Classic Presentations A--L

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-Chiari Syndrome (posthepatic veinous thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Question 3

Anterior “drawer” sign

Answer 3

ACL injury

Question 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 4

Marfan syndrome (fibrillin defect)

Question 5

Athlete w/ polycythemia

Answer 5

2/2 EPO injection

Question 6

Back pain, fever, night sweats, weight loss

Answer 6

Pott disease (vertebral TB)

Question 7

Bilateral hilar lymphadenopathy, uveitis

Answer 7

sarcoidosis (non caseating granulomas)

Question 8

Blue sclera

Answer 8

osteogenesis imperfecta (type 1 collagen defect)

Question 9

Bluish line on gingiva

Answer 9

Burton line (lead poisoning)

Question 10

Bone pain, bone enlargement, arthritis

Answer 10

Paget disease of bone (incr osteoblastic and osteoclastic activity)

Question 11

Bounding pulses, diastolic heart murmur, head bobbing

Answer 11

aortic regurgitation

Question 12

“butterfly” facial rash and raynaud phenomenon in a young female

Answer 12

SLE

Question 13

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

Answer 13

NF Type 1 (+pheochromocytoma, optic gliomas)

Question 14

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

Answer 14

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

Question 15

Calf pseudohypertrophy

Answer 15

muscular dystrophy (most commonly Duchenne): x-linked recessive deletion of dystrophin gene

Question 16

“cherry red spots” on macula

Answer 16

Tay sachs (ganglioside accumulation) or Niemann-pick (sphingomyelin accumulation), central retinal artery occlusion

Question 17

chest pain on exertion

Answer 17

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

Question 18

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

Answer 18

Dressler syndrome (auto-immune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Question 19

Child uses arms to stand up from squat

Answer 19

Gower’s sign (Duchenne muscular dystrophy)

Question 20

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

Answer 20

“slapped cheeks” (erythema infectiosum/5th disease; parvovirus B19)

Question 21

Chorea, dementia, caudate degeneration

Answer 21

Huntington disease (autosomal dominant CAG repeat expansion)

Question 22

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

Answer 22

McArdle disease (muscle glycogen phosphorylase deficiency)

Question 23

cold intolerance

Answer 23

Hypothyroidism

Question 24

Conjugate lateral gaze palsy, horizontal diplopia

Answer 24

Internuclear opthalmoplegia (damage to MLF; bilateral– multiple sclerosis, unilateral–stroke)

Question 25

continuous "machine-like" heart murmur

Answer 25

PDA (close with indomethacin; keep open with misoprostol--PGE2)

Question 26

Cutaneous/dermal edema due to connective tissue deposition

Answer 26

Myxedema (caused by hypothyroidism, Graves disease-pretibial myxedema)

Question 27

Dark purple skin/mouth nodules in a patient with AIDS

Answer 27

Kaposi sarcoma, associated with HHV-8

Question 28

Deep, labored breathing/hyperventilation

Answer 28

Kussmaul respirations (DKA)

Question 29

Dermatitis, dementia, diarrhea

Answer 29

Pellagra (niacin B3 deficiency)

Question 30

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 30

Wet beriberi (thiamine B1 deficiency)

Question 31

Dog or cat bite resulting in infection

Answer 31

Pasteurella multocida (cellulitis at inoculation site)

Question 32

Dry eyes, dry mouth, arthritis

Answer 32

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 33

Dysphagia (esophageal webs), glossitis, iron deficiency, anemia

Answer 33

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

Question 34

Elastic skin, hypermobility of joints

Answer 34

Ehler-Danlos syndrome (Type 3 collage defect)

Question 35

Enlarged, hard left supraclavicular node

Answer 35

Virchow node (abdominal metastasis)

Question 36

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 36

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

Question 37

Facial muscle spasm upon tapping

Answer 37

Chvostek sign (hypocalcemia)

Question 38

Fat, female, forty, fertile

Answer 38

Cholelithiasis (gallstones)

Question 39

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

Answer 39

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

Question 40

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 40

Measles

Question 41

Fever, night sweats, weight loss

Answer 41

B symptoms (staging) of lymphoma

Question 42

Fibrous plaques in soft tissue of penis

Answer 42

Peyronie disease (connective tissue disorder)

Question 43

Gout, intellectual disability, self-mutilating behavior in boy

Answer 43

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

Question 44

Green-yellow rings around peripheral cornea

Answer 44

Kayser-Fleischer rings (Cu accumulation from Wilson disease)

Question 45

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 45

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

Question 46

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Answer 46

Gaucher disease (glucocerebrosidase deficiency)

Question 47

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 47

Alport syndrome (mutation in collagen 4)

Question 48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 48

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 49

Hyperreflexia, hypertonia, Babinski sign present

Answer 49

UMN damage

Question 50

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 50

LMN damage

Question 51

Hypoxemia, polycythemia, hypercapnia

Answer 51

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

Question 52

Indurated, ulcerated genital lesion

Answer 52

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

Question 53

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

Answer 53

Patau Syndrome (trisomy 13)--decreased bHCG, decr PAPP-A, increased nuchal translucency

Question 54

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Answer 54

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Question 55

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 55

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

Question 56

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

Answer 56

Edwards syndrome (trisomy 18)--decreased PAPPA and free BhCG; quad screen: pan decreased AFP/bHCG/estriol/inhibin; inhibin can be normal

Question 57

Jaundice, palpable distended non-tender gallbladder

Answer 57

Courvoisier sign (distal obstruction of biliary tree)--indicative of non-gallstone pathology: pancreatic cancer, gallbladder cancer, cholangiocarcinoma, etc

Question 58

Large rash with bull's eye appearance

Answer 58

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

Question 59

Lucid interval after traumatic brain injury

Answer 59

Epidural hematoma (middle meningeal artery rupture)