Classic Presentation

Question 0

Achilles tendon xanthoma

Answer 0

Familial hypercholesterolemia

Decreases LDL signaling

Question 1

Abdominal pain
Ascites
Hepatomegaly

Answer 1

Budd-Chiari syndrome

Posthepatic venous thrombosis

Question 2

Adrenal hemorrhage
Hypotension
DIC

Answer 2

Waterhouse-Friedrichsen syndrome (meningococcemia)

Question 3

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints
Fibrillin defect

Answer 3

Marfan’s syndrome

Question 4

Athlete with polycythemia

Answer 4

EPO INJECTION

Question 5

Back pain
Fever
Nightsweats
Weight loss

Answer 5

Pott’s disease

Vertebral tuberculosis

Question 6

Bilateral hilar lymphadenopathy

Uveitis

Answer 6

Sarcoidosis

Noncaseating granulomas

Question 7

Blue sclera

Answer 7

Osteogenesis imperfecta

Question 8

Bluish line on gingiva

Answer 8

Burton’s line (lead poisoning)

Question 9

Bone pain
Bone enlargement
Arthritis

Answer 9

Paget’s disease of bone

Increased osteoblastic and osteoclastic activity

Question 10

Bounding pulses
Diatolic heart murmur
Head bobbing

Answer 10

Aortic regurgitation

Question 11

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

Answer 11

SLE

Question 12

Cafe au lait spots
Lisch nodules (iris hamartoma)

Answer 12

Neurofibrimatosis I ( + pheochromocytoma, optic gliomas)

Neurofibromatosis II (+ bilateral acoustic neuromas)

Question 13

Cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty

Answer 13

McCune-Albright syndrome

Mosaic G-protein signaling mutation

Question 14

Calf pseudohypertrophy

Answer 14

Muscular dystrophy (most commonly Duchenne's) 
X-linked RECESSIVE deletion of DYSTROPHIN gene

Question 15

“Cherry red spot” on macula

Answer 15

Tay-Sachs (ganglioside accumulation)
Or
Niemann-Pick (sphingomyelin accumulation)
Central Retinal Artery Occlusion

Question 16

Chest pain on exertion

Answer 16

Angina

Stable: moderate exertion; unstable: minimal exertion

Question 17

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

Answer 17

Dressler’s syndrome
(Autoimmune-mediated post MI fibronous pericarditis,
1-12 weeks after acute episode)

Question 18

Child uses arms to stand up from squat

Answer 18

Gower’s sign

DMD

Question 19

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

Answer 19

“Slapped cheeks”
Erythema infectiosum/5th disease
Parvovirus B-19

Question 20

Chorea
Dementia
Caudate degeneration

Answer 20

Huntington’s disease

Autosomal dominant CAG repeat expansion

Question 21

Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria

Answer 21

McArdle’s disease

Muscle glycogen phosphorylase deficiency

Question 22

Cold intolerance

Answer 22

Hypothyroidism

Question 23

Conjugate lateral gaze palsy

Horizontal diplopia

Answer 23

Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke)

Question 24

Continuous "machinery" heart murmur

Answer 24

PDA (Close with indomethacin; Open with misoprostol)

Question 25

Cutaneous/dermal edema due to connective tissue deposition

Answer 25

Myxedema (caused by hypothyroidism, Graves disease (periorbital) )

Question 26

Dark purple skin/mouth nodules

Answer 26

Kaposi's sarcoma (usually AIDS patients (gay men): associated with HHV-8

Question 27

Deep, labored breathing | Hyperventilation

Answer 27

Kussmaul breathing | DKA

Question 28

Dermatitis Dementia Diarrhea

Answer 28

Pellagra (niacin Vitamin B3 def)

Question 29

Dilated cardiomyopathy Edema Polyneuropathy

Answer 29

Wet beriberi (thiamine B1 deficiency)

Question 30

Dog or cat bite resuling in infection

Answer 30

Pasteurella multocida (cellulitis at inoculation site)

Question 31

Dry eyes Dry mouth Arthritis

Answer 31

Sjogren's syndrome | Autoimmune destruction of exocrine glands

Question 32

Dysphagia (esophageal webs) Glossitis Iron deficiency anemia

Answer 32

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

Question 33

Elastic skin, hypermobility of joints

Answer 33

Ehlers-Dahnlos syndrome (Type III COLLAGEN DEFECT)

Question 34

Enlarged, hard LEFT supraclavicular node

Answer 34

Virchow's node (abdominal metastasis)

Question 35

Facial muscle spasm upon tapping

Answer 35

Chvostek's sign | Hypocalcemia

Question 36

Fat Female Forty Fertile

Answer 36

Acute cholelithiasis | Bile duct blockage

Question 37

Fever Chills Headache Myalgia following ATB treament for SYPHILIS

Answer 37

Jarisch-Herxheimer reaction | Rapid lysis of spirochetes results in toxin release

Question 38

``` Fever Cough Conjunctivitis Coryza Diffuse rash ```

Answer 38

Measles (morbillivirus)

Question 39

Fever Night sweats Weight loss

Answer 39

B symptoms (Lymphoma)

Question 40

Fibrous plaques in soft tissue of penis

Answer 40

Peyronie's disease | Connective tissue disorder

Question 41

Gout Mental retardation Self-mutilating behaviour in boy

Answer 41

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

Question 42

Green-yellow rings around peripheral cornea

Answer 42

Kayser-Fleischer rings (copper accumulation from Wilson's disease)

Question 43

Hamartomatous GI Polyps | Hyperpigmentation of mouth feet and hands

Answer 43

Peutz-Jeghers syndrome | Genetic benign polyposis can cause bowel obstruction; increased cancer risk

Question 44

Hepatosplenomegaly Osteoporosis Neurologic symptoms

Answer 44

Gaucher's disease | Glucocerebroside def

Question 45

Hereditary nephritis Sensorineural hearing loss Cataracts

Answer 45

Alport syndrome | Mutation in ALPHA CHAIN OF COLLAGEN IV

Question 46

Hypercoagulability | Leading to migrating DVTs and vasculitis

Answer 46

Trousseau's sign | (Adenocarcinoma of pancreas or lung)

Question 47

Hyperphagia Hypersexuality Hyperorality Hyperdocility

Answer 47

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 48

Hyperreflexia Hypertonia Positive Babinski sign

Answer 48

UMN LESION

Question 49

HPN Hypokalemia Metabolic alkalosis

Answer 49

Conn's syndrome

Question 50

Hyporeflexia Hypotonia Atrophy

Answer 50

LMN LESION

Question 51

Hypoxemia Polycythemia Hypercapnia

Answer 51

"Blue bloater" | Chronic bronchitis: hyperplasia of mucous cells

Question 52

Indurated, ulcerated genital lesion

Answer 52

Nonpainful: chancre (1 syphilis, Treponema pallidum) | Painful, with exudate: chancroid (H. Ducreyi)

Question 53

Infant with FTT Hepatosplenomegaly Neurodegeneration

Answer 53

Niemann-Pick disease | Genetic sphingomyelinase deficiency

Question 54

Infant with hypoglycemia FTT HEPATOMEGALY

Answer 54

Cori's disease | Debranching enzyme def

Question 55

Keratin pearls on skin biopsy

Answer 55

Squamous cell CA