Rapid Review: Classic Presentations Flashcards
1
Q
Abdominal Pain, Ascites, Hepatomegaly
A
Budd-Chiari Syndrome (Posthepatic Venous Thrombosis)
2
Q
Achilles Tendon Xanthoma
A
Familial Hypercholesterolemia (↓ LDL Receptor Signaling)
3
Q
Adrenal Hemorrhage, Hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (Meningococcemia)
4
Q
Arachnodactyly, Lens Dislocation, Aortic Dissection, Hyperflexible Joints
A
Marfan Syndrome (Fibrillin Defect)
5
Q
Athlete With Polycythemia
A
2° to Erythropoietin Injection
6
Q
Back Pain, Fever, Night Sweats, Weight Loss
A
Pott Disease (Vertebral Tuberculosis)
7
Q
Bilateral Hilar Adenopathy, Uveitis
A
Sarcoidosis (Noncaseating Granulomas)
8
Q
Blue Sclera
A
Osteogenesis Imperfecta (Type I Collagen Defect)
9
Q
Bluish Line On Gingiva
A
Burton Line (Lead Poisoning)
10
Q
Bone Pain, Bone enlargement, Arthritis
A
Paget Disease Of Bone (↑ Osteoblastic & Osteoclastic Activity)
11
Q
Bounding Pulses, Diastolic Heart Murmur, Head Bobbing
A
Aortic Regurgitation
12
Q
“Butterfly” Facial Rash & Raynaud Phenomenon In A Young Female
A
Systemic Lupus Erythematosus
13
Q
Cafe-au-Lait Spots, Lisch Nodules (Iris Hamartoma),Cutaneous Neurofibromas, Pheochromocytomas, Optic Gliomas
A
Neurofibromatosis Type I (+ Pheochromocytoma, Optic Gliomas)
14
Q
Cafe-au-Lait Spots (Unilateral), Polyostotic Fibrous Dysplasia, Precocious Puberty, Multiple Endocrine Abnormalities
A
McCune-Albright Syndrome (Mosaic G-Protein Signaling Mutation)
15
Q
Calf Pseudohypertrophy
A
Muscular Dystrophy (Most Commonly Duchenne, X-linked Recessive Frameshift Mutation Of Dystrophin Gene)
16
Q
“Cherry-Red Spot” On Macula
A
Tay-Sachs (Ganglioside Accumulation) Or Niemann-Pick (Sphingomyelin Accumulation), Central Retinal Artery Occlusion
17
Q
Chest Pain On Exertion
A
Angina (Stable: With Moderate Exertion; Unstable: With Minimal Exertion Or At Rest)
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)
19
Q
Child Uses Arms To Stand Up From Squat
A
Gowers Sign (Duchenne Muscular Dystrophy)
20
Q
Child With Fever Later Develops Red Rash On Face That Spreads To Body
A
“Slapped Cheeks” (Erythema Infectiosum/Fifth Disease: Parvovirus Bl9)
21
Q
Chorea, Dementia, Caudate Degeneration
A
Huntington’s Disease (Autosomal-Dominant CAG Repeat Expansion)
22
Q
Chronic Exercise Intolerance With Myalgia, Fatigue, Painful Cramps, Myoglobinuria
A
McArdle’s Disease (Skeletal Muscle Glycogen Phosphorylase Deficiency)
23
Q
Cold Intolerance
A
Hypothyroidism
24
Q
Conjugate Horizontal Gaze Palsy, Horizontal Diplopia
A
Internuclear Ophthalmoplegia (Damage To MLF; Bilateral [Multiple Sclerosis], Unilateral [Stroke])
25
Continuous "Machine-Like" Heart Murmur
PDA (Close With Indomethacin; Open Or Maintain With PGE Analogs; Misoprostol)
26
Cutaneous/Dermal Edema Due To Connective Tissue Deposition
Myxedema (Caused By Hypothyroidism, Graves Disease [Pretibial])
27
Dark Purple Skin/Mouth Nodules In A Patient With AIDS
Kaposi's Sarcoma (Usually AIDS Patients [MSM]: Associated With HHV- 8)
28
Deep, Labored Breathing/Hyperventilation
Kussmaul Breathing (Diabetic Ketoacidosis)
29
Dermatitis, Dementia, Diarrhea
Pellagra (Niacin [Vitamin B3] Deficiency)
30
Dilated Cardiomyopathy, Edema, Alcoholism Or Malnutrition
Wet Beriberi (Thiamine [Vitamin B1 Deficiency)
31
Dog Or Cat Bite Resulting In Infection
Pasteurella Multocida (Cellulitis At Inoculation Site)
32
Dry Eyes, Dry Mouth, Arthritis
Sjogren's Syndrome (Autoimmune Destruction Of Exocrine Glands)
33
Dysphagia (Esophageal Webs), Glossitis, Iron Deficiency Anemia
