Classic Presentations

Question 1

Abdominal Pain, Ascites, Hepatosplenomegaly

Answer 1

Budd-Chiari Syndrome (Posthepatic Venous Thrombosis)

Question 2

Abdominal Pain, Diarrhea, Leukocytsis, Recent Antibiotic Use

Answer 2

Clostridium difficile

Question 3

Achilles Tendon Xanthoma

Answer 3

Familial Hypercholesterolemia (Decrease LDL Receptor Signalling)

Question 4

Adrenal Hemorrhage, Hypotension, DIC

Answer 4

Waterhouse-Friderichsen Syndrome (Meningococcemia)

Question 5

Anaphlyaxis Following Blood Transfusion

Answer 5

IgA Deficiency

Question 6

Anterior Drawer Sign

Answer 6

ACL Injury

Question 7

Arachnodactyly, Lens Dislocation, Aortic Dissection, Hyperflexible Joints

Answer 7

Marfan Syndrome (Fibrillin Defect)

Question 8

Athlete With Polycythemia

Answer 8

Erythropoietin Injection

Question 9

Back Pain, Fever, Night Sweats

Answer 9

Pott Disease (Vertebral TB)

Question 10

Bilateral Acoustic Neuromas

Answer 10

NF2

Question 11

Bilateral Hilar Adenopathy, Uveitis

Answer 11

Sarcoidosis (Noncaseating Granulomas)

Question 12

Black Eschar on Face of Patient with Diabetic Ketoacidosis

Answer 12

Mucor or Rhizopus Fungal Infection

Question 13

Blue Sclera

Answer 13

Osteogenesis Imperfecta

Question 14

Bluish Line on Gingiva

Answer 14

Burton Line (Lead Poisoning)

Question 15

Bone Pain, Bone Enlargement, Arthritis

Answer 15

Paget Disease of Bone (Increase Osteoblastic and Osteoclastic Activity)

Question 16

Bounding Pulses, Diastolic Heart Murmur, Head Bobbing

Answer 16

Aortic Regurgitation

Question 17

Butterfly Facial Rash, Raynaud’s in Young Female

Answer 17

SLE

Question 18

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

Answer 18

NF1

Question 19

Cafe-au-lait (Unilateral), Polyostotic Fibrous Dysplasia, Precocious Puberty, Multiple Endocrine Abnormalities

Answer 19

McCune-Albright Syndrome (Mosaic G-Protein Signaling Mutation)

Question 20

Calf Pseudohypertrophy

Answer 20

Muscular Dystrophy (X-Linked Frameshift)

Question 21

Cervical Lymphadenopathy, Desquamating Rash, Coronary Aneurysms, Red Conjunctiva and Tongue

Answer 21

Kawasaki Disease (Treat with Aspirin, IVIG)

Question 22

Cherry Red Spots on Macula

Answer 22

Tay-Sachs (Ganglioside Accumulation) or Niemann-Pick (Sphingomyelin Accumulation), Central Retinal Artery Occlusion

Question 23

Chest Pain on Exeretion

Answer 23

Angina

Question 24

Chest Pain, Pericardial Effusion/Friction Rub, Persistent Fever Following MI

Answer 24

Dressler Syndrome (Autoimmune-Mediated post-MI Fibrinous Pericarditis, 2-12 Weeks After Acute Episode)

Question 25

Chest Pain with Depressions on EKG

Answer 25

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

Question 26

Child Uses Arms to Stand up from Squat

Answer 26

Gowers Sign (DMD)

Question 27

Child with Fever Later Develops Red Rash on Face that Spreads to Body

Answer 27

Slapped Cheek of Erythema Infectiosum/Fifth Disease: Parvovirus B19

Question 28

Chorea, Dementia, Caudate Degeneration

Answer 28

Huntington Disease (Autosomal Dominant CAG Repeat Expansion)

Question 29

Chorioretinitis, Hydrocephalus, Intracranial Calcification

Answer 29

Congenital Toxoplasmosis

Question 30

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

Answer 30

McArdle Disease (Skeletal Muscle Glycogen Phosphorylase Deficiency)

