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Rapid Review Step 1 > 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

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

Secondary to erythropoietin injection (blood doping?)

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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 (non caseating granulomas)

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9
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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10
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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11
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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12
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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13
Q

“Butterfly” facial rash and Raynaud phenomenon in young female

A

SLE

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14
Q

Cafe au lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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15
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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16
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commmonly Duchenne): X-Linked recessive deletion of dystrophin gene

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17
Q

“Cherry red spots” on macula

A

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

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18
Q

Chest pain on exertion

A

Angina (Stable: with moderate exertion; unstable: with minimal exertion; Prinzmetal’s: from vasospasm)

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19
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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20
Q

Child uses arms to stand up from squat

A

Gowers Sign (Duchenne muscular dystrophy)

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21
Q

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

A

“Slapped Cheeks” (erythema infectiosum/ Fifth disease: parvovirus B19)

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22
Q

Chorea, dementia, caudate regeneration

A

Huntington disease (autosomal dominant CAG repeat expansion; shows anticipation: repeats buildup and passed down to offspring causing disease manifestation at earlier age)

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23
Q

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

A

McArdle disease (muscle glycogen phosphorylase deficiency)

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24
Q

Cold intolerance

A

Hypothyroidism

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25
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF (medial longitudinal fasciculus); bilateral [Multiple sclerosis], unilateral [stroke]

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26
Q

Continuous “machine like” heart murmur

A

Patent ductus arteriosus (close with indomethacin; open or maintain with misoprostol)

Misoprostol (PGE1 analog) also used to treat gastric ulcers, to induce pregnancy, and for abortions (with mifepristone).

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, graves disease [pretibial myxedema])

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28
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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30
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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31
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

Remember this is B1 by the mnemonic Ber1Ber1

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32
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at the infection site)

Gram (-), treat with penicillin

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33
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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34
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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35
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect; mnemonic: ThreE D)

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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37
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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38
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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39
Q

Fat, female, forty, and fertile

A

Cholelithiasis

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40
Q

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

A

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

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41
Q

Fever, cough, conjunctivitis, coryza (rhinitis= iritation and inflammation of the mucous membrane in the nose), diffuse rash

A

Measles

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42
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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43
Q

Fibrous plaques in soft tissue of the penis

A

Peyronie disease (connective tissue disorder)

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44
Q

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

A

Lesch-Nyhan syndrome (HGPRT [Hypoxanthine-guanine phosphoribosyltransferase] deficiency, X-linked recessive)

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45
Q

Green-yellow rings around the cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

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46
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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47
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

48
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen V)

49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia, hypertonia, (+) Babinski sign

A

UMN damage (I always think of “hyper” being “higher” and thus its an “upper” motor neuron lesion)

51
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

52
Q

Hypoxemia, polycythemia, hypercapnia

A

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

53
Q

Indurated, ulcerated genital lesion

A

Nonpainful: Chancre (primary syphilis, treponema pallidum

Painful, with exudate: chancroid (Haemophilus ducreyi)

54
Q

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

A

Patau syndrome (trisomy 13)

55
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56
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)

57
Q

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

A

Edwards syndrome (Trisomy 18)

58
Q

Jaundice, palpable distended non tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

59
Q

Large rash with bullseye appearance

A

Erythema chronicum migrans from Ixodes tick bite= Lyme disease, from Borrelia burgdorferi

"FAKE a key Lyme pie"= 
Facial nerve palsy (typically bilateral)
Arthritis
Kardiac block
Erythema migrans

Treat with doxycycline, ceftriaxone

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

A

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

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

64
Q

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

A

Gardner syndrome (subtype of FAP)

65
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

66
Q

Neonate with arm paralysis following difficult birth

A

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

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

During pregnancy, pituitary increases in size, but blood flow does not; with high blood loss situation (hemorrhaging giving birth, etc) not enough blood to perfuse pituitary

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

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

70
Q

Painful blue fingers/toes, hemolytic anemia

A

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

Treat mycoplasma with macrolides or tetracyclines

71
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

72
Q

Painful, raised red lesions on pad of fingers/toes

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73
Q

Painless jaundice

A

Cancer of pancreatic head obstructing the bile duct

74
Q

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

A

Henoch-Schonlein 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 imbalance, 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 accomodates but doesn’t react

A

Argyll-Robertson pupil (neurosyphilis)

82
Q

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

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Associated with Campylobacter jejuni

83
Q

Rash on palms and soles

A

Coxsackie A, secondary 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 a neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis; damn you cskills!)

94
Q

Severe RLQ tenderness 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 (primary 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: “Becker is Better”)

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 (secondary 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, 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 on plantar scrape

A

Babinski sign positive (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= congenital, non inherited developmental anomaly of neural crest derivatives due to activating mutation of GNAQ gene)

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

Rapid Review Step 1 (6 decks)

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