Rapid Review (Clinical Presentations 1)

Question 1

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Answer 1

Clostridium difficile infection

Question 2

Splinter hemorrhages in fingernails

Answer 2

Bacterial endocarditis

Question 3

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Answer 3

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

Question 4

Back pain, fever, night sweats

Answer 4

Pott disease (vertebral TB)

Question 5

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 5

Measles

Question 6

Elastic skin hypermobility of joints increased bleeding tendency

Answer 6

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

Question 7

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Answer 7

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

Question 8

Infant with hypoglycemia, hepatomegaly

Answer 8

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

Question 9

Achilles tendon xanthoma

Answer 9

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 10

Cafe-au-lait spots (unilateral) polyostotic fibrous dysplasia precocious puberty multiple endocrine abnormalities

Answer 10

McCune-Albright syndrome (Gs-protein activating mutation)

Question 11

Smooth, moist, painless, wart-like white lesions on genitals

Answer 11

Condylomata lata (2° syphilis)

Question 12

Dog or cat bite resulting in infection

Answer 12

Pasteurella multocida (cellulitis at inoculation site)

Question 13

Chorioretinitis, hydrocephalus, intracranial calcifications

Answer 13

Congenital toxoplasmosis

Question 14

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Answer 14

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

Question 15

Adrenal hemorrhage, hypotension, DIC

Answer 15

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 16

Painful, raised red lesions on pads of fingers/toes

Answer 16

Osler nodes (infective endocarditis, immune complex deposition)

Question 17

gout intellectual disability self-mutilating behavior in a boy

Answer 17

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked)

Question 18

arachnodactyly lens dislocation (upward and temporal) aortic dissection hyperflexible joints

Answer 18

Marfan syndrome (fibrillin defect)

Question 19

Blue sclera

Answer 19

Osteogenesis imperfecta (type I collagen defect)

Question 20

Calf pseudohypertrophy

Answer 20

muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

Question 21

Chest pain with ST depressions on ECG

Answer 21

Angina (⊝ troponins) or NSTEMI (⊕ troponins)

Question 22

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

Answer 22

Koplik spots (measles [rubeola] virus)

Question 23

situs inversus chronic sinusitis bronchiectasis infertility

Answer 23

Kartagener syndrome (dynein arm defect affecting cilia)

Question 24

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

Answer 24

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

Question 25

Anaphylaxis following blood transfusion

Answer 25

IgA deficiency

Question 26

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

Answer 26

Patau syndrome (trisomy 13)

Question 27

“Strawberry tongue”

Answer 27

Scarlet fever Kawasaki disease

Question 28

Continuous “machine-like” heart murmur

Answer 28

PDA (close with indomethacin; keep open with PGE analogs)

Question 29

Painless erythematous lesions on palms and soles

Answer 29

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Question 30

Large rash with bull’s-eye appearance

Answer 30

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

Question 31

Slow, progressive muscle weakness in boys

Answer 31

Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

Question 32

“Cherry-red spots” on macula

Answer 32

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Question 33

Black eschar on face of patient with diabetic ketoacidosis

Answer 33

Mucor or Rhizopus fungal infection

Question 34

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 34

Klebsiella pneumoniae pneumonia

Question 35

Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, increased eosinophils

Answer 35

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

Question 36

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 36

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

Question 37

Rash on palms and soles

Answer 37

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Question 38

Chest pain on exertion

Answer 38

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

Question 39

Ulcerated genital lesion

Answer 39

Nonpainful, indurated: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 40

Single palmar crease

Answer 40

Down syndrome

Question 41

Pupil accommodates but doesn’t react

Answer 41

Neurosyphilis (Argyll Robertson pupil)

Question 42

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 42

Wet beriberi (thiamine [vitamin B1] deficiency)

Question 43

Systolic ejection murmur (crescendo-decrescendo)

Answer 43

Aortic stenosis

Question 44

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Answer 44

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)

Question 45

Dermatitis, dementia, diarrhea

Answer 45

Pellagra (niacin [vitamin B3] deficiency)

Question 46

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

Answer 46

Edwards syndrome (trisomy 18)

Question 47

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

Answer 47

Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency)

Question 48

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Answer 48

Aortic regurgitation

Question 49

Child uses arms to stand up from squat

Answer 49

Duchenne muscular dystrophy (Gowers sign)

Question 50

Male child, recurrent infections, no mature B cells

Answer 50

Bruton disease (X-linked agammaglobulinemia)