Plummer-Vinson Syndrome (May Progress To Esophageal Squamous Cell Carcinoma)
34
Elastic Skin, Hypermobility Of Joints, ↑ Bleeding Tendency
Ehlers-Danlos Syndrome (Type IV Collagen Defect, Type III Collagen Defect Seen In Vascular Subtype Of ED)
35
Enlarged, Hard Left Supraclavicular Node
Virchow's Node (Abdominal Metastasis)
36
Erythroderma, Lymphadenopathy, Hepatosplenomegaly, Atypical T Cells
Mycosis Fungoides (Cutaneous T-Cell Lymphoma) Or Sezary Syndrome (Mycosis Fungoides + Malignant T Cells In Blood)
37
Facial Muscle Spasm Upon Tapping
Chvostek's Sign (Hypocalcemia)
38
Fat, Female, Forty & Fertile
Cholelithiasis (Gallstones)
39
Fever, Chills, Headache, Myalgia Following Antibiotic Treatment For Syphilis
Jarisch-Herxheimer Reaction (Rapid Lysis Of Spirochetes Results In Toxin Release)
40
Fever, Cough, Conjunctivitis, Coryza, Diffuse Rash
Measles (Rubeola)
41
Fever, Night Sweats, Weight Loss
B Symptoms (Staging) Of Lymphoma
42
Fibrous Plaques In Soft tissue Of Penis
Peyronie's Disease (Connective Tissue Disorder)
43
Golden Brown Rings Around Peripheral Cornea
Kayser-Fleischer Rings (Copper Accumulation From Wilson's Disease)
44
Gout, Mental Retardation, Self-Mutilating Behavior In A Boy
Lesch-Nyhan Syndrome (HGPRT Deficiency, X-Linked Recessive)
45
Hamartomatous GI polyps, Hyperpigmentation Of Mouth / Feet / Hands / Genitalia
Peutz-Jeghers Syndrome (Inherited, Benign Polyposis Can Cause Bowe0l Obstruction; ↑ Cancer Risk, Mainly GI)
46
Hepatosplenomegaly, Pancytopenia, Osteoporosis, Necrosis Of Femur, Bone Crises
Gaucher's Disease (Glucocerebrosidase Deficiency)
47
Hereditary Nephritis, Sensorineural Hearing Loss, Cataracts
Alport Syndrome (Mutation In α Chain Of Collagen IV)
48
Hyperphagia, Hypersexuality, Hyperorality, Hyperdocility
Klüver-Bucy Syndrome (Bilateral Amygdala Lesion)
49
Hyperreflexia, Hypertonia, Babinski Sign Present
UMN Damage
50
Hyporeflexia, Hypotonia, Atrophy, Fasciculations
LMN Damage
51
Hypoxemia, Polycythemia, Hypercapnia
" Blue Bloater" (Chronic Bronchitis: Hyperplasia Of Mucous Cells)
52
Indurated, Ulcerated Genital Lesion
Non-painful: Chancre (1 ° Syphilis , Treponema pallidum) Painful, With Exudate: Chancroid (Haemophilus ducreyi)
53
Infant With Cleft Lip/Palate, Microcephaly Or Holoprosencephaly, Polydactyly, Cutis Aplasia
Patau's Syndrome (Trisomy 13)
54
Infant With Failure To Thrive, Hepatosplenomegaly & Neurodegeneration
Niemann-Pick Disease (Genetic Sphingomyelinase Deficiency)
55
Infant With Hypoglycemia, Hepatomegaly
Cori's Disease (Debranching Enzyme Deficiency) Or Von Gierke Disease (Glucose-6-Phosphatase Deficiency, More Severe)
56
Infant With Microcephaly, Rocker-Bottom Feet, Clenched Hands & Structural Heart Defect
Edwards' Syndrome (Trisomy 18)
57
Jaundice, Palpable Distended Non-tender Gallbladder
Courvoisier's Sign (Distal Obstruction Of Biliary Tree)
58
Large Rash With Bull's-Eye Appearance
Erythema Chronicum Migrans From Ixodes Tick Bite (Lyme Disease: Borrelia)
59
Lucid Interval After Traumatic Brain Injury
Epidural Hematoma (Middle Meningeal Artery Rupture)
60
Male Child, Recurrent Infections, No Mature B Cells
Bruton Disease (X-Linked Agammaglobulinemia)
61
Mucosal Bleeding & Prolonged Bleeding Time
Glanzmann's Thrombasthenia (Defect In Platelet Aggregation Due To Lack Of Gpllb/IIIa)
62
Muffled Heart Sounds, Distended Neck Veins, Hypotension
Beck's Triad Of Cardiac Tamponade
63
Multiple Colon Polyps, Osteomas/Soft Tissue Tumors, Impacted/Supernumerary Teeth
Gardner's Syndrome (Subtype Of FAP)
64
