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Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (post hepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

Familia hypercholesterolemia (down LDL receptor signalling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Erythropoietin injection

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6
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral TB)

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7
Q

Bilateral hilar lymphadenopathy, uveitis

A

Sarcoidosis

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8
Q

Blue sclera

A

OI (collagen defect)

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9
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease (up osteoblastic/osteoclastic activity)

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11
Q

Bounding pulses, diastolic murmur, head bobbing

A

Aortic regurgitation

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12
Q

Butterfly rash, Raynaud’s phenomenon in young woman

A

SLE

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13
Q

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

A

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

Neurofibromatosis type II (+ bilateral acoustic neuromas)

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

A

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

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15
Q

Calf pseudohypertrophy

A

Musc dystrophy (usually Duchenne’s): X-linked recessive deletion of dystrophin gene

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16
Q

Cherry red spot on macula

A

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

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17
Q

Chest pain on exertion

A

Angina (stable: moderate exertion; unstable: minima exertion)

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18
Q

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

A

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

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19
Q

Child uses arms to stand up from squat

A

Gowers’ sign (Duchenne MD)

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20
Q

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

A

Erythema infectious; Parvovirus B19

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (Au-dom CAG repeat expansion)

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22
Q

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

A

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral (stroke))

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25
Q

Continuous machinery heart murmur

A

PDA (close with indomethacin, open with misoprostol)

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26
Q

cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves’ disease [periorbital])

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s Sarcoma (AIDS, HHV-8)

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28
Q

Deep labored breathing/hyperventilation

A

Kussmaul breathing (diabetic ketoacidosis)

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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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30
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi (thiamine [B1] deficiency)

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31
Q

Dog/cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation)

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32
Q

Dry eyes, dry mouth, arthritis

A

Sjorgren’s syndrome (autoimmune destruciton of exocrine glands)

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33
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (can go to esophageal SCC)

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34
Q

Elastic skin, joint hypermobility

A

Ehlers-Danlos syndrome (COL III defect)

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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (abdominal met)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides

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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fat, female, forty, fertile

A

Acute cholelithiasis (bile duct blockage)

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39
Q

Fever, chills, headache, myalgia following antibiotic for syphilis

A

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

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40
Q

Fever, cough, conjunctivitis, diffuse rash, Koplik

A

Measles (morbillivirus)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (lymphoma)

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

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

A

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

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44
Q

Green-yellow rings around peripheral cornea

A

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

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; up cancer risk)

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s disease (glucocerebrosidase deficiency)

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in alpha chain of COL IV)

48
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s syndrome (adenocarcinoma of pancreas or lung)

49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia, hypertonia, + babinski

A

UMN damage

51
Q

Hypertension, hypokalemia, metabolic alkalosis

A

Conn’s syndrome

52
Q

Hyporeflexia, hypotonia, atrophy

A

LMN damage

53
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue boater (chronic bronchitis; hyperplasia of mucous cells)

54
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (H. ducreyi)

55
Q

Infant fails to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori’s disease (debranching enzyme deficiency)

57
Q

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

A

Edwards’ syndrome (tri 18)

58
Q

Keratin perals on skin biopsy

59
Q

Large rash with bull’s eye appearance

A

erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

60
Q

Lucid interval after TBI

A

epidural hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

A

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

63
Q

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

A

Gardner’s syndrome (subtype of FAP)

64
Q

Myopathy (infantile hypertrohpic cardiomyopathy), exercise intolerance

A

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

65
Q

Necrotizing vasculitis (lungs and necrotizing glomerulonephritis

A

Wegener’s (c-ANCA positive) and Goodpasture’s syndromes (anti-basement membrane antibodies)

66
Q

Neonate with arm paralysis following difficult birth

A

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

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

68
Q

Nystagmus, intention termor, scanning pseech, bilateral internuclear ophthalmoplegia

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or up ICP)

70
Q

painful blue fingers/toes, hemolytic anemia

A

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

71
Q

Painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasm in extremities)

72
Q

Painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

75
Q

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

A

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

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dom)

77
Q

Pink complexion, dyspnea, hyperventilation

A

pink puffer (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency)

78
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

ACL injury

80
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

82
Q

Rapidly progressive leg weakness that ascends (following GI/URI)

A

Guillan Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, RMSF

84
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)

85
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s idsease of the breast (represents underlying neoplasm)

87
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

88
Q

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

A

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

89
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

90
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

91
Q

Severe jaundice in neonate

A

Crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)

92
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

93
Q

Short stature, up incidence of tumros/leukemia, aplastic anemia

A

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

94
Q

Single palm crease

A

Simian crease (Down syndrome)

95
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

96
Q

Skin hyperpigmentation

A

Addison’s disease (primary adrenocortical insufficiency causes up ACTH and alpha-MSH production)

97
Q

Slow, progressive muscle weakness in boys

A

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

98
Q

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

A

Koplik spots (measles; rubeola virus)

99
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata (secondary syphilis)

100
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

101
Q

Strawberry tongue

A

Scarlet fever ,Kawasaki disease, TSS

102
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

A

Turner syndrome (45X, short stature, webbed neck, lymphedema)

103
Q

Swollen gums, mucous bleeding, poor wound healing, spots on skin

A

Scurvy (vit C déficience: can’t hydroxylate proline/lysine for COL synthesis)

104
Q

Swollen, hard, painful finger joints

A

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

105
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

106
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

107
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

108
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

109
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy (LMN CN VII palsy)

110
Q

Urethritis, conjuctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

111
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome)

112
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

113
Q

“Waxy” casts with very low urine flow

A

Chronic end-stage renal disease

114
Q

WBC casts in urine

A

Acute pyelonephritis

115
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whippelii)

116
Q

Worst headache of my life

A

subarachnoid hemorrhage

Rapid Review (1 decks)

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