Classic Presentations

Question 1

Ab pain, diarrhea, leukocytosis

Recent antibiotic use

Answer 1

C.diff infection

Question 2

Achilles’ tendon xanthoma

Answer 2

Familial hypercholesterolemia (decrease in LDL signaling)

Question 3

Adrenal hemorrhage, hypoTN, DIC w N. meningitidis

Answer 3

Waterhouse-Friderichsen syndrome

Question 4

Anaphylaxis following blood transfusion

Answer 4

IgA deficiency

Question 5

Positive anterior drawer sign

Answer 5

Anterior cruciate ligament injury

Question 6

Arachnodactyly, lens dislocation, aortic dissection, hyper flexible joints

Answer 6

Marfan syndrome (defective fibrin)

Question 7

Athlete with polycythemia

Answer 7

Secondary to EPO injection

Question 8

Back pain, fever, night sweats

Answer 8

Pott disease (vertebral TB)

Question 9

Bilateral acoustic shwannomas

Answer 9

Neurofibromatosis Type 2

Question 10

Bilateral hilar adenopathy, uveitis

Answer 10

Sarcoidosis (noncaseating granulomas)

Question 11

Black eschar on face of pt with diabetic ketoacidosis

Answer 11

Mucor or Rhizopus fungal infection

Question 12

Blue sclera

Answer 12

Osteogenesis imperfecta (type I collagen defect)

Question 13

Bluish line on gingiva

Answer 13

Burton line (lead poisoning)

Question 14

Bone pain, bone enlargement, arthritis

Answer 14

Paget disease of the bone (increase osteoblast and -clast activity)

Question 15

Bounding pulses, diastolic heart murmur, head bobbing

Answer 15

Aortic regurgitation

Question 16

Butterfly malar rash and Raynaud phenomenon in young female

Answer 16

Systemic Lupus Erythmatosus

Question 17

Cafe-au-lait spots, Lisch nodules (iris hemartoma)

Cutaneous neurofibromas, pheochromocytomas, optic gliomas

Answer 17

Neurofibromatosis type 1

Question 18

Ab pain, ascites, hepatomegaly

Absent JVD, mottled/nutmeg liver

Answer 18

Budd-Chiari Syndrome

Question 19

Cafe-au-lait spots (unilateral), polyostic fibrous dysplasia

Precocious puberty, multiple endocrine abnormalities

Answer 19

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

Question 20

Calf Pseudoypertrophy

Answer 20

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

Question 21

Cervical lymphadenopathy, desquamating rash

Coronary aneurysms, red conjunctivae and tongue

Answer 21

Kawasaki disease (treat w IVIG and aspirin)

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 exertion

Answer 23

angina (stable = w moderate exertion, unstable = w minimal exertion or at rest)

Question 24

Chest pain, pericardial effusion/friction rub

Persistent fever following MI

Answer 24

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis; 2-12wks after acute episode

Question 25

Chest pain w ST-depressions on EKG

Answer 25

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

Question 26

Child uses arms to stand up from squat

Answer 26

Gowers sign (Duchenne Muscular Dystrophy)

Question 27

Child w fever later develops rash on face that spreads to body

Answer 27

"Slapped cheeks" (erythema infectosium/fifth disease:parvovirus B19)

Question 28

Chorea (jerky, involuntary movements), dementia, caudate degeneration

Answer 28

Huntington disease (autosomal dominant CA repeat expansion)

Question 29

Chorioretinitis, hydrocephalus, intracranial calcifications

Answer 29

Congenital toxoplasmosis

Question 30

Chronic exercise intolerance w myalgia, fatigue | painful cramps and myoglobinuria

Answer 30

McArdle Disease (Type V: skeletal muscle glycogen phosphorylase deficiency)

Question 31

Cold intolerance

Answer 31

Hypothyroidism

Question 32

Conjugate horizontal gaze palsy, horizontal diplopia

Answer 32

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

Question 33

Continuous "machine-like" heart murmur

Answer 33

PDA (close w indomethacin; open/maintain w PGE)

Question 34

Cutaneous/dermal edema due to connective tissue deposition

Answer 34

Myxedema (caused by hypothyroid; Graves disease [pretibial])

Question 35

Cutaneous flushing, diarrhea, bronchospasm

Answer 35

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

Question 36

Dark purple skin/mouth nodules in a patient with AIDS

Answer 36

Kaposi sarcoma, associated w HHV-8

Question 37

Deep, labored breathing/hyperventilation

Answer 37

Kussmaul respirations (diabetic ketoacidosis)

Question 38

Dermatitis, dementia, diarrhea

Answer 38

Pellagra (niacin [Vit B3] deficiency)

Question 39

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 39

Wet beriberi (thiamin [Vit B1] deficiency)

Question 40

Dog or cat bite resulting in infection

Answer 40

Pasteurella multocida (cellulitis at inoculation 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, hypermobile joints, increased bleeding tendency

Answer 43

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen 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, hepatospenomegaly, 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, and fertile

Answer 48

Cholelithiasis (gallstones)

Question 49

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

Answer 49

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

Question 50

Fever, cough, conjunctivitis, coryza (rhinitis), diffuse rash

Answer 50

Measles

Question 51

Fever, night sweats, weight loss

Answer 51

B symptoms (staging) of lymphoma

Question 52

Fibrous plaques in soft tissue of penis w 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 cause bowel obstruction; increased cancer risk, mainly GI)

Question 56

Hepatosplenomegaly, pancytopenia, osteoperosis, aseptic necrosis of femur, bone crises

Answer 56

Gaucher disease (glucocerebrosidase deficiency)