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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

Abdominal pian, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” positive

A

ACL injury

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7
Q

Arachnodactyly, lens dislocation, (upward), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to EPO injection

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9
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

NF2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating ganulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A

Osteogenesis Imperfects (type I collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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16
Q

Bounding pulses, wide pulse pressure, diastolic hear murmur, head bobbing

A

Aortic regurgitation

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17
Q

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

A

Systemic lupus erythematosus

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18
Q

Cafe-au-lait spots, Lisch nodule (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF1

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19
Q

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

A

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

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

“Cherry-red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

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25
Q

Chest pain with ST depression on EKG

A

Unstable angina ( - troponins) or NSTEMI ( + troponins)

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26
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gower’s sign)

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27
Q

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

A

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

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33
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in patients with AIDS

A

Kaposi sarcoma, associated with HHV-8

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37
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellegra (niacin [vitamin b3] deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin b1] deficiency)

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40
Q

Dog or cat bit resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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43
Q

Elastic skin, hypermobility of joints ,increased bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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47
Q

Facial muscle spasm upon tapping

A

Chvostek signe (hypocalcemia)

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48
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

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49
Q

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

A

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

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyroni’s disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

54
Q

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

A

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

55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

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

56
Q

Heptosplenomegaly, pancytopenia osteoporosis, aseptic necrosis of femoral head, bone crisis

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)

62
Q

Indurated, ulcerated genital lesion

A

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

63
Q

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

A

Patau syndrome (trisomy 13)

64
Q

Infant with hypoglycemia, hepatomegaly

A

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

65
Q

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

A

Edward’s Syndrome (trisomy 18)

66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

Large rash with bull’s-eye appearance

A

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

68
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

69
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

70
Q

Mucosal bleeding and prolonged bleeding time

A

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

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome (subtype of FAP)

73
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

74
Q

Neonate with arm paralysis following difficult birth

A

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

75
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

77
Q

Painful blue fingers/toes, hemolytic anemia

A

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

78
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

80
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

Painless jaundice

A

Caner of the pancreatic head obstructing the bile duct

82
Q

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

A

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

83
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

84
Q

Periorbital an/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

85
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency

86
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

87
Q

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

A

Lichen planus

88
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

Pupil accomodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

90
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

Rash on palms and soles

A

Cocksackie A, secondary syphilis, Rocky Mountain spotted fever

92
Q

Recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE

A

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

93
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiells pneumoniae pneumonia

94
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (children)

95
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

96
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

97
Q

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

A

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

98
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

99
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis

100
Q

Sever jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

101
Q

Sever RLQ pain with palpation of LLQ

A

Rovsing sige (acute appendicitis)

102
Q

Sever RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

103
Q

Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

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

104
Q

Single palmar crease

A

Down syndrome

105
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener Syndrome (dynein arm defect affecting cilia)

106
Q

Skin hyperpigementation, hypotension, fatigue

A

Primary adrenocortical insufficiency (eg, Addison disease) causes increased ACTH and increased α-MSH production

107
Q

Slow, progressive muscle weakness in boys

A

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

108
Q

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

A

Koplik spots (measles [rubeola] virus)

109
Q

Smooth, moist, painless, war-like lesion on genitals

A

Condylomata late (secondary syphilis)

110
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

111
Q

“strawberry tongue”

A

Scarlet fever, Kawasaki disease

112
Q

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

A

Turner syndrome (45,XO)

113
Q

Sudden swollen/painful big tow joint, tophi

A

Gour/podagra (hyperuricemia)

114
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

115
Q

Swollen, hard, painful finger joints

A

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

116
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

117
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome

118
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (Autosoma dominant RET mutation)

119
Q

THyroid tumors, pheochrommocytoma, ganglioneuromatosis

A

MEN2B (Autosoma dominant RET mutation)

120
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

121
Q

Unilateral facial dropping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

122
Q

Urethritis, conjunctivitis, arthritis in male

A

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

123
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

124
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

125
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

126
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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