Classic Presentations 2

Question 1

infant with failure to thrive, hepatosplenomegaly and neurodegeneration

Answer 1

Niemann Pick Disease (genetic sphingomyelinase deficiency)

Question 2

infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 2

Cori’s Disease (debranching enzyme deficiency)

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

Courvosier’s sign (distal obstruction of biliary tree)

Question 5

large rash with bull’s eye appearance

Answer 5

Erythema chronic migraines from Ixodes tick bite (Lyme disease: Borrelia)

Question 6

lucid interval after TBI

Answer 6

Epidural hematoma (middle meningeal artery rupture)

Question 7

male child, recurrent infections, 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, and 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 (subtype of FAP)

Question 11

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 11

Pompe’s Disease (lysosomal alpha 1-4 glucosidase deficiency)

Question 12

neonate with arm paralysis following difficult birth

Answer 12

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury–waiter’s tip)

Question 13

No lactation postpartum, absent menstruation, cold intolerance

Answer 13

Sheehan’s syndrome (pituitary infarction)

Question 14

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 14

Multiple Sclerosis

Question 15

Oscillating slow/fast breathing

Answer 15

Cheyne Stokes Respirations (central apnea in CHF or increased intracranial pressure)

Question 16

painful blue fingers/toes, hemolytic anemia

Answer 16

cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mono)

Question 17

painful, pale, cold fingers/toes

Answer 17

Raynaud’s phenomenon (vasospasm in extremities)

Question 18

Painful raised red lesions on pad of fingers/toes

Answer 18

osler’s node (infectious endocarditis, immune complex deposition)

Question 19

painless erythematous lesions on palms and soles

Answer 19

janeway lesions (infectious endocarditis, septic emboli, microabscesses)

Question 20

painless jaundice

Answer 20

cancer of the pancreatic head, obstructing bile duct

Question 21

palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria (child)

Answer 21

Henoch-Scholein purpura (IgA vasculitis affecting the skin and kidneys)

Question 22

pancreatic, pituitary, parathyroid hormon

Answer 22

MEN 1 (Autosomal dominant)

Question 23

periorbital edema/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Answer 23

nephrotic syndrome

Question 24

pink complexion, dyspnea, hyperventilation

Answer 24

Pink Puffer (emphysema, centriacinar (smoking) panacinar (alpha 1 antitrypsin deficiency)

Question 25

polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, and hypophosphatemic rickets

Answer 25

Fanconi's Syndrome (proximal tubular reabsorption defect)

Question 26

positive anterior drawer sign

Answer 26

ACL injury

Question 27

pruritic, purple, polygonal plana papules and plaques

Answer 27

lichen planus

Question 28

ptosis, miosis, anhidrosis

Answer 28

horner's syndrome (sympathetic chain lesion)

Question 29

pupil accommodates but doesn't react

Answer 29

Argyll Robertson Pupil (neurosyphilis)

Question 30

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

Answer 30

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 31

rash on palms and soles

Answer 31

Coxsackie A, Secondary Syphilis, Rocky Mountain Spotted Fever

Question 32

recurrent colds, unusual eczema, high serum IgE

Answer 32

Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)

Question 33

Red currant jelly sputum in alcoholic or diabetic patients

Answer 33

Klebsiella pneumoniae

Question 34

Red Currant Jelly stools

Answer 34

acute mesenteric ischemia (adults) intussusception (infants)

Question 35

red, itchy, swollen rash or nipple/areola

Answer 35

Paget's disease of breast, represents underlying malignancy

Question 36

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

Answer 36

von Hippel Lindau disease (dominant tumor suppressor gene mutation)

Question 37

red urine in the morning, fragile RBCs

Answer 37

Paroxysmal nocturnal hemoglbinuria

Question 38

resting tremor, rigidity, akinesia, postural instability

Answer 38

PD (nigrostriatal dopamine deletion)

Question 39

Retinal hemorrhages with pale centers

Answer 39

Roth Spots (bacterial endocarditis)

Question 40

severe jaundice in neonate

Answer 40

Criglar-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 41

Severe RLQ pain with palpation of LLQ

Answer 41

Rovsing sign (acute appendicitis)

Question 42

Severe RLQ pain with rebound tenderness

Answer 42

McBurney's sign (appendicitis)

Question 43

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

Answer 43

Fanconi's anemia (genetic loss of DNA cross link repair; often progresses to AML)

Question 44

single palmer crease

Answer 44

simian crease (down syndrome)

Question 45

situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 45

kartagener's syndrome (dyne in arm defect affecting cilia)

Question 46

skin hyper pigmentation, hypotension, fatigue

Answer 46

addison's disease (primary adrenocortical insufficiency causes increase in ACTH and an increase in alpha-MSH production--skin pigmentation)

Question 47

slow, progressive mm weakness in boys

Answer 47

Becker's muscular dystrophy (x linked missense mutation in dystrophin; less severe than Duchenne's)

Question 48

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

Answer 48

koplik spots (measles; rubeola virus)

Question 49

smooth, flat, moist, painless white lesions on genitals

Answer 49

condylomata lata (secondary syphilis)

Question 50

splinter hemorrhages in fingernails

Answer 50

bacterial endocarditis

Question 51

strawberry tongue

Answer 51

seen in scarlet fever, kawasaki disease, toxic shock syndrome

Question 52

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

Answer 52

Turner syndrome (45 XO)

Question 53

sudden swollen/painful big toe joint

Answer 53

gout/podagra (hyperurecemia)

Question 54

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

Answer 54

scurvy (vit C deficiency; can't hydroxylate proline/lysine for collagen synthesis)

Question 55

swollen, hard, painful finger joints

Answer 55

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

Question 56

systolic ejection murmur (crescendo-decrescendo)

Answer 56

AO valve stenosis

Question 57

Thyroid and parathyroid tumors, pheochromocytoma

Answer 57

MEN2A (autosomal dominant ret mutation)

Question 58

thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 58

MEN2B (autosomal dominant ret mutation)