Classic Presentations II

Question 1

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

Answer 1

McArdle Disease (Skeletal muscle glycogen phosphorylase deficiency)

Question 2

Cold intolerance

Answer 2

Hypothyroidism

Question 3

Conjugate horizontal gaze palsy, horizontal diplopia

Answer 3

Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)

Question 4

Continuous machine-like murmur

Answer 4

PDA (close with indomethacin; open with PGE analogs)

Question 5

Cutaneous/dermal edema due to connective tissue deposition

Answer 5

Myxedema (caused by hypothyroidism, Graves disease if pretibial)

Question 6

Cutaneous flushing, diarrhea, bronchospasm

Answer 6

Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)

Question 7

Dark purple skin/mouth nodules in AIDS patient

Answer 7

Kaposi sarcoma, associated with HHV-8

Question 8

Deep, labored breathing/hyperventilation

Answer 8

Kussmaul respirations (diabetic ketoacidosis)

Question 9

Dermatitis, dementia, diarrhea

Answer 9

Pallagra (niacin (B3) deficiency)

Question 10

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Answer 10

Wet beriberi (thiamine (B1) deficiency)

Question 11

Dog or cat bite resulting in infection

Answer 11

Pasteurella multocida (cellulitis at inoculation site)

Question 12

Dry eyes, dry mouth, arthritis

Answer 12

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 13

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 13

Plummer-Vinson syndrome (may progress to esophageal SCC)

Question 14

Elastic skin, hypermobility of joints, increased bleeding tendency

Answer 14

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

Question 15

Enlarged, hard left supraclavicular node

Answer 15

Virchow node (abdominal metastases)

Question 16

Episodic vertigo, tinnitus, hearing loss

Answer 16

Meniere disease

Question 17

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 17

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

Question 18

Facial muscle spasm upon tapping

Answer 18

Chvostek sign (hypocalcemia)

Question 19

Fat, female, forty, and fertile

Answer 19

Cholelithiasis (gallstones)

Question 20

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

Answer 20

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

Question 21

Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash

Answer 21

Measles

Question 22

Fever, night sweats, weight loss

Answer 22

B symptoms (staging) of lymphoma

Question 23

Fibrous plaques in soft tissue of penis with abnormal curvature

Answer 23

Peyronie disease (connective tissue disorder)

Question 24

Golden brown rings around peripheral cornea

Answer 24

Kayser Fleischer rings (copper accumulation from Wilson disease)

Question 25

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

Answer 25

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

Question 26

Hamartomatous GI polyps, hyperpigmentation of mouth/feed/hands/genitalia

Answer 26

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

Question 27

Hepatosplenomegaly, pancytopenia, osteoporosis, asepctic necrosis of femur, bone crises

Answer 27

Gaucher disease (glucocerebrosidase deficiency)