Rapid Review - Classic Presentations (2)

Question 1

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 1

Wet beriberi (thiamine [vitamin B1] deficiency)

Question 2

Dog or cat bite resulting in infection

Answer 2

Pasteurella multocida (cellulitis at inoculation site)

Question 3

Dry eyes, dry mouth, arthritis

Answer 3

Sjögren syndrome (autoimmune destruction of exocrine glands)

Question 4

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 4

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

Question 5

Elastic skin, hypermobility of joints

Answer 5

Ehlers-Danlos syndrome (type III collagen defect)

Question 6

Enlarged, hard left supraclavicular node

Answer 6

Virchow node (abdominal metastasis)

Question 7

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 7

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

Question 8

Facial muscle spasm upon tapping

Answer 8

Chvostek sign (hypocalcemia)

Question 9

Fat, female, forty, and fertile

Answer 9

Cholelithiasis (gallstones)

Question 10

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

Answer 10

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

Question 11

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 11

Measles

Question 12

Fever, night sweats, weight loss

Answer 12

B symptoms (staging) of lymphoma

Question 13

Fibrous plaques in soft tissue of penis

Answer 13

Peyronie disease (connective tissue disorder)

Question 14

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

Answer 14

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

Question 15

Green-yellow rings around peripheral cornea

Answer 15

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Question 16

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Answer 16

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

Question 17

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Answer 17

Gaucher disease (glucocerebrosidase deficiency)

Question 18

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 18

Alport syndrome (mutation in collagen IV)

Question 19

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 19

Klüver-Bucy syndrome (bilateral amygdala lesion)

Question 20

Hyperreflexia, hypertonia, Babinski sign present

Answer 20

UMN damage

Question 21

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 21

LMN damage

Question 22

Hypoxemia, polycythemia, hypercapnia

Answer 22

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

Question 23

Indurated, ulcerated genital lesion

Answer 23

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 24

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

Answer 24

Patau syndrome (trisomy 13)

Question 25

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Answer 25

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Question 26

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Answer 26

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

Question 27

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

Answer 27

Edwards syndrome (trisomy 18)

Question 28

Jaundice, palpable distended non-tender gallbladder

Answer 28

Courvoisier sign (distal obstruction of biliary tree)

Question 29

Large rash with bull’s-eye appearance

Answer 29

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

Question 30

Lucid interval after traumatic brain injury

Answer 30

Epidural hematoma (middle meningeal artery rupture)