Clinical Presentations

Question 1

Adrenal hemorrhage, hypotension, DIC

Answer 1

Waterhouse-Friderichsen syndrome (meningococcemia)

Question 2

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Answer 2

Marfan syndrome (fibrillin defect)

Question 3

Back pain, fever, night sweats, weight loss

Answer 3

Pott disease (vertebral TB)

Question 4

Bilateral hilar adenopathy, uveitis

Answer 4

Sarcoidosis

Question 5

Blue sclera

Answer 5

osteogenesis imperfecta (type I collagen defect)

Question 6

bluish line on gingiva

Answer 6

Burton line (lead poisoning)

Question 7

bone pain, bone enlargement, arthritis

Answer 7

Paget disease

Question 8

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

Answer 8

neurofibromatosis type I (+pheochromocytoma, optic gliomas)

Question 9

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

Answer 9

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

Question 10

Calf pseudohypertrophy

Answer 10

Muscular dystrophy (Duchenne)

Question 11

“Cherry-red spots” on macula

Answer 11

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

Question 12

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

Answer 12

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)

Question 13

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

Answer 13

McArdle disease (muscle glycogen phosphorylase deficiency)

Question 14

Cold intolerance

Answer 14

hypothyroidism

Question 15

Conjugate lateral gaze palsy, horizontal diplopia

Answer 15

internuclear opthalmoplegia (damage to MLF; bilteral (MS), unilateral (stroke))

Question 16

continuous machine-like murmur

Answer 16

PDA

Question 17

cutaneous/dermal edema due to connective tissue deposition

Answer 17

myxedema (caused by hypothyroidism, Graves disease)

Question 18

deep, labored breathing/hyperventiliation

Answer 18

Kussmaul respirations (diabetic ketoacidosis)

Question 19

dermatitis, dementia, diarrhea

Answer 19

pellagra (niacin (B3) deficiency)

Question 20

dilated cardiomyopathy, edema, alcoholism, malnutrition

Answer 20

wet beriberi (thiamine (B1) deficiency)

Question 21

dog or cat bite results in infection

Answer 21

Pasteurella multocida (cellulitis at inoculation site)

Question 22

dry eyes, mouth, arthritis

Answer 22

Sjogren syndrome

Question 23

dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 23

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

Question 24

elastic skin, hypermobility of joints

Answer 24

Ehler Danlos type III collagen defect

Question 25

enlarged, hard left supraclavicular node

Answer 25

Virchow node (abdominal metastasis)

Question 26

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 26

Mycosis fungoides or Sezary syndrome

Question 27

facial muscle spasm when you tap

Answer 27

Chvostek sign (hypocalcemia)

Question 28

fever, chills, HA, myalgia after antibiotic treatment for syphilis

Answer 28

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

Question 29

fibrous plaques in soft tissue of penis

Answer 29

Peyronie disease (connective tissue disorder)

Question 30

gout, MR, *self-mutilation* in boy

Answer 30

Lesch-Nyhan (HGPRT deficiency, X-linked recessive