Classic Presentations

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd Chiari

Question 2

Athlete with polycythemia

Answer 2

Erythropoietin injection

Question 3

Bilateral hilar adenopathy, uveitis

Answer 3

Sarcoidosis

Question 4

Bluish line on gingiva

Answer 4

Lead poisoning

Question 5

NF-1

Answer 5

1) Cafe au lait
2) Lische nodules -> iris hamartoma
3) Pheochromocytoma
4) Optic glioma

Question 6

McCune Albright

Answer 6

1) Mosiac G-protein signaling mutation

2) Cafe au lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Question 7

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

Answer 7

Parvovirus B19

Question 8

Conjugate lateral gaze palsy, horizontal diplopia

Answer 8

MLF
Bilateral -> MS
Unilateral -> stroke

Question 9

Dry eyes, dry mouth, arthritis

Answer 9

Sjogren’s

Question 10

Plummer Vinson syndrome

Answer 10

1) Glossitis, iron-deficiency anemia, esophageal web

2) Risk of esophageal squamous cell carcinoma

Question 11

Enlarged, hard left supraclavicular node

Answer 11

Virchow’s triad -> abdominal met

Question 12

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells

Answer 12

1) Sezary syndrome -> cutaneous T-cell lymphoma/ Mycosis fungiodes

Question 13

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 13

Measles

Question 14

Fibrous plaques in soft tissue of penis

Answer 14

Peyronie’s disease

Question 15

Hamartomatous GI polyps, hyper-pigmentation of mouth, feet, hands

Answer 15

Peutz-Jeghers -> bowel obstruction, risk of cancer

Question 16

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Answer 16

Gaucher’s

Question 17

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 17

Alport syndrome -> alpha chain mutation of collagen IV

Question 18

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 18

Kluver Bucy -> bilateral amygdala lesion

Question 19

Hypoxemia, polycythemia, hypercapnia

Answer 19

Blue bloater -> bronchitis

Question 20

Painful indurated, ulcerated genital lesion with exudate

Answer 20

Chancroid -> Haemophilus ducreyi

Question 21

Non-painful indurated, ulcerated genital lesion

Answer 21

Chancre -> syphilis

Question 22

Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 22

Patau syndrome (trisomy 13)

Question 23

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Answer 23

Neimann-Pick

Question 24

Infant with hypoglycemia, failure to thrive and hepatosplenomegaly

Answer 24

Cori’s disease (debranching enzyme)

Question 25

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

Answer 25

Edward's syndrome (trisomy 18)

Question 26

Jaundice, palpable distended, non-tender gallbladder

Answer 26

Courvoisier's sign (distal obstruction of the biliary tree)

Question 27

Lucid internal after traumatic brain injury

Answer 27

Epidural hematoma -> middle meningeal

Question 28

Mucosal bleeding and prolonged bleeding time

Answer 28

Glazmann's -> GpIIb/IIIa

Question 29

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

Answer 29

Gardner's syndrome (subtype of FAP)

Question 30

Infantile hypertrophic cardiomyopathy, exercise intolerance

Answer 30

Pompe's -> lysosomal alpha 1,4 glucosidase deficiency

Question 31

Neonate with arm paralysis after birth

Answer 31

C5-C6 brachial plexus injury

Question 32

Cheyne Stokes respirations

Answer 32

CHF OR increased intracranial pressure

Question 33

Painful blue fingers and toes with hemolytic anemia

Answer 33

Cold agglutination disease -> mycoplasma pneumonia or infectious mononucleosis

Question 34

Painless jaundice

Answer 34

Pancreatic head cancer

Question 35

Palpable purpura on butt/legs, joint pain, abdominal pain, hematuria

Answer 35

Henoch-Schonlein purpura -> IgA

Question 36

Pink completion, dyspnea, hyperventilation

Answer 36

Pink puffer -> emphysema

Question 37

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

Answer 37

Fanconi syndrome -> proximal tubular reabsorption defect

Question 38

Pruritic, purple, polygonal planer papules and plaques

Answer 38

Lichen planus

Question 39

Pupil accommodates but doesn't react

Answer 39

Argyll Robertson pupil

Question 40

Guillan Barre

Answer 40

1) Ascends | 2) "acute autoimmune inflammatory demyelinating polyneuropathy"

Question 41

Rash on palms and soles

Answer 41

1) Coxsackie 2) Secondary syphilis 3) Rocky Mountain spotted fever

Question 42

Red current jelly stools in an adult

Answer 42

Acute mesenteric ischemia

Question 43

Red urine in morning, fragile RBCs

Answer 43

Proxysmal nocturnal hemoglobinuria

Question 44

VHL

Answer 44

1) Renal cell carcinoma (bilateral) 2) Hemangioblastomas 3) Angiomatosis 4) Pheochromocytoma

Question 45

Retinal hemorrhage with pale center

Answer 45

Roth's spots -> bacterial endocarditis

Question 46

Severe jaundice in neonate

Answer 46

Crigler-Najjar (unconjugated)

Question 47

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

Answer 47

Fanconi's anemia -> genetic loss of DNA crosslink repair, often progresses to AML

Question 48

Slow, progressive muscle weakness in boys

Answer 48

Becker's muscle dystrophy -> X-linked missense mutation in dystrophin

Question 49

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

Answer 49

Koplik spots -> measles/ rubeola virus

Question 50

Smooth, flat, moist, painless white lesions on genitals

Answer 50

Condylomata lata (secondary syphilis)

Question 51

Strawberry tongue

Answer 51

1) Scarlet fever 2) Kawasaki's disease 3) Toxic shock syndrome

Question 52

Swollen, hard, painful finger joints

Answer 52

Osteoarthritis

Question 53

Systolic ejection murmurs (crescendo-decresendo)

Answer 53

Aortic stenosis

Question 54

Unilateral dropping involving the forehead

Answer 54

Facial nerve (LMN) palsy

Question 55

Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 55

Whipple's disease (tropheryma whipplei)