classical 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-r signaling

Question 3

adrenal hemorrhage, hypotension, DIC

Answer 3

waterhouse-freiderichsen syndrome (meningococcemia)

Question 4

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 4

Marfan’s syndrome (fibrillin defect)

Question 5

athlete w/ polycythemia

Answer 5

2’ to erythropoietin injection

Question 6

back pain, fever, night sweats, weight loss

Answer 6

Pott’s disease (vertebral TB)

Question 7

Bilateral hilar adenopathy, uveitis

Answer 7

sarcoidosis (noncaseating 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 of bone

increase osteoblastic & osteoclastic activity

Question 11

bounding pulses, diastolic heart murmur, head bobbing

Answer 11

aortic regurgitation

Question 12

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

Answer 12

systemic lupus erythematosus

Question 13

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

Answer 13

Neurofibromatosis type I

+ pheochromocytoma, optic gliomas

Question 14

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

Answer 14

McCune-Albright syndrome

mosaic G-protein signaling mutation

Question 15

Calf pseudohypertrophy

Answer 15

muscular dystrophy (most commonly Duchenne's):
XLR deletion of dystrophin

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, pericardial effusion/friction rub, persistent fever following MI

Answer 18

Dressler’s syndrome

AI-mediated post-MI fibrinous pericarditis, 1-12wks after acute episode

Question 19

child uses arms to stand up from squat

Answer 19

Gower’s sign

Duchenne muscular dystrophy

Question 20

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

Answer 20

“Slapped cheeks”

erythema infectiosum/5th disease: parvo B19

Question 21

chorea, dementia, caudate degeneration

Answer 21

Huntington’s disease

autosomal-dominant CAG repeat expansion

Question 22

Chronic exercise intolerance w/ myalgia, fatigue, painful, cramps, myoglobinuria

Answer 22

McArdle’s disease

muscle glycogen phosphorylase deficiency

Question 23

Cold intolerance

Answer 23

Hypothyroidism

Question 24

Conjugate lateral gaze palsy, horizontal diplopia

Answer 24

Internuclear ophthalmoplegia

damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]

Question 25

continuous "machinery" heart murmur

Answer 25

PDA close w/ indomethacin; open or maintain w/ misoprostol

Question 26

Cutaneous/dermal edema due to connective tissue deposition

Answer 26

Myxedema caused by hypothyroidism, Graves' disease=> pretibial myxedema

Question 27

dark purple skin/mouth nodules

Answer 27

Kaposi's sarcoma | usually AIDS patients [MSM]: assoc w/ HHV-8

Question 28

Deep, labored breathing/hyperventilation

Answer 28

``` Kussmaul breathing (diabetic ketoacidosis) ```

Question 29

dermatitis, dementia, diarrhea

Answer 29

Pellagra | niacin [vit B3] deficiency

Question 30

dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 30

``` Wet beriberi (thiamine [vit B1] deficiency) ```

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's syndrome | AI destruction of exocrine glands

Question 33

dysphagia (esophageal webs), glossitis, iron deficiency, anemia

Answer 33

Plummer-Vinson syndrome | may progress to squamous cell CA

Question 34

Elastic skin, hypermobility 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 muscle spasm upon tapping

Answer 37

Chvostek's sign | hypocalcemia

Question 38

fat, female, forty, fertile

Answer 38

cholelithiasis | gallstones

Question 39

fever, chills, headache, myalgia following antibiotic Tx for syphilis

Answer 39

Jarisch-Herxheimer rxn | rapid lysis of spirochetes results in toxin release

Question 40

fever, cough, conjunctivitis, coryza, diffuse rash

Answer 40

Measles | morbillivirus

Question 41

fever, night sweats, weight loss

Answer 41

B symptoms (staging) of lymphoma

Question 42

fibrous plaques in soft tissue of penis

Answer 42

Peyronie's disease | connective tissue disorder

Question 43

Gout, mental retardation, self mutilating behavior in a boy

Answer 43

Lesch-Nyhan syndrome | XLR: HGPRT deficiency

Question 44

Green-yellow rings around peripheral cornea

Answer 44

Kayser-Fleischer rings | copper accumulation from Wilson's disease

Question 45

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 45

Peutz-Jeghers syndrome | inherited, benign polyposis can cause bowel obstruction; increases cancer risk, mainly GI

Question 46

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Answer 46

Gaucher's disease | glucocerebrosidase deficiency

Question 47

hereditary nephritis, sensorineural hearing loss, cataracts

Answer 47

Alport 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 present

Answer 49

UMN damage

Question 50

hyporeflexia, hypotonia, atrophy, fasciculations

Answer 50

LMN damage

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, w/ exudate: chancroid (Haemophilus decreyi)

Question 53

infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 53

Patau's syndrome | trisomy 13