Classic Presentations Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome (posthepatic venous sinus thrombosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decrease LDL receptor signaling)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfans syndrome (fibrillin defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Athlete with polycythemia

A

2* to erythropoietin injection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (increase osteoblastic & osteoclastic activity)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

“butterfly” facial rash and Raynaud’s phenomenon in a young female

A

Systemic lupus erythematosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

A

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion dystrophin gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

“Cherry-red spot” on macula

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Chest pain upon exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

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

A

Dressler’s Syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Child uses arms to stand up from squat

A

Gower’s sign (Duchenne Muscular dystrophy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

“slapped cheeks” (erythema infectious/fifth disease: parvovirus 19)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (Autosomal dominant CAG repeat expansion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Cold intolerance

A

Hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Continuous, “machinery” heart murmur

A

PDA (close with indomethacin; open or maintain with misoprostol)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Grave’s disease [pretibial])

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Dermatitis, dementia, diarrhea

A

Pellegra (niacin [vit B3] deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vit B1] deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome (autoimmune destruction of exocrine glands)

33
Q

Elastic skin, hyper mobility of joints

A

Ehlers-Danlos syndrome (type III collagen defect)

34
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal SCC)

35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal metastasis)

36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

38
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

39
Q

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

A

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

40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (morbillivirus)

41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

42
Q

Fibrous plagues in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

43
Q

Gout, mental retardation, self-mutilating behavior in a boy

A

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

44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

45
Q

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

A

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

46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

49
Q

Hyperreflexia, hypertonia, babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

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

52
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre: (primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (H. ducreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (deb ranching enzyme deficiency)

56
Q

Infant with microcephaly, rocker-bottoms feet, clenched hands, and structured heart defect

A

Edwards’ syndrome (trisomy 18)

57
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction biliary tree)

58
Q

Large rash with bull’s-eye appearance

A

Erythema chronic migraines from Ixodes tick bite (Lyme disease: Borrelia)

59
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery)

60
Q

male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

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

62
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

63
Q

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

A

Gardner’s syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (lysosomal alpha-1,4-glucosidase deficiency)

65
Q

Neonate with arm paralysis following difficult birth

A

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

66
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple Sclerosis

68
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes Respirations (central apnea in CHF or increased ICP)

69
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, mono)

70
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospasm in extremities)

71
Q

Painful, red lesions on pad of fingers/toes

A

Osler’s node (infective endocarditis, immune complex deposition)

72
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesion (infective endocarditis, septic emboli/microabcesses)

74
Q

Palpable purpura on butt/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

75
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

76
Q

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

77
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha 1 antitrypsin deficiency)