Question 31

Cold Intolerance

Answer 31

Hypothyroidism

Question 32

Conjugate Horizontal Gaze Palsy, Horizontal Diplopia

Answer 32

Internuclear Ophthalmoplegia (Damage to MLF; Unilateral or Bilateral)

Question 33

Continuous Machine-Like Murmur

Answer 33

PDA (Close with Indomethicin; Maintain with PGE Analogs)

Question 34

Cutaneous/Dermal Edema due to Connective Tissue Deposition

Answer 34

Myxedema (Hypothyroidism, Graves Disease)

Question 35

Cutaneous Flushing, Diarrhea, Bronchospasm

Answer 35

Carcinoid Syndrome (Right-Sided Cardiac Valvular Lesions --> ^5-HIAA)

Question 36

Dark Purple Skin/Mouth Nodules in a Patient with AIDS

Answer 36

Kaposi Sarcoma (HSV-8)

Question 37

Deep, Labored Breathing/Hyperventilation

Answer 37

Kussmaul Respirations (Diabetic Ketoacidosis)

Question 38

Dermatitis, Dementia, Diarrhea (Death)

Answer 38

Pellagra (B3 - Niacin Deficiency)

Question 39

Dilated Cardiomyopathy, Edema, Alcoholism, Malnutrition

Answer 39

Wet Beriberi (B1 - Thiamine Deficiency)

Question 40

Dog or Cat Bite Resulting in Infection

Answer 40

Pasteurella multocida (Cellulitis at Innoculation Site)

Question 41

Dry Eyes, Dry Mouth, Arthritis

Answer 41

Sjogren Syndrome (Autoimmune Destruction of Exocrine Glands)

Question 42

Dysphagia (Esophageal Webs), Glossitis, Iron Deficiency Anemia

Answer 42

Plummer-Vinson Syndrome (May Progress to Esophageal Squamous Cell Carcinoma)

Question 43

Elastic Skin, Hypermobility of Joints, Increased Bleeding Tendency

Answer 43

Ehlers-Danlos Syndrome (Type 5 Collagen Defect, Type 3 Collagen Defect in Vascular Subtype)

Question 44

Enlarged, Hard Left Supraclavicular Node

Answer 44

Virchow Node, Abdominal Metastasis

Question 45

Episodic Vertigo, Tinnitus, Hearing Loss

Answer 45

Meniere Disease

Question 46

Erythroderma, Lymphadenopathy, Hepatosplenomegaly, Atypical T Cells

Answer 46

Mycosis Fungoides (Cutaneous T-Cell Lymphoma) or Sezary Syndrome (Mycosis Fungoides + Malignant T Cells in Blood)

Question 47

Facial Muscle Spasm upon Tapping

Answer 47

Chvostek Sign (Hypocalcemia)

Question 48

Fat, Female, Forty, Fertile, Native American

Answer 48

Cholelithiasis

Question 49

Fevers, Chills, Headache, Myalgia Following Antibiotic Treatment for Syphilis

Answer 49

Jarisch-Herxheimer Reaction (Rapid Lysis of Spirochetes Results in Endotoxin Release)

Question 50

Fever, Cough, Conjunctivitis, Coryza, Diffuse Rash

Answer 50

Measles

Question 51

Fever, Night Sweats, Weight Loss

Answer 51

B Symptoms (Lymphoma)

Question 52

Fibrous Plaques in Soft Tissue of Penis with Abnormal Curvature

Answer 52

Peyronie Disease (Connective Tissue Disorder)

Question 53

Golden Brown Rings Around Peripheral Cornea

Answer 53

Kayser-Fleischer Rings (Copper Accumulation from Wilson Disease)

Question 54

Gout, Intellectual Disability, Self-Mutilating Behavior in a Boy

Answer 54

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

Question 55

Hamartomatous GI Polyps, Hyperpigmentation of Mouth/Feet/Hands/Genitalia

Answer 55

Peutz-Jeghers Syndrome (Inherited, Benign Polyposis, can lead to Bowel Obstruction, Increase GI Cancer Risk)

Question 56

Hepatosplenomegaly, Pancytopenia, Osteoporosis, Aseptic Necrosis of Femur, Bone Crises

Answer 56

Gaucher Disease (Glucocerebrosidase Deficiency)