Rapid Review 2

Question 1

infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Answer 1

Niemann-Pick Disease

Question 2

infant with hypoglycemia, failure to thrive, hepatomegaly

Answer 2

Cori’s Disease

Question 3

infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Answer 3

Edwards’ Syndrome (trisomy 18)

Question 4

jaundice, palpable distended non-tender gallbladder

Answer 4

Courvoisier’s Sign (distal obstruction of biliary tree)

Question 5

large rash with bull’s-eye appearance

Answer 5

erythema chronicum migrans (Lyme Disease)

Question 6

lucid interval after traumatic brain injury

Answer 6

epidural hematoma

Question 7

male child with recurrent infections and no mature B-cells

Answer 7

Bruton’s disease (X-linked agammaglobulinemia)

Question 8

mucosal bleeding and prolonged bleeding time

Answer 8

Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 9

muffled heart sounds, distended neck veins, hypotension

Answer 9

Beck’s triad of cardiac tamponade

Question 10

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Answer 10

Gardner’s Syndrome

Question 11

myopathy/infantile hypertrophic cardiomyopathy, exercise intolerance

Answer 11

Pompe’s Disease

Question 12

neonate with arm paralysis following difficult birth

Answer 12

Erb-Duchenne Palsy (C5-C6, waiter’s tip)

Question 13

no lacation postpartum, absent menstruation, cold intolerance

Answer 13

Sheehan’s Syndrome

Question 14

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 14

MS

Question 15

oscillating slow/fast breathing

Answer 15

Cheyne-Stokes respirations (central apnea in CHF or increased ICP)

Question 16

painful blue fingers/toes, hemolytic anemia

Answer 16

cold agglutinin disease due to mycoplasma

Question 17

painful, pale, cold fingers/toes

Answer 17

Raynaud’s phenomenon

Question 18

painful, raised red lesions on pad of fingers or toes

Answer 18

Osler’s Node

Question 19

painless erythematous lesions on palms and soles

Answer 19

Janeway lesions

Question 20

painless jaundice

Answer 20

cancer of the pancreatic head obstructing bile duct

Question 21

palpable purpura on buttocks or legs, joint pain, abdominal pain, hematuria

Answer 21

Henoch-Schonlein Purpura

Question 22

pancreatic, pituitary, and parathyroid tumors

Answer 22

MEN1 (AD)

Question 23

periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Answer 23

Nephrotic syndrome

Question 24

pink complexion, dyspnea, hyperventilation

Answer 24

pink puffer due to emphysema

Question 25

polyuria, RTA Type II, growth failure, electrolyte imbalances, hypophophatemic rickets

Answer 25

Fanconi's Syndrome

Question 26

positive anterior drawer sign

Answer 26

ACL injury

Question 27

pruritic, purple, polygonal planar papules and plaques

Answer 27

Lichen planus

Question 28

ptosis, miosis, anhidrosis

Answer 28

Horner's Syndrome

Question 29

pupil accommodates but does not react

Answer 29

Argyll Robertson pupils

Question 30

rapidly progressive leg weakness that ascends following GI/upper respiratory infection

Answer 30

Guillain-Barre Syndrome

Question 31

rash on palms and soles

Answer 31

coxsackie A, secondary syphilis, RMSF

Question 32

recurrent colds, unusual eczema, high serum IgE

Answer 32

Hyper-IgE Syndrome/Job's syndrome

Question 33

red currant jelly sputum in alcoholic or diabetic pts

Answer 33

Klebsiella pneumoniae

Question 34

red currant jelly stools

Answer 34

acute mesenteric ischemia or intussusception in infants

Question 35

red, itchy, swollen rash of nipple/areola

Answer 35

Paget's disease of the breast (underlying cancer)

Question 36

red urine in the morning, fragile RBCs

Answer 36

paroxysmal nocturnal hemoglobinuria

Question 37

bilateral RCC, hemangioblastomas, angiomatosis, pheo

Answer 37

VHL

Question 38

resting tremor, rigidity, akinesia, postural instability

Answer 38

Parkinson's Disease

Question 39

retinal hemorrhages with pale centers

Answer 39

Roth's spots (bacterial endocarditis)

Question 40

severe jaundice in neonate

Answer 40

Crigler-Najjar Syndrome

Question 41

severe RLQ pain with palpation of LLQ

Answer 41

Rovsing's sign (acute appendicitis)

Question 42

severe RLQ pain with rebound tenderness

Answer 42

McBurney's Sign (appendicitis)

Question 43

short stature, increased incidence of tumors/leukemia, aplastic anemia

Answer 43

Fanconi's Anemia

Question 44

single palmar crease

Answer 44

Simian crease (Down Syndrome)

Question 45

situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 45

Kartagener's Syndrome (dynein defect)

Question 46

skin hyperpigmentation, hypotension, fatigue

Answer 46

Addison's Disease

Question 47

slow, progressive muscle weakness in boys

Answer 47

Becker's muscular dystrophy

Question 48

small, irregular red spots on buccal/lingual mucosa with blue-white centers

Answer 48

Koplik spots (measles/rubeola)

Question 49

smooth, flat, moist, painless white lesions on genitals

Answer 49

condylomata lata of secondary syphilis

Question 50

splinter hemorrhages in fingernails

Answer 50

bacterial endocarditis

Question 51

strawberry tongue

Answer 51

scarlet fever, Kawasaki disease, TSS

Question 52

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

Answer 52

Turner's

Question 53

sudden swollen/painful big toe joint, tophi

Answer 53

gout/podagra

Question 54

swollen gums, mucosal bleeding, poor wound healing, spots on skin

Answer 54

scurvy/vitamin C deficiency

Question 55

swollen, hard painful finger joints

Answer 55

OA (osteophytes on PIP = Bouchard's nodes, osteophytes on DIP = Heberden's nodes

Question 56

systolic ejection murmur (crescendo-decrescendo)

Answer 56

aortic valve stenosis

Question 57

thyroid tumors, parathyroid tumors, pheo

Answer 57

MEN2A

Question 58

thryoid tumors, pheo, mucosal neuromas

Answer 58

MEN2B

Question 59

unilateral facial drooping involving forehead

Answer 59

facial nerve palsy

Question 60

urethritis, conjunctivitis, arthritis in a male

Answer 60

reactive arthritis (HLA-B27)

Question 61

vascular birthmark (port-wine stain)

Answer 61

hemangioma (Sturge-Weber Syndrome)

Question 62

vomiting blood following gastroesophageal lacerations

Answer 62

Mallory-Weiss Syndrome (alcoholics and bulemics)

Question 63

weight loss, diarrhea, arthritis, fever, adenopathy

Answer 63

Whipple's Disease

Question 64

worst headache of my life

Answer 64

subarachnoid hemorrhage