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USMLE STEP 1 > Rapid Review: Classic Presentations > Flashcards

Rapid Review: 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 (↓ LDL Receptor Signaling)

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3
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (Meningococcemia)

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4
Q

Arachnodactyly, Lens Dislocation, Aortic Dissection, Hyperflexible Joints

A

Marfan Syndrome (Fibrillin Defect)

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5
Q

Athlete With Polycythemia

A

2° to Erythropoietin Injection

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6
Q

Back Pain, Fever, Night Sweats, Weight Loss

A

Pott Disease (Vertebral Tuberculosis)

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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 (↑ Osteoblastic & 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 & Raynaud Phenomenon In A Young Female

A

Systemic Lupus Erythematosus

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13
Q

Cafe-au-Lait Spots, Lisch Nodules (Iris Hamartoma),Cutaneous Neurofibromas, Pheochromocytomas, Optic Gliomas

A

Neurofibromatosis Type I (+ Pheochromocytoma, Optic Gliomas)

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14
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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15
Q

Calf Pseudohypertrophy

A

Muscular Dystrophy (Most Commonly Duchenne, X-linked Recessive Frameshift Mutation Of Dystrophin Gene)

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16
Q

“Cherry-Red Spot” 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 Or At Rest)

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18
Q

Chest Pain, Pericardia! Effusion / Friction Rub, Persistent Fever Following MI

A

Dressler Syndrome (Autoimmune-Mediated Post- MI Fibrinous Pericarditis; 2-12 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 Bl9)

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21
Q

Chorea, Dementia, Caudate Degeneration

A

Huntington’s Disease (Autosomal-Dominant CAG Repeat Expansion)

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22
Q

Chronic Exercise Intolerance With Myalgia, Fatigue, Painful Cramps, Myoglobinuria

A

McArdle’s Disease (Skeletal Muscle Glycogen Phosphorylase Deficiency)

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23
Q

Cold Intolerance

A

Hypothyroidism

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24
Q

Conjugate Horizontal 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 PGE Analogs; 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’s Sarcoma (Usually AIDS Patients [MSM]: Associated With HHV- 8)

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28
Q

Deep, Labored Breathing/Hyperventilation

A

Kussmaul Breathing (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’s 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, ↑ Bleeding Tendency

A

Ehlers-Danlos Syndrome (Type IV Collagen Defect, Type III Collagen Defect Seen In Vascular Subtype Of ED)

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35
Q

Enlarged, Hard Left Supraclavicular Node

A

Virchow’s 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’s Sign (Hypocalcemia)

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38
Q

Fat, Female, Forty & 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 (Rubeola)

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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’s Disease (Connective Tissue Disorder)

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43
Q

Golden Brown Rings Around Peripheral Cornea

A

Kayser-Fleischer Rings (Copper Accumulation From Wilson’s Disease)

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44
Q

Gout, Mental Retardation, Self-Mutilating Behavior In A Boy

A

Lesch-Nyhan Syndrome (HGPRT Deficiency, X-Linked Recessive)

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45
Q

Hamartomatous GI polyps, Hyperpigmentation Of Mouth / Feet / Hands / Genitalia

A

Peutz-Jeghers Syndrome (Inherited, Benign Polyposis Can Cause Bowe0l Obstruction; ↑ Cancer Risk, Mainly GI)

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46
Q

Hepatosplenomegaly, Pancytopenia, Osteoporosis, Necrosis Of Femur, Bone Crises

A

Gaucher’s Disease (Glucocerebrosidase Deficiency)

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47
Q

Hereditary Nephritis, Sensorineural Hearing Loss, Cataracts

A

Alport Syndrome (Mutation In α Chain Of Collagen IV)

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48
Q

Hyperphagia, Hypersexuality, Hyperorality, Hyperdocility

A

Klüver-Bucy Syndrome (Bilateral Amygdala Lesion)

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49
Q

Hyperreflexia, Hypertonia, Babinski Sign Present

A

UMN Damage

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50
Q

Hyporeflexia, Hypotonia, Atrophy, Fasciculations

A

LMN Damage

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51
Q

Hypoxemia, Polycythemia, Hypercapnia

A

” Blue Bloater” (Chronic Bronchitis: Hyperplasia Of Mucous Cells)

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52
Q

Indurated, Ulcerated Genital Lesion

A

Non-painful: 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’s Syndrome (Trisomy 13)

54
Q

Infant With Failure To Thrive, Hepatosplenomegaly & Neurodegeneration

A

Niemann-Pick Disease (Genetic Sphingomyelinase Deficiency)

55
Q

Infant With Hypoglycemia, Hepatomegaly

A

Cori’s Disease (Debranching Enzyme Deficiency) Or Von Gierke Disease (Glucose-6-Phosphatase Deficiency, More Severe)

56
Q

Infant With Microcephaly, Rocker-Bottom Feet, Clenched Hands & Structural Heart Defect

A

Edwards’ Syndrome (Trisomy 18)

57
Q

Jaundice, Palpable Distended Non-tender Gallbladder

A

Courvoisier’s 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 & Prolonged Bleeding Time

A

Glanzmann’s Thrombasthenia (Defect In Platelet Aggregation Due To Lack Of Gpllb/IIIa)

62
Q

Muffled Heart Sounds, Distended Neck Veins, Hypotension

A

Beck’s Triad Of Cardiac Tamponade

63
Q

Multiple Colon Polyps, Osteomas/Soft Tissue Tumors, Impacted/Supernumerary Teeth

A

Gardner’s Syndrome (Subtype Of FAP)

