Rapid Review - Classic Presentations (Part 1)

Question 1

Abdominal pain, ascites, hepatosplenomegaly

Answer 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 3

Adrenal hemorrhage, hypotension, DIC

Answer 3

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 4

Anterior “drawer sign” positive

Answer 4

Anterior cruciate ligament injury

Question 5

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

Answer 5

Marfan syndrome (fibrillin defect)

Question 6

Athlete with polycythemia

Answer 6

Secondary to erythropoietin injection

Question 7

Back pain, fever, night sweats, weight loss

Answer 7

Pott disease (vertebral TB)

Question 8

Bilateral hilar adenopathy, uveitis

Answer 8

Sarcoidosis (noncaseating granulomas)

Question 9

Blue sclera

Answer 9

Osteogenesis imperfecta (type I collagen defect)

Question 10

Bluish line on gingiva

Answer 10

Burton line (lead poisoning)

Question 11

Bone pain, bone enlargement, arthritis

Answer 11

Paget disease of bone (increased osteoblastic and osteoclastic activity)

Question 12

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

Answer 12

Aortic regurgitation

Question 13

“Butterfly” facial rash and Raynaud phenomenon in a young female

Answer 13

Systemic lupus erythematosus

Question 14

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Answer 14

Neurofibromatosis type I

Question 15

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

Answer 15

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Question 16

Calf pseudohypertrophy

Answer 16

Muscular dystrophy (most commonly Duchenne, X-linked frameshift mutation of dystrophin gene)

Question 17

“Cherry-red spots” on macula

Answer 17

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

Question 18

Chest pain on exertion

Answer 18

Angina (stable: with moderate exertion; unstable: with minimal exertion)

Question 19

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

Answer 19

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

Question 20

Child uses arms to stand up from squat

Answer 20

Duchenne muscular dystrophy (Gower sign)

Question 21

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

Answer 21

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

Question 22

Chorea, dementia, caudate degeneration

Answer 22

Huntington disease (autosomal dominant CAG repeat expansion)

Question 23

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

Answer 23

McArdle disease (muscle glycogen phosphorylase deficiency)

Question 24

Cold intolerance

Answer 24

Hypothyroidism

Question 25

Conjugate horizontal gaze palsy, horizontal diplopia

Answer 25

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

Question 26

Continuous “machine-like” heart murmur

Answer 26

PDA (close with indomethacin; open or maintain with PGE analogs)

Question 27

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

Answer 27

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

Question 28

Dark purple skin/mouth nodules in a patient with AIDS

Answer 28

Kaposi sarcoma, associated with HHV-8

Question 29

Deep, labored breathing/hyperventilation

Answer 29

Kussmaul respirations (diabetic ketoacidosis)

Question 30

Dermatitis, dementia, diarrhea

Answer 30

Pellagra (niacin [vitamin B3] deficiency)

Question 31

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 31

Wet beriberi (thiamine [vitamin B1] deficiency)

Question 32

Dog or cat bite resulting in infection

Answer 32

Pasteurella multocida (cellulitis at inoculation site)

Question 33

Dry eyes, dry mouth, arthritis

Answer 33

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 34

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 34

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

Question 35

Elastic skin, hypermobility of joints, increased bleeding tendency

Answer 35

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

Question 36

Enlarged, hard left supraclavicular node

Answer 36

Virchow node (abdominal metastasis)

Question 37

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 37

Mycosis fungiodes (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

Question 38

Facial muscle spasm upon tapping

Answer 38

Chvostek sign (hypocalcemia)

Question 39

Fat, female, forty, fertile, familial

Answer 39

Cholelithiasis (gallstones)

Question 40

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

Answer 40

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

Question 41

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 41

Measles

Question 42

Fever, night sweats, weight loss

Answer 42

B symptoms (staging) of lymphoma

Question 43

Fibrous plaques in soft tissue of penis with abnormal curvature

Answer 43

Peyronie disease (connective tissue disorder)

Question 44

Gout, intellectual disability, self-mutilating behavior in a boy

Answer 44

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

Question 45

Green-yellow rings around peripheral cornea

Answer 45

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Question 46

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 46

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

Question 47

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

Answer 47

Gaucher disease (glucocerebrosidase deficiency)

Question 48

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 48

Alport syndrome (mutation in collagen IV)

Question 49

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 49

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 50

Hyperreflexia, hypertonia, Babinski sign present

Answer 50

UMN damage

Question 51

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 51

LMN damage

Question 52

Hypoxemia, polycythemia, hypercapnia

Answer 52

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

Question 53

Indurated, ulcerated genital lesion

Answer 53

Nonpainful: chancre (primary syphilis, Treponema pallidum); Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 54

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

Answer 54

Patau syndrome (trisomy 13)

Question 55

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Answer 55

Niemann-Pick disease (genetic sphingomyelinase deficiency)