Myopathy (Infantile Hypertrophic Cardiomyopathy), Exercise Intolerance
Pompe's Disease (Lysosomal α-1,4-Glucosidase Deficiency)
65
Neonate With Arm Paralysis Following Difficult Birth
Erb-Duchenne Palsy (Superior Trunk [C5-C6] Brachial Plexus Injury: "Waiter's Tip")
66
No Lactation Postpartum, Absent Menstruation, Cold Intolerance
Sheehan's Syndrome (Pituitary Infarction)
67
Nystagmus, Intention Tremor, Scanning Speech, Bilateral Internuclear Ophthalmoplegia
Multiple Sclerosis
68
Oscillating Slow / Fast Breathing
Cheyne-Stokes Respirations (Central Apnea In CHF or ↑ Intracranial Pressure)
69
Painful Blue Fingers / Toes, Hemolytic Anemia
Cold Agglutinin Disease (Autoimmune Hemolytic Anemia Caused By Mycoplasma pneumoniae, Infectious Mononucleosis, CLL)
70
Painful Fingers / Toes Changing Color From Blue To White To Red With Cold Or Stress
Raynaud's Phenomenon (Vasospasm In Extremities)
71
Painful, Raised Red Lesions On Pad Of Fingers / Toes
Osler's Node (Infective Endocarditis, Immune Complex Deposition)
72
Painless Erythematous Lesions On Palms And Soles
Janeway Lesions (Infective Endocarditis, Septic Emboli / Microabscesses)
73
Painless Jaundice
Cancer Of The Pancreatic Head Obstructing Bile Duct
74
Palpable Purpura On Buttocks / Legs, Joint Pain, Abdominal Pain (Child), Hematuria
Henoch-Schönlein Purpura (IgA Vasculitis Affecting Skin & Kidneys)
75
Pancreatic, Pituitary, Parathyroid Tumors
MEN l (Autosomal Dominant)
76
Periorbital & / Or Peripheral Edema, Proteinuria, Hypoalbuminemia, Hypercholesterolemia
Nephrotic Syndrome
77
Pink Complexion, Dyspnea, Hyperventilation
"Pink Puffer" (Emphysema: Centriacinar [Smoking], Panacinar [α1-Antitrypsin Deficiency])
78
Polyuria, Renal Tubular Acidosis Type II, Growth Failure, Electrolyte Imbalances, Hypophosphatemic Rickets
Fanconi Syndrome (Multiple Combined Dysfunction Of The Proximal Tubular Reabsorption)
79
Pruritic, Purple, Polygonal Planar Papules & Plaques (6 P's)
Lichen Planus
80
Ptosis, Miosis, Anhidrosis
Horner's Syndrome (Sympathetic Chain Lesion)
81
Pupil Accommodates But Doesn't React
Argyll Robertson Pupil (Neurosyphilis)
82
Rapidly Progressive Leg Weakness That Ascends Following GI/Upper Respiratory Infection
Guillain-Barre Syndrome (Acute Inflammatory Demyelinating Polyradiculopathy Subtype)
83
Rash On Palms And Soles
Coxsackie A, Secondary Syphilis, Rocky Mountain Spotted Fever
84
Recurrent Cold (Noninflamed) Abscesses, Unusual Eczema, High Serum IgE
Hyper-IgE Syndrome (Job Syndrome: Neutrophil Chemotaxis Abnormality)
85
Red "Currant Jelly" Sputum In Alcoholic Or Diabetic Patients
Klebsiella pneumoniae Pneumonia
86
Red "Currant Jelly" Stools
Acute Mesenteric Ischemia (Adults), Intussusception (Infants)
87
Red, Itchy, Swollen Rash Of Nipple / Areola
Paget's Disease Of The Breast (Represents Underlying Neoplasm)
88
Red Urine In The Morning, Fragile RBCs
Paroxysmal Nocturnal Hemoglobinuria
89
Renal Cell Carcinoma (Bilateral), Hemangioblastomas, Angiomatosis, Pheochromocytoma
von Hippel-Lindau Disease (Dominant Tumor Suppressor Gene Mutation)
90
Resting Tremor, Rigidity, Akinesia, Postural Instability, Shuffling Gait
Parkinson Disease (Loss Of Dopaminergic neurons In Substantia Nigra Pars Compacta)
91
Retinal Hemorrhages With Pale Centers
Roth's Spots (Bacterial Endocarditis)
92
Severe Jaundice In Neonate
Crigler- Najjar Syndrome (Congenital Unconjugated Hyperbilirubinemia)
93
Severe RLQ Pain With Palpation Of LLQ
Rovsing's Sign (Acute Appendicitis)
94
Severe RLQ Pain With Rebound Tenderness
