Classic Presentations 1

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 3

Adrenal Hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 4

Marfan’s Syndrom (fibrillin defect)

Question 5

Athlete w/ polycythemia

Answer 5

Secondary to EPO injections

Question 6

Back pain, fever, night sweats, weight loss

Answer 6

Pott’s Disease (vertebral TB)

Question 7

Bilateral hilar adenopathy, weight loss

Answer 7

Sarcoidosis (non caseating granulomas)

Question 8

Blue sclera

Answer 8

Osteogenesis Imperfecta (type I collagen defect)

Question 9

Bluish line on gingiva

Answer 9

Burton’s line, lead poisoning

Question 10

bone pain, bone enlargement, arthritis

Answer 10

Paget’s Disease (Increase in OB and OC activity)

Question 11

bounding pulses, diastolic heart murmur, head bobbing

Answer 11

Aortic Regurgitation

Question 12

Butterfly facial rash, raynaud’s phenomenon, young female

Answer 12

SLE

Question 13

cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Answer 13

McCune Albright syndrome (mosaic g-protein signaling mutation)

Question 14

cafe au lait spots, lisch nodules (iris hamartoma)

Answer 14

NF-1 (+ pheochromocytoma + optic gliomas)

Question 15

calf psudohypertrophy

Answer 15

Muscular dystrophy (most commonly Duchenne’s) X-Linked recessive deletion of dystrophin gene

Question 16

Cherry red spot on macula

Answer 16

Tay Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation) central retinal artery occlusion

Question 17

chest pain on exertion

Answer 17

Angina (stable w/ moderate exertion, unstable w/ minimal exertion)

Question 18

chest pain, pericardia friction rub, pericardial effusion, persistent fever post MI

Answer 18

Dressler’s syndrome (auto-immune mediated post MI fibrinous pericarditis, 1-12 weeks after MI)

Question 19

child sues arms to stand up from squat

Answer 19

Gower’s Sign (Duchenne muscular dystrophy)

Question 20

child with fever later develop red raw on face that spreads to body “slapped cheek rash”

Answer 20

Parvovirus B19, erythema infectiosum/5th disease)

Question 21

chorea, dementia, caudate degeneration

Answer 21

Huntington’s Disease (AD, CAG repeat)

Question 22

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Answer 22

McArdle’s disease (mm glycogen phosphorylase deficiency)

Question 23

Cold intolerance

Answer 23

hypothryroidism

Question 24

conjugate lateral gaze palsy, horizontal diploplia

Answer 24

internuclear ophthalmoplegia (damage to MLF; bilateral MS or unilateral stroke)

Question 25

continuous machine like murmur

Answer 25

PDA (close with indomethacin, open or maintain with misoprostol)

Question 26

cutaneous/dermal edema due to connective tissue deposition

Answer 26

myxedema (hypothyroidism or Grave's Disease)

Question 27

dark purple skin/mouth nodules

Answer 27

kaposi sarcoma (HHV-8) usually AIDS patient

Question 28

deep labored breathing/hyperventiliation

Answer 28

Kussmaul breathing (DKA)

Question 29

dermatitis, dementia, diarrhea

Answer 29

Pellegra (niacin vit B3 deficiency)

Question 30

dilated cardiomyopathy, edema, alcoholism, malnutrition

Answer 30

Wet Beriberi (thiamine deficiency B1)

Question 31

dog or cat bite resulting in infection

Answer 31

Pasteurella multocida (cellulitis at inoculation site)

Question 32

dry eyes, dry mouth, arthritis

Answer 32

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 33

dysphagia (esophageal webs) glossitis iron deficiency anemia

Answer 33

Plummer Vinson Syndrome

Question 34

Elastic skin and hyper mobility of joints

Answer 34

Ehlers-Danlos syndrome (type III collagen defect)

Question 35

enlarged hard left supraclavicular node

Answer 35

Virchow's node (abdominal metastasis)

Question 36

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 36

Sezary Syndrome (cutaneous t cell lymphoma) or mycosis fungoides

Question 37

facial mm spasm upon tapping

Answer 37

Chvostek's sign (hypcalcemia)

Question 38

fat, female, forty, and fertile

Answer 38

Cholelithiasis

Question 39

fever, chills, headache, myalgia, following Ab treatment for syphillis

Answer 39

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

Question 40

fever, cough, conjunctivitis, coryza, diffuse rash

Answer 40

Measles

Question 41

fever, night sweats, weight loss

Answer 41

B symtoms--lymphoma

Question 42

fibrous plaques in soft tissue of penis

Answer 42

Peyronie's Disease (CT disorder, soft tissue tumors)

Question 43

gout, mental retardation, self-mutilating behavior in a boy

Answer 43

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

Question 44

green-yellow rings around peripheral cornea

Answer 44

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

Question 45

Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands

Answer 45

Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction, increase GI cancer risk)

Question 46

hepatosplenomagaly, osteoporosis, neurologic symptoms

Answer 46

Gaucher's Disease (glucocerebrosidase deficiency)

Question 47

hereditary nephritis, sensorinueral hearing loss, cataracts

Answer 47

Alport's Syndrome (mutation in alpha chain of collagen IV)

Question 48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 48

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 49

hyperreflexia, hypertonia, babinski sign

Answer 49

UMN damage

Question 50

hyporeflexia, hypotonia, atrophy, fasiculations

Answer 50

LMN damage

Question 51

hypoxemia, polycythemia, hypercapnia

Answer 51

Blue Bloater "chronic bronchitis, hyperplasia of mucus cells)

Question 52

indurated ulcerated genital lesion

Answer 52

non painful chancre (primary syphilius) painful with exudate (H. ducreyi)

Question 53

infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia

Answer 53

Patau's syndrome (trisomy 13)

Question 54

toe extension/fanning upon plantar scrape

Answer 54

Babinski sign (UMN lesion)

Question 55

unilateral facial dropping involving forehead

Answer 55

Facial nerve (LMN CN VII palsy)

Question 56

urethritis, conjunctivitis, arthritis in a male

Answer 56

Reactive arthritis associated with HLA-B27

Question 57

vascular birthmark (port-wine stain)

Answer 57

Hemangioma (benign but associated with Sturge Weber syndrome)

Question 58

vomitting blood following gastroesophageal lacerations

Answer 58

mallory-weiss syndrome (alcoholic and bulimic patients)

Question 59

weight loss, diarrhea, arthritis, fever, adenopathy

Answer 59

Whipple's Disease (tropheryma whipplei)

Question 60

worse headache of my life

Answer 60

subarachnoid hemorrhage