classic presentations 1 Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” ⊕

A

Anterior cruciate ligament injury

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7
Q

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

2° to erythropoietin injection

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9
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (^osteoblastic and osteoclastic activity)

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16
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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17
Q

“Butterfly” facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

18
Q

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type I

19
Q

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

Kawasaki disease (treat with IVIG and aspirin)

22
Q

“Cherry-red spots” on macula

A

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

23
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

25
Q

Chest pain with ST depressions on EKG

A

Unstable angina (⊝ troponins) or NSTEMI (⊕ troponins)

26
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

27
Q

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

A

Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

31
Q

Cold intolerance

A

Hypothyroidism

32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

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

33
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

37
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)