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Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abd. pain, ascities, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abd. pain, diarrhea, leukocytosis, recent antibiotic use

A

C. Diff infxn

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3
Q

Achilles tendon xanthoma

A

Type IIa dyslipidemia Familial hypercholesterolemia- AD (Defective/absent LDL receptors - normal B-100 ligand)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (menigococcemia)

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5
Q

Anaphylaxis following blood transfusion, airway/GI infxns, autoimmune disease, atopy, majority asymptomatic

A

IgA deficiency (failed IgA B cell maturation - most common 1° immunodeficiency)

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6
Q

Anterior “Drawer” test

A

ACL 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 w/ 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

NF2 - Autosomal dominant - Merlin (schwannomin) protein on 22q

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11
Q

Bilateral hilar lymphadenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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12
Q

Black eschar on face of patient w/ diabetic ketoacidosis

A

Mucor or Rhizopus fungal infxn

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13
Q

Blue sclera

A

Osteogenesis imperfecta (Type 1 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 (3 stages: Lytic - osteoclastic; mixed - osteoclast/blastic; sclerotic - osteoblasts; quiescent - minimal osteoclast/blast activity) - “Breakdown, both, and growth”

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16
Q

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

A

Aortic regurgitation

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17
Q

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

A

SLE

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18
Q

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

A

NF1 (von Recklinghausen disease) - Autosomal dominant - Ras GTPase on 17q

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19
Q

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

A

McCune-Albright syndrome (Mutation in G-protein signaling - Pt. must be mosaic)

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20
Q

Calf pseudohypertrophy

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 conjunctive and tongue, hand-foor changes

A

Kawasaki disease (IVIG and ASA)

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22
Q

“Cherry-red spots” on macula

A

Tay-sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occulsion

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23
Q

Chest pain on exertion

A

Angina (stable w/ moderate exertion - goes away in 20 mintues or with nitro; unstable w/ minimal exertion or at rest - not relieved by nitro)

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24
Q

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

A

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

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25
Q

Chest pain w/ ST depression on EKG

A

Unstable angina (negative troponin) or NSTEMI (positive troponin)

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26
Q

Child uses arms to stand up

A

DMD - Gower’s sign

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27
Q

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

A

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

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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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 opthalmoplegia (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 (Presents as exopthalmos/pretibial myxedema in Graves disease or periorbital edema in Hashimoto’s thyroiditis)

35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (R. sided cardiac valvular lesions, elevated 5-HIAA)

36
Q

Meconium ileus at birth (inspissated green fecal mass in ileum)

A

CF (Although only 10-20% of infants w/ CF will have meconium ileus at birth, almost all born with meconium ileus will be Dx w/ CF.)

37
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma (due to HHV8)

38
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respiration)

39
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin - B3 - deficiency)

40
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine - B1 - deficiency)

41
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

42
Q

Dry eyes, dry mouth, arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

43
Q

Dysphagia (2° esophageal webs), glossitis, iron deficiency anemia

A

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

44
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

Ehlers-Danlos Syndrome (Type V collagen defect; Type III collagen defect in vascular subtype)

45
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

46
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

47
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

48
Q

Facial muscle spasm on tapping

A

Chvostek sign (hypocalcemia)

49
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

50
Q

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

A

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

51
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

4 C’s: cough, conjunctivitis, coryza, Koplik spots (white/blue sores in prodromal period)

52
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

53
Q

Fibrous plaques in soft tissues of penis with abnormal curvature

A

Peyronie disease (CT disorder)

54
Q

Golden brown rings around peripheral cornea

A

Wilson Disease (Kayser-Fleischer rings - copper accumulation)

55
Q

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

A

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

56
Q

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

A

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

57
Q

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

A

Gaucher disease (glucocerebroside deficiency)

58
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen 4)

59
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

60
Q

Hyperreflexia, hypertonia, Babinkski sign +

A

UMN damage (everything is up)

61
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

62
Q

Hypoxemia, polycythemia, hypercapnia

A

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

63
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful with exudate: chancroid (Haemophilus ducreyi)

64
Q

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

A

Patau syndrome (Trisomy 13)

65
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency)

VonGierke disease (G6PD, more severe)

66
Q

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

A

Edwards syndrome (Trisomy 18)

67
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distant malignant obstruction of biliary tree)

68
Q

Large rash with bull’s eye appearance

A

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

69
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (Middle meningeal artery rupture)

70
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

71
Q

Mucosal bleeding and prolonged bleeding time

A

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

72
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

73
Q

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

A

Gardner syndrome (subtype of FAP)

Rapid Review (6 decks)

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