McBurney's Sign (Appendicitis)
95
Short Stature, Cafe-au-Lait Spots, Thumb / Radial Defects, ↑ Incidence Of Tumors / Leukemia, Aplastic Anemia
Fanconi's Anemia (Genetic Loss Of DNA Crosslink Repair; Often Progresses To AML)
96
Single Palmar Crease
Down Syndrome (Simian Crease)
97
Situs Inversus, Chronic Sinusitis, Bronchiectasis, Infertility
Kartagener's Syndrome (Dynein Arm Defect Affecting Cilia)
98
Skin Hyperpigmentation, Hypotension, Fatigue
Primary Adrenocortical Insufficiency (e.g., Addison Disease) Causes ↑ ACTH & ↑ α-MSH Production
99
Slow, Progressive Muscle Weakness In Boys
Becker's Muscular Dystrophy (X-Linked Missense Mutation In Dystrophin; Less Severe Than Duchenne's)
100
Small, Irregular Reel Spots On Buccal / Lingual Mucosa With Blue-white Centers
Koplik Spots (Measles; Rubeola Virus)
101
Smooth, Flat, Moist, Painless White Lesions On Genitals
Condylomata lata (2° Syphilis)
102
Splinter Hemorrhages In Fingernails
Bacterial Endocarditis
103
"Strawberry Tongue"
Scarlet Fever, Kawasaki Disease, Toxic Shock Syndrome
104
Streak Ovaries, Congenital Heart Disease, Horseshoe Kidney, Cystic Hygroma At Birth, Short Stature, Webbed Neck, Lymphedema
Turner Syndrome (45, XO)
105
Sudden Swollen / Painful Big Toe Joint, Tophi
Gout / Podagra (Hyperuricemia)
106
Swollen Gums, Mucosal Bleeding, Poor Wound Healing, Petechiae
Scurvy (Vitamin C Deficiency: Can't Hydroxylate Proline / Lysine For Collagen Synthesis)
107
Swollen, Hard, Painful Finger Joints
Osteoarthritis (Osteophytes on PIP (Bouchard's nodes], DIP (Heberden's nodes])
108
Systolic Ejection Murmur (Crescendo-Decrescendo)
Aortic Valve Stenosis
109
Thyroid & Parathyroid Tumors, Pheochromocytoma
MEN 2A (Autosomal Dominant ret Mutation)
110
Thyroid Tumors, Pheochromocytoma, Ganglioneuromatosis
MEN 2B (Autosomal Dominant ret Mutation)
111
Toe Extension / Fanning Upon Plantar Scrape
Babinski Sign (UMN Lesion)
112
Unilateral Facial Drooping Involving Forehead
LMN Facial Nerve (CN VII) Palsy; UMN Lesions Spare The Forehead
113
Urethritis, Conjunctivitis, Arthritis In A Male
Reactive Arthritis Associated With HLA-B27
114
Vascular Birthmark (Port-Wine Stain) Of The Face
Nevus Flammeus (Hemangioma) Benign, But Associated With Sturge-Weber Syndrome
115
Vomiting Blood Following Gastroesophageal Lacerations
Mallory-Weiss Syndrome (Alcoholic & Bulimic Patients)
116
Weight Loss, Diarrhea, Arthritis, Fever, Adenopathy
Whipple's Disease (Tropheryma whipplei)
117
"Worst Headache Of My Life"
Subarachnoid Hemorrhage
118
Abdominal Pain, Diarrhea, Leukocytosis, Recent Antibiotic Use
Clostridium difficile Infection
119
Anaphylaxis Following Blood Transfusion
IgA Deficiency
120
Anterior "Drawer Sign" +
Anterior Cruciate Ligament Injury
121
Bilateral Acoustic Schwannomas
Neurofibromatosis Type 2
122
Black Eschar On Face Of Patient With Diabetic Ketoacidosis
Mucor Or Rhizopus Fungal Infection
123
Cervical Lymphadenopathy, Desquamating Rash, Coronary Aneurysms, Red Conjuctivae And Tongue
Kawasaki Disease (Treat With IVIG And Aspirin)
124
Chest Pain With ST Depressions On EKG
Unstable Angina (Troponins -) or NSTEMI (Troponins +)
125
Chorioretinitis, Hydrocephalus, Intracranial Calcifications
Congenital Toxoplasmosis
126
Cutaneous Flushing, Diarrhea, Bronchospasm
Carcinoid Syndrome (Right-Sided Cardiac Valvular Lesions, ↑ 5-HIAA)
127
Episodic Vertigo, Tinnitus, Hearing Loss
Meniere Disease
128
Teleangiectasis, Recurrent Epistaxis, Skin Discoloration, Arteriovenous Malformations, GI Bleeding, Hematuria
Osler-Weber-Rendu Syndrome