64
Q

Myopathy (Infantile Hypertrophic Cardiomyopathy), Exercise Intolerance

A

Pompe’s 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’s 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, CLL)

70
Q

Painful Fingers / Toes Changing Color From Blue To White To Red With Cold Or Stress

A

Raynaud’s Phenomenon (Vasospasm In Extremities)

71
Q

Painful, Raised Red Lesions On Pad Of Fingers / Toes

A

Osler’s Node (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 & Kidneys)

75
Q

Pancreatic, Pituitary, Parathyroid Tumors

A

MEN l (Autosomal Dominant)

76
Q

Periorbital & / 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 (Multiple Combined Dysfunction Of The Proximal Tubular Reabsorption)

79
Q

Pruritic, Purple, Polygonal Planar Papules & Plaques (6 P’s)

A

Lichen Planus

80
Q

Ptosis, Miosis, Anhidrosis

A

Horner’s 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-Barre Syndrome (Acute Inflammatory Demyelinating Polyradiculopathy Subtype)

83
Q

Rash On Palms And Soles

A

Coxsackie A, Secondary Syphilis, Rocky Mountain Spotted Fever

84
Q

Recurrent Cold (Noninflamed) Abscesses, 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 Pneumonia

86
Q

Red “Currant Jelly” Stools

A

Acute Mesenteric Ischemia (Adults), Intussusception (Infants)

87
Q

Red, Itchy, Swollen Rash Of Nipple / Areola

A

Paget’s Disease Of The Breast (Represents 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, Shuffling Gait

A

Parkinson Disease (Loss Of Dopaminergic neurons In Substantia Nigra Pars Compacta)

91
Q

Retinal Hemorrhages With Pale Centers

A

Roth’s 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’s Sign (Acute Appendicitis)

94
Q

Severe RLQ Pain With Rebound Tenderness

A

McBurney’s Sign (Appendicitis)

95
Q

Short Stature, Cafe-au-Lait Spots, Thumb / Radial Defects, ↑ Incidence Of Tumors / Leukemia, Aplastic Anemia

A

Fanconi’s Anemia (Genetic Loss Of DNA Crosslink Repair; Often Progresses To AML)

96
Q

Single Palmar Crease

A

Down Syndrome (Simian Crease)

97
Q

Situs Inversus, Chronic Sinusitis, Bronchiectasis, Infertility

A

Kartagener’s Syndrome (Dynein Arm Defect Affecting Cilia)

98
Q

Skin Hyperpigmentation, Hypotension, Fatigue

A

Primary Adrenocortical Insufficiency (e.g., Addison Disease) Causes ↑ ACTH & ↑ α-MSH Production

99
Q

Slow, Progressive Muscle Weakness In Boys

A

Becker’s Muscular Dystrophy (X-Linked Missense Mutation In Dystrophin; Less Severe Than Duchenne’s)

100
Q

Small, Irregular Reel 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’s nodes], DIP (Heberden’s nodes])

108
Q

Systolic Ejection Murmur (Crescendo-Decrescendo)

A

Aortic Valve Stenosis

109
Q

Thyroid & 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

LMN Facial Nerve (CN VII) Palsy; UMN Lesions Spare The Forehead

113
Q

Urethritis, Conjunctivitis, Arthritis In A Male

A

Reactive Arthritis Associated With HLA-B27

114
Q

Vascular Birthmark (Port-Wine Stain) Of The Face

A

Nevus Flammeus (Hemangioma) Benign, But Associated With Sturge-Weber Syndrome

115
Q

Vomiting Blood Following Gastroesophageal Lacerations

A

Mallory-Weiss Syndrome (Alcoholic & Bulimic Patients)

116
Q

Weight Loss, Diarrhea, Arthritis, Fever, Adenopathy

A

Whipple’s Disease (Tropheryma whipplei)

117
Q

“Worst Headache Of My Life”

A

Subarachnoid Hemorrhage

118
Q

Abdominal Pain, Diarrhea, Leukocytosis, Recent Antibiotic Use

A

Clostridium difficile Infection

119
Q

Anaphylaxis Following Blood Transfusion

A

IgA Deficiency

120
Q

Anterior “Drawer Sign” +

A

Anterior Cruciate Ligament Injury

121
Q

Bilateral Acoustic Schwannomas

A

Neurofibromatosis Type 2

122
Q

Black Eschar On Face Of Patient With Diabetic Ketoacidosis

A

Mucor Or Rhizopus Fungal Infection

123
Q

Cervical Lymphadenopathy, Desquamating Rash, Coronary Aneurysms, Red Conjuctivae And Tongue

A

Kawasaki Disease (Treat With IVIG And Aspirin)

124
Q

Chest Pain With ST Depressions On EKG

A

Unstable Angina (Troponins -) or NSTEMI (Troponins +)

125
Q

Chorioretinitis, Hydrocephalus, Intracranial Calcifications

A

Congenital Toxoplasmosis

126
Q

Cutaneous Flushing, Diarrhea, Bronchospasm

A

Carcinoid Syndrome (Right-Sided Cardiac Valvular Lesions, ↑ 5-HIAA)

127
Q

Episodic Vertigo, Tinnitus, Hearing Loss

A

Meniere Disease

128
Q

Teleangiectasis, Recurrent Epistaxis, Skin Discoloration, Arteriovenous Malformations, GI Bleeding, Hematuria

A

Osler-Weber-Rendu Syndrome

USMLE STEP 1 (5 decks)

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