Rapid Review - Classic Presentations (Part 2)

Question 1

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 1

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

Question 2

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

Answer 2

Edwards syndrome (trisomy 18)

Question 3

Jaundice, palpable distended non-tender gallbladder

Answer 3

Courvoisier sign (distal obstruction of biliary tree)

Question 4

Large rash with bull’s-eye apperance

Answer 4

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

Question 5

Lucid interval after traumatic brain injury

Answer 5

Epidural hematoma (middle meningeal artery rupture)

Question 6

Male child, recurrent infections, no mature B cells

Answer 6

Bruton disease (X-linked agammaglobinemia)

Question 7

Mucosal bleeding and prolonged bleeding time

Answer 7

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

Question 8

Muffled heart sounds, distended neck veins, hypotension

Answer 8

Beck triad of cardiac tamponade

Question 9

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

Answer 9

Gardner syndrome (subtype of FAP)

Question 10

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 10

Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

Question 11

Neonate with arm paralysis following difficult birth

Answer 11

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

Question 12

No lactation postpartum, absent menstruation, cold intolerance

Answer 12

Sheehan syndrome (pituitary infarction)

Question 13

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 13

Multiple sclerosis

Question 14

Oscillating slow/fast breathing

Answer 14

Cheyne-Stokes respirations (central apnea in CHF or high intracranial pressure)

Question 15

Painful blue fingers/toes, hemolytic anemia

Answer 15

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

Question 16

Painful, pale, cold fingers/toes

Answer 16

Raynaud phenomenon (vasospasm in extremities)

Question 17

Painful, raised red lesions on pad of fingers/toes

Answer 17

Osler nodes (infective endocarditis, immune complex deposition)

Question 18

Painless erythematous lesions on palms and soles

Answer 18

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Question 19

Painless jaundice

Answer 19

Cancer of the pancreatic head obstructing bile duct

Question 20

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

Answer 20

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

Question 21

Pancreatic, pituitary, parathyroid tumors

Answer 21

MEN 1 (autosomal dominant)

Question 22

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Answer 22

Nephrotic syndrome

Question 23

Pink complexion, dyspnea, hyperventilation

Answer 23

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])

Question 24

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

Answer 24

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

Question 25

Pruritic, purple, polygonal planar papules and plaques (6 P's)

Answer 25

Lichen planus

Question 26

Ptosis, miosis, anhidrosis

Answer 26

Horner syndrome (sympathetic chain lesion)

Question 27

Pupil accommodates but doesn't react

Answer 27

Argyll Robertson pupil (neurosyphilis)

Question 28

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

Answer 28

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 29

Rash on palms and soles

Answer 29

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

Question 30

Recurrent colds, unusual eczema, high serum IgE

Answer 30

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

Question 31

Red "currant jelly" sputum in alcoholic or diabetic patients

Answer 31

Klebsiella pneumoniae

Question 32

Red "currant jelly" stool

Answer 32

Acute mesenteric ischemia (adults), intussusception (infants)

Question 33

Red, itchy, swollen rash of nipple/areola

Answer 33

Paget disease of the breast (sign of underlying neoplasm)

Question 34

Red urine in the morning, fragile RBCs

Answer 34

Paroxysmal nocturnal hemoglobinuria

Question 35

Renal cell carincoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

Answer 35

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Question 36

Resting tremor, rigidity, akinesia, postural instability

Answer 36

Parkinson disease (nigrostriatal dopamine depletion)

Question 37

Retinal hemorrhages with pale centers

Answer 37

Roth spots (bacterial endocarditis)

Question 38

Severe jaundice in neonate

Answer 38

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 39

Severe RLQ pain with palpation of LLQ

Answer 39

Rovsing sign (acute appendicitis)

Question 40

Severe RLQ pain with rebound tenderness

Answer 40

McBurney sign (acute appendicitis)

Question 41

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

Answer 41

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

Question 42

Single palmar crease

Answer 42

Down syndrome

Question 43

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 43

Kartagener syndrome (dynein arm defect affecting cilia)

Question 44

Skin hyperpigmentation, hypotension, fatigue

Answer 44

Addision disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)

Question 45

Slow, progressive muscle weakness in boys

Answer 45

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Question 46

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

Answer 46

Koplik spots (measles; rubeola virus)

Question 47

Smooth, flat, moist, painless white lesions on genitals

Answer 47

Condylomata lata (secondary syphilis)

Question 48

Splinter hemorrhage in fingernails

Answer 48

Bacterial endocarditis

Question 49

"Strawberry tongue"

Answer 49

Scarlet fever, Kawasaki disease, toxic shock syndrome

Question 50

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

Answer 50

Turner syndrome (45, XO)

Question 51

Sudden swollen/painful bit toe joint, tophi

Answer 51

Gout/podagra (hyperuricemia)

Question 52

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Answer 52

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

Question 53

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

Answer 53

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Question 54

Systolic ejection murmur (crescendo-descrescendo)

Answer 54

Aortic valve stenosis

Question 55

Thyroid and parathyroid tumors, pheochromocytoma

Answer 55

MEN 2A (autosomal dominant ret mutation)

Question 56

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 56

MEN 2B (autosomal dominant ret mutation)

Question 57

Toe extension/fanning upon plantar scrape

Answer 57

Babinski sign (UMN lesion)

Question 58

Unilateral facial drooping involving forehead

Answer 58

Facial nerve (LMN CN VII palsy)

Question 59

Urethritis, conjunctivitis, arthritis in a male

Answer 59

Reactive arthritis associated with HLA-B27

Question 60

Vascular birthmark (port-wine stain)

Answer 60

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Question 61

Vomiting blood following gastroesophageal lacerations

Answer 61

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Question 62

Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 62

Whipple disease (Tropheryma whipplei)

Question 63

"Worst headache of my life"

Answer 63

Subarachnoid hemorrhage