Classic Presentations Flashcards

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1
Q

Ab pain, diarrhea, leukocytosis

Recent antibiotic use

A

C.diff infection

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2
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia (decrease in LDL signaling)

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3
Q

Adrenal hemorrhage, hypoTN, DIC w N. meningitidis

A

Waterhouse-Friderichsen syndrome

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4
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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5
Q

Positive anterior drawer sign

A

Anterior cruciate ligament injury

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6
Q

Arachnodactyly, lens dislocation, aortic dissection, hyper flexible joints

A

Marfan syndrome (defective fibrin)

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7
Q

Athlete with polycythemia

A

Secondary to EPO injection

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8
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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9
Q

Bilateral acoustic shwannomas

A

Neurofibromatosis Type 2

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10
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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11
Q

Black eschar on face of pt with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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12
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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13
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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14
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of the bone (increase osteoblast and -clast activity)

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15
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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16
Q

Butterfly malar rash and Raynaud phenomenon in young female

A

Systemic Lupus Erythmatosus

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17
Q

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

Cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type 1

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18
Q

Ab pain, ascites, hepatomegaly

Absent JVD, mottled/nutmeg liver

A

Budd-Chiari Syndrome

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19
Q

Cafe-au-lait spots (unilateral), polyostic fibrous dysplasia

Precocious puberty, multiple endocrine abnormalities

A

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

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20
Q

Calf Pseudoypertrophy

A

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

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21
Q

Cervical lymphadenopathy, desquamating rash

Coronary aneurysms, red conjunctivae and tongue

A

Kawasaki disease (treat w IVIG and aspirin)

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22
Q

“Cherry red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

angina (stable = w moderate exertion, unstable = w 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; 2-12wks after acute episode

25
Q

Chest pain w ST-depressions on EKG

A

Unstable angina (troponins -) or NSTEMI (troponins +)

26
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne Muscular Dystrophy)

27
Q

Child w fever later develops rash on face that spreads to body

A

“Slapped cheeks” (erythema infectosium/fifth disease:parvovirus B19)

28
Q

Chorea (jerky, involuntary movements), dementia, caudate degeneration

A

Huntington disease (autosomal dominant CA repeat expansion)

29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

30
Q

Chronic exercise intolerance w myalgia, fatigue

painful cramps and myoglobinuria

A

McArdle Disease (Type V: skeletal muscle glycogen phosphorylase deficiency)

31
Q

Cold intolerance

A

Hypothyroidism

32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

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

33
Q

Continuous “machine-like” heart murmur

A

PDA (close w indomethacin; open/maintain w PGE)

34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroid; Graves disease [pretibial])

35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

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

36
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated w HHV-8

37
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [Vit B3] deficiency)

39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamin [Vit B1] deficiency)

40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

42
Q

Dysphagia (esophageal webs), glossitis, Iron deficiency anemia

A

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

43
Q

Elastic skin, hypermobile joints, increased bleeding tendency

A

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

44
Q

Enlarged , hard left supraclavicular node

A

Virchow node (abdominal metastasis)

45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

46
Q

Erythroderma, lymphadenopathy, hepatospenomegaly, atypical T cells

A

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

47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

48
Q

Fat, female, forty, and fertile

A

Cholelithiasis (gallstones)

49
Q

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

A

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

50
Q

Fever, cough, conjunctivitis, coryza (rhinitis), diffuse rash

A

Measles

51
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

52
Q

Fibrous plaques in soft tissue of penis w abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

54
Q

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

A

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

55
Q

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

A

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

56
Q

Hepatosplenomegaly, pancytopenia, osteoperosis, aseptic necrosis of femur, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)