Classic Presentations - 2

Question 1

fat, female, forty, fertile, familial

Answer 1

cholelithiasis

Question 2

short stature, cafe-au-lait spots, thumb/radial defects, inc incidence of tumors/leukemia, aplastic anemia

Answer 2

fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Question 3

red urine in the morning, fragile RBCs

Answer 3

paroxysmal nocturnal hemoglobinuria

Question 4

painful blue fingers/toes, hemolytic anemia

Answer 4

cold agglutinin dz (autoimmune hemolytic anemia caused by M. pneumo, mono, CLL)

Question 5

mucosal bleeding + prolonged bleeding time

Answer 5

glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 6

fever, night sweats, weight loss

Answer 6

B symptoms of lymphoma

Question 7

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells (look like brains)

Answer 7

mycosis fungoides (cutaneous T cell syndrome) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

Question 8

WBCs that look “smudged”

Answer 8

CLL

Question 9

athlete w/ polycythemia

Answer 9

EPO injections

Question 10

neonate w/ arm paralysis following difficult birth, arm in “waiters tip” position

Answer 10

erb-duchenne palsy (superior trunk - C5-C6 - injury)

Question 11

bone pain, bone enlargement, arthritis

Answer 11

paget disease of the bone (inc OB + OC activity)

Question 12

swollen, hard, painful finger joints in an elderly individual, pain worse w/ activity

Answer 12

osteoarthritis (osteophytes on PIP = bouchard nodes, DIP = heberden nodes)

Question 13

sudden swollen/painful big toe joint, tophi

Answer 13

gout/podagra (hyperuricemia)

Question 14

dry eyes, dry mouth, arthritis

Answer 14

sjogren syndrome (autoimmune destruction of exocrine glands)

Question 15

urethritis, conjunctivitis, arthritis in a male

Answer 15

reactive arthritis assoc w/ HLA-B27

Question 16

butterfly facial rash + raynauds in a young female

Answer 16

SLE

Question 17

anticentromere Abs

Answer 17

scleroderma, CREST

Question 18

dark purple skin/mouth nodule sin a pt w/ AIDS

Answer 18

kaposi sarcoma - HHV-8

Question 19

anti-desmoglein (anti-desmosome) Abs

Answer 19

pemphigus vulgaris

Question 20

pruritic, purple, polygonal planar papules + plaques

Answer 20

lichen planus

Question 21

inc AFP in amniotic fluid

Answer 21

dating error, anencephaly, NTDs

Question 22

toe extension/fanning upon plantar scrape

Answer 22

babinski sign (UMN lesion)

Question 23

hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 23

kluver-bucy syndrome (bilateral amygdala lesion)

Question 24

lucid interval after TBI

Answer 24

epidural hematoma (middle meningeal rupture)

Question 25

"worst headache of my life"

Answer 25

subarachnoid hemorrhage

Question 26

resting tremor, rigidity, akinesia, postural instability, shuffling gait

Answer 26

parkinson dz (loss of dopaminergic neurons in substantia nigra pars compacta)

Question 27

chorea, dementia, caudate degerenation

Answer 27

huntington dz (AD CAG repeat expansion)

Question 28

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 28

MS

Question 29

rapidly progressive limb weakness that ascends following GI/URI

Answer 29

GBS

Question 30

cafe-au-lait spots, lisch nodules (iris hamartomas), cutaneous nodules, pheo, optic gliomas

Answer 30

NF-1

Question 31

vascular birthmark (port-wine stain) of the face

Answer 31

nevus flammeus (benign, assoc w/ Sturge-Weber)

Question 32

bilateral RCC, hemangioblastomas, angiomatosis, pheo

Answer 32

VHL (dominant tumor suppressor gene mutation)

Question 33

bilateral acoustic neuromas

Answer 33

NF-2

Question 34

hyperreflexia, hypertonia, babinski sign

Answer 34

UMN lesion

Question 35

hyporeflexia, hypotonia, atrophy, fasciculations

Answer 35

LMN lesion

Question 36

unilateral facial drooping involving the forehead

Answer 36

LMN CN VII palsy (UMN lesion would spare the eyebrows)

Question 37

episodic vertigo, tinnitus, hearing loss

Answer 37

meniere disease

Question 38

ptosis, miosis, anhidrosis

Answer 38

horner syndrome (sympathetic chain lesion)

Question 39

conjugate horizontal gaze palsy, horizontal diplopia

Answer 39

INO (damage to ipsilateral MLF)

Question 40

polyuria, RTA II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Answer 40

fanconi syndrome (multiple combined dysfunction of the PCT)

Question 41

bluish line on gingiva

Answer 41

burton line = lead poisoning

Question 42

periorbital and/or peripheral edema, proteinuria >3.5g/day, hypoalbuminemia, hypercholesterolemia

Answer 42

nephrotic syndrome

Question 43

hereditary nephritis, sensorineural hearing loss, cataracts

Answer 43

alport syndrome (type IV collagen mut)

Question 44

streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

Answer 44

Turner syndrome

Question 45

red, itchy, swollen rash of nipple/areola

Answer 45

paget disease (assoc w/ underling DCIS)

Question 46

fibrous plaques in soft tissue of penis w/ abnormal curvature

Answer 46

peyronie dz (connective tissue disorder)

Question 47

hypoxemia, polycythemia, hypercapnia

Answer 47

chronic bronchitis (hyperplasia of mucous glands)

Question 48

pink complexion, dyspnea, hyperventilation

Answer 48

emphysema (centriacinar = smoking, panacinar = a1-antitrypsin)

Question 49

bilateral hilar adenopathy, uveitis

Answer 49

sarcoidosis (noncaseating granulomas)