classic presentations 2

Question 1

Dry eyes, dry mouth, arthritis

Answer 1

Sjögren syndrome (autoimmune destruction of exocrine glands)

Question 2

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 2

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

Question 3

Elastic skin, hypermobility of joints,bleeding tendency

Answer 3

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

Question 4

Enlarged, hard left supraclavicular node

Answer 4

Virchow node (abdominal metastasis)

Question 5

Episodic vertigo, tinnitus, hearing loss

Answer 5

Meniere disease

Question 6

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 6

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

Question 7

Facial muscle spasm upon tapping

Answer 7

Chvostek sign (hypocalcemia)

Question 8

Fat, female, forty, and fertile

Answer 8

Cholelithiasis (gallstones)

Question 9

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

Answer 9

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

Question 10

Fever, cough, conjunctivitis, coryza, diffuse rash

Answer 10

Measles

Question 11

Fever, night sweats, weight loss

Answer 11

B symptoms (staging) of lymphoma

Question 12

Fibrous plaques in soft tissue of penis with abnormal curvature

Answer 12

Peyronie disease (connective tissue disorder)

Question 13

Golden brown rings around peripheral cornea

Answer 13

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

Question 14

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

Answer 14

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

Question 15

Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia

Answer 15

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

Question 16

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

Answer 16

Gaucher disease (glucocerebrosidase deficiency)

Question 17

Hereditary nephritis, sensorineural hearing loss, cataracts

Answer 17

Alport syndrome (mutation in collagen IV)

Question 18

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 18

Klüver-Bucy syndrome (bilateral amygdala lesion)

Question 19

Hyperreflexia, hypertonia, Babinski sign present

Answer 19

UMN damage

Question 20

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 20

LMN damage

Question 21

Hypoxemia, polycythemia, hypercapnia

Answer 21

Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)

Question 22

Indurated, ulcerated genital lesion

Answer 22

Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)

Question 23

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

Answer 23

Patau syndrome (trisomy 13)

Question 24

Infant with hypoglycemia, hepatomegaly

Answer 24

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

Question 25

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

Answer 25

Edwards syndrome (trisomy 18)

Question 26

Jaundice, palpable distended non-tender gallbladder

Answer 26

Courvoisier sign (distal malignant obstruction of biliary tree)

Question 27

Large rash with bull’s-eye appearance

Answer 27

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

Question 28

Lucid interval after traumatic brain injury

Answer 28

Epidural hematoma (middle meningeal artery rupture)

Question 29

Male child, recurrent infections, no mature B cells

Answer 29

Bruton disease (X-linked agammaglobulinemia)

Question 30

Mucosal bleeding and prolonged bleeding time

Answer 30

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Question 31

Muffled heart sounds, distended neck veins, hypotension

Answer 31

Beck triad of cardiac tamponade

Question 32

Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth

Answer 32

Gardner syndrome (subtype of FAP)

Question 33

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 33

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

Question 34

Neonate with arm paralysis following difficult birth

Answer 34

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)

Question 35

No lactation postpartum, absent menstruation, cold intolerance

Answer 35

Sheehan syndrome (pituitary infarction)

Question 36

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Answer 36

Multiple sclerosis

Question 37

Painful blue fingers/toes, hemolytic anemia

Answer 37

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

Question 38

Painful fingers/toes changing color from blue to white to red with cold or stress

Answer 38

Raynaud phenomenon (vasospasm in extremities)

Question 39

Painful, raised red lesions on pads of fingers/toes

Answer 39

Osler nodes (infective endocarditis, immune complex deposition)

Question 40

Painless erythematous lesions on palms and soles

Answer 40

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)