Rapid Review: Classic Presentations

Front 1

Abdominal pain, ascites,
hepatomegaly

Back 1

Budd-Chiari Syndrome
(posthepatic venous thrombosis)

Front 2

Achilles tendon xanthoma

Back 2

Familial hypercholesterolemia

Front 3

Adrenal hemorrhage, hypotension, DIC

Back 3

Waterhouse-Friderichsen syndrome
(menigococcemia)

Front 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Back 4

Marfan’s syndrome
(fibrillin defect)

Front 5

Back pain, fever, night sweats, weight loss

Back 5

Pott’s disease
(vertebral tuberculosis)

Front 6

Big toe extension, fanning upon plantar scrape

Back 6

Babinski’s sign
(UMN lesion)

Front 7

Bilateral hilar adenopathy, uveitis

Back 7

Sarcoidosis
(noncaseating granulomas)

Front 8

Blue sclera

Back 8

osteogenesis imperfect
(collagen defect)

Front 9

Bluish line on gingival

Back 9

Burton’s line
(lead poisoning)

Front 10

Bone pain, bone enlargement, arthritis

Back 10

Paget’s disease of bone
(increased osteoblastic and osteoclastic activity)

Front 11

Café-au-lait spots, Lisch nodules (iris hamartoma)

Back 11

Neurofibromatosis type I
(+ bilateral acoustic neuromas = type II)

Front 12

Calf pseudohypertrophy

Back 12

muscular dystrophy
(most commonly Duchenne’s – dystrophin defect)

Front 13

“cherry red spots” on macula

Back 13

Tay Sachs
(ganglioside accumulation)
or
Niemann-Pick
(lysosomal storage disease)

Front 14

Chest pain, pericardial effusion\friction rub, persistent fever following MI or heart surgery

Back 14

Dressler’s Syndrome
(autoimmune-mediated post-MI fibrinous pericarditis)

Front 15

Child uses arms to stand up from squat

Back 15

Gower’s sign
(Duchenne’s Muscular dystrophy)
X-linked recessive deleted dystrophin gene

Front 16

Child with fever develops rash on face that spreads to body

Back 16

“slapped cheeks”
(erythema infectiosum\fifth disease : parvovirus B19)

Front 17

Chorea, dementia, and caudal regression

Back 17

Huntington’s disease
(autosomal dominant CAG repeat expansion)

Front 18

Chronic exercise intolerance with myalgia, fatigue, painful cramps

Back 18

McArdle’s disease
(muscle phosphorylase deficiency)

Front 19

Cold intolerance

Back 19

hypothyroidism

Front 20

Conjugate lateral gaze palsy, horizontal diplopia

Back 20

Internuclear ophthalmoplegia
(damage to MLF, bilateral = MS, unilateral = stroke)

Front 21

Continuous “machinery” heart murmur

Back 21

patent ductus arteriosus
(close with indomethacin

Front 22

dermal edema due to connective tissue deposition

Back 22

myxedema
(hypothyroidism, Graves’ disease)

Front 23

Dark purple skin\mouth nodules

Back 23

Kaposi’ sarcoma
(AIDS pt associated with HHV-8)

Front 24

hyperventilation

Back 24

Kussmaul breathing
(diabetic ketoacidosis)

Front 25

Dermatitis, dementia, diarrhea

Back 25

Pellagra
(niacin [vitamin B3] deficiency)

Front 26

Dilated cardiomyopathy, edema, polyneuropathy

Back 26

wet beriberi
(Thiamine [vitamin B1] deficiency)

Front 27

Dog or cat bite resulting in infection

Back 27

pasturella multocida

Front 28

Dry eyes, dry mouth, arthritis

Back 28

Sjogren’s syndrome
(autoimmune destruction of exocrine glands)

Front 29

Dysphagia (esophageal webs), glottitis, iron deficiency anemia

Back 29

Plummer-Vinson syndrome
(may progress to esophageal squamous cell carcinoma)

Front 30

Elastic skin, hypermobility of joints

Back 30

Ehlers-Danlos
(collagen defect)

Front 31

Enlarged, hard supraclavicular node

Back 31

Virchow’s node
(abdominal metastasis)

Front 32

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 32

Sezary syndrome
(cutaneous T cell lymphoma) or
mycosis fungoides

Front 33

Facial muscle spasms upon tapping

Back 33

Chvostek’s sign
(hypocalcemia)

Front 34

Fat, female, forty, fertile

Back 34

acute cholecystitis
(bile duct obstruction)

Front 35

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

Back 35

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

Front 36

Fever, cough, conjunctivitis, coryza, diffuse rash

Back 36

measles
(morbillivirus)

Front 37

Fever, night sweats, weight loss

Back 37

B symptoms
(lymphoma)

Front 38

Fibrous plaques in soft tissue of penis

Back 38

Peyronie’s disease
(connective tissue disorder)

Front 39

Gout, mental retardation, self-mutilating behavior in a boy

Back 39

Lesch-Neyhan syndrome
(HGPRT deficiency)

Front 40

Green-yellow rings around peripheral cornea

Back 40

Kayser-Fleisher rings
(copper accumulation from Wilson’s disease)

Front 41

Harmartomatous GI polyps, hyperpigmentation of mouth-feet-hands

Back 41

Peutz-Jeghers syndrome
(genetic benign polyposis can cause bowel obstruction)
Increase risk of cancer

Front 42

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Back 42

Gaucher’s disease
(glucocerebrosidase deficiency)

Front 43

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 43

Alport’s syndrome
(collagen mutation)

Front 44

Hypercoagulablity (leading to migrating DVTs and vasculitis)

Back 44

Trousseau’s sign
(adenocarcinoma of the pancreas or lung)

Front 45

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 45

Kluver-Bucy syndrome
(bilateral amygdale lesion)

Front 46

Hypertension, hypokalemia, metabolioc acidosis

Back 46

Conn’s syndrome
(primary hyperaldosteronism)

Front 47

Hypoxemia, polycythemia, hypercapnea

Back 47

“blue bloater”
(chronic bronchitis|hyperplasia of mucus cells)

Front 48

Indurated, ulcerated genital lesion (painless)

Back 48

chancre
(primary syphilis: treponema palladium)

Front 49

Infant with failure to thrive, hepatosplenomegaly, and neurodegeration

Back 49

Niemann-Pick
(genetic sphingomyelinase deficiency)