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Pathology/ Pathophysiology > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C. diff infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderischsen 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

Secondary to EPO 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

NF 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 pt 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

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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 syndrome in a young female

A

SLE

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18
Q

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

A

NF1

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19
Q

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

A

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

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20
Q

Calf pseudohypertropy

A

Muscular dystrophy

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21
Q

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

A

Kawasaki disease

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22
Q

“Cherry-red” spots on macula

A

Tay-Sachs or Niemann Pick, central retinal artery occlusion

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23
Q

Chest pain on exertion

A

Angina

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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 2wk -> several months after acute episode)

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25
Q

Chest pain with ST depression on EKG

A

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

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26
Q

Child uses arms to stand up from squat

A

Gowers sign- Duchenne muscular dystrophy

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27
Q

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

A

Erythema infectiosum/ 5th disease - parvo B19

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease

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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)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; may be uni- or bilateral

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33
Q

Continuous “machine-like” heart murmur

A

PDA

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

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

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (r-sided cardiac vavular lesions, increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in pt with AIDS

A

Kaposi sarcoma (assc. w/ HHV-8)

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37
Q

Deep, labored breathing/ hyperventilation

A

DKA (Kussmaul respiration)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (B3 (niacin) deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (B1 deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren Syndrome

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer Vinson Syndrome

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43
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

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

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
Q

Erythroderma, LAD, hepatosplenomegaly, atypical T cells

A

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

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47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat, female, forty, fertile

A

Cholelithiasis (gallstones)

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49
Q

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

A

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

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50
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to Cu accumulation)

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

56
Q

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

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome

59
Q

Hyperreflexia, hypertonia, Babinski sign

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis); Painful, with exudate: chancroid (Haemophilus ducreyi)

63
Q

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

A

Patau sundrome (trisomy 13)

64
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe

65
Q

Infant wit microcephaly, rocker-bottom feet, clenched hands, and structural heart defects

A

Edwards syndrome (trisomy 18)

66
Q

Jaundice, palpable distended, non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tixk bite (Lyme disease: borrelia)

68
Q

Lucid interval after TBI

A

Epidural hematoma (MMA rupture)

69
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

70
Q

Mucosal bleeding and prolonged bleeding time

A

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

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

Multiple colon polyps, osteomas/ soft tissue tumors, impacted/sub\ernumerary teeth

A

Gardner syndrome (subtype of FAP)

73
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

74
Q

Neonate with arm paralysis following difficult birth

A

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

75
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

77
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)

78
Q

Painful fingers/toes changing color from white to blue to red with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

Painful, raised lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

80
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabsesses)

81
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

82
Q

Palpable pupura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

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

83
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (auto dominant)

84
Q

Periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

85
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema

86
Q

Polyuria, renal tubular acidosis type II, growth failure electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome

87
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

88
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

89
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil- neurosyphilis

90
Q

Rapidly progessive limb weakness that ascends following GI/ upper respiratory infection

A

Guillain-Barre syndrome

91
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

92
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)

93
Q

Red “currant jelly” sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae pneumonia

94
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (children)

95
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

96
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

97
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

98
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson disease (loss of DA neurons in the substantia nigra pars compacta)

99
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

100
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

101
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

103
Q

Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

104
Q

Single palmar crease

A

Down syndrome

105
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

106
Q

Skin hyperpigmentation, hypotension, fatigure

A

Primary adrenocortical insufficiency (eg Addison disease) causes increased ACTH and increased alpha-MSH

107
Q

Slow progressive muscle weakness in boys

A

Becker muscular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)

108
Q

Small irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles [rubeola])

109
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata (secondary syphilis)

110
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

111
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease

112
Q

Streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45 XO)

113
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/ podagra (hyperuricemia)

114
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy

115
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

116
Q

Systolic ejection murmur, crescendo-decrescendo

A

Aortic stenosis

117
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)

118
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A

119
Q

Thyroid tumor, pheochromocytomas, ganglioneuromatosis

A

MEN 2B

120
Q

Toe extension/ fanning upon plantar scrape

A

Babinski sign (UMN lesion)

121
Q

Unilateral face drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

122
Q

Urethritis, conjuctivitis, arthritis in males

A

Reactive arthritis assc with HLA-B27

123
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but assc. w/ Struge-Weber syndrome)

124
Q

Vomiting blood following gastroesophageal laceration

A

Mallory Weiss syndrome (alcoholic and bulimic patients)

125
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

126
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

Pathology/ Pathophysiology (5 decks)

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