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

A

Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)

81
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

82
Q

Hyporeflexia,hypotonia, atrophy, fasciculations

A

LMN (lower motor neuron) damage

83
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

84
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

85
Q

Calf pseudohypertrophy

A

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

86
Q

Pancreatic, pituitary, and parathyroid tumors

A

MEN 1 (autosomal dominant)

87
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

88
Q

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

A

Edward’s syndrome (trisomy 18)

89
Q

Deep labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

90
Q

Red, itchy, swollen rash of nipple/areola

A

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

91
Q

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

A

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

92
Q

Rapidly progressive leg weakness that ascends following GI/URI

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

93
Q

Green-yellow rings around peripheral of cornea

A

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

94
Q

Dysphagia (esophageal webs) glossitis, iron deficiency anemia

A

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

95
Q

Athlete w/ polycythemia

A

2ndary to erythropoietin injection

96
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (upper motor neuron [UMN] lesion)

97
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

98
Q

Cold intolerance

A

Hypothyroidism

99
Q

Indurated, ulcerated, genital lesion

A

Non-painful: chance (primary syphilis, Treponema pallidium) Painful, with exudate: chancroid (Haemophilus ducreyi)

100
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granuloma)

101
Q

Red “currant jelly” stool

A

Acute mesenteric ischemia (adults), intussusception (infants)

102
Q

Unliateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

103
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

104
Q

Neonate with arm paralysis following difficult birth

A

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

105
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN (upper motor neuron) damage

106
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

107
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

108
Q

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

A

Koplik spots (measles/rubeola [paramyxovirus])

109
Q

Elastic skin, hyper-mobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

110
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (1o adrenocortical insufficiency causes both increased ACTH and alpha-MSH production)

111
Q

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

A

“Slapped checks” (erythema infectiosum/fifth disease: parvovirus B19)

112
Q

Pink complexion, dyspnea, hyperventilation

A

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

113
Q

Painful blue fingers/toes, hemolytic anemia

A

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

114
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

115
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

116
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (2o syphilis)

117
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

118
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation)

NBME (5 decks)

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