Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd chiari syndrome (posthepatic venous thrombus)

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2
Q

Achilles tendon xanthoma

A

familial hypercholesterolemia (dec LDL receptor signaling)

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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 disection, hyperflexible joints

A

Marfans Syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

EPO injection

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6
Q

Backpain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral tuberculosis)

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7
Q

Bilateral hilar adenopathy, uveitis

A

sarcoidosis (noncaseating granulomas)

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8
Q

Blue Sclera

A

Osteogenesis Imperfecta (collegen I 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 of bone (inc osteblastic and osteoclastic activity)

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11
Q

Bounding pulse, diastolic heart murmur, arthritis

A

Aortic regurgitation

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12
Q

“butterfly” facial rash and raynauds phenomenon in a young female

A

systemic lupus erythematosus

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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, polyostolic fibrous dysplasia, precocious puberty

A

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

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15
Q

Calf pseudo-hypertrophy

A
Muscular Dystrophy (MC 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)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

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17
Q

Chest pain on exertion

A

Angina (staple: moderate exertion, unstable: minimal exertion)

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18
Q

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

A

Dressler’s syndrome

auto immune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode

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19
Q

Child uses arms to stand up from a squat

A

gowers sign

Duchenne muscular dystrophy

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20
Q

Child with fever develops a red rash on face that spread to body

A

“slapped checks” (erythma infectiousum/fifth disease: parvo B19)

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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease (autosomal dominant)

CAG repeat

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22
Q

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

A

McArdles disease (muscle glycogen phosphyrlase 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 opthalmoplegia (damage to MLF: bilateral [multiple sclerosis], unilateral [stroke])

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25
Q

Continuous “machinery” heart murmur

A

PDA

closes with indomethacin; open with misoprostol/PGE1

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, grave’s disease [periorbital]

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDs patient; 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 [vit B3] deficiency)

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30
Q

dilated cardiomyopathy, edema, polyneuropathy

A

wet beriberi (thiamine [vit B1] deficiency)

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31
Q

dog or cat bite resulting in infection

A

pasteurella multocida (cellulitis at inoculation site)

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32
Q

dry eyes, dry mouth, arthritis

A

sjogren’s syndrome

autoimmune destruction of exocrine glands

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33
Q

Dysphagia (esophageal webs) glossitis, iron deficiency anemia)

A

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

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34
Q

Elastic skin, hypermobility of of joints

A

Ehlers-Danlos Syndrome (Type III collagen defect)

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35
Q

Enlarged, hard left supraclavicular node

A

virchow’s node (abdominal mets)

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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 on tapping

A

Chvostek’s sign (hypocalcemia)

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38
Q

Fate, female, forty, fertile

A

Acute cholelithiasis (bile duct blockage)

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39
Q

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

A

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

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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

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 tissues of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

Gout, mental retardation, self-mutilation behavior in 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; inc cancer risk

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s Disease

glucocerebrosidase def

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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A
Alport syndrome
(mutation in alpha chain of collagen type 4)
48
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseau’s sign (adenocarcinoma of pancreas or lung)

49
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-bucy syndrome (bilateral amygdala lesion)

50
Q

hyperrefleia, hypertonia, positive babinski

A

UMN damgage

51
Q

Hypertension, hypokalemia, metabolic alkalosis

A

conn’s syndrome

52
Q

hyporeflexia, hypotonia, atrophy

A

LMN damage

53
Q

Hypoxemia, polycythemia, hyprcapnia

A

“Blue bloater”

Chronic bronchitis: hyperplasia of mucous cells)

54
Q

Indurated, ulcerated genital lesions

A

Nonpainful: chancre (Primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Hameophilus ducreyi)

55
Q

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Niemann-pick disease (genetic sphinogomyelinase deficiency)

56
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

cori’s disease (deb ranching enzyme deficiency)

57
Q

Infant with microcephaly, rocker bottom feet, clenche d hands, and structural heart defect

A

Edward’s syndrome (trisomy 18)

58
Q

Keratin pearls on skin biopsy

A

Squamous cell carcinoma

59
Q

Large rash with bull’s-eye apperance

A

Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia)

60
Q

Lucid interval after traumatic brain injury

A

Epidermal hematoma (MMA rupture)

61
Q

Male child, recurrent infections, no mature B cells

A

Burton’s disease (x-linked agammaglobininemia)

62
Q

Mucousal bleeding and prolonged bleeding time

A

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

63
Q

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

A

Garner’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

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A

Wegeners (C-ANCA)

Goodpastures (anti-basement membrane ABs)

66
Q

Neonate with arm paralysis following difficult birth

A

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

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

68
Q

Nystagmus, intention tremor, scannin speech, bilateral intranuclear opthalmoplegia

A

Multiple Sclerosis

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respiration

central apnea in CHF or Inc intracranial pressure

70
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutination disease

autoimmune hemolytic anemia by M. penumoniae, infectious mononucleosis

71
Q

painful, pale, cold fingers/toes

A

Raynaud’s syndrome (vasospasms in extremities)

72
Q

Painful raised red lesions on palms and soles

A

Osler’s nodes

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 obstucting the bile duct

75
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis affecting kidney’s)

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

77
Q

Pink complexion, dyspnea, hyperventilation

A

“pink puffer” (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin def])

78
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament (ACL) injury

80
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

Pupil accommodates but doesn’t react

A

Argyll Roberson pupil (neurosyphilis)

82
Q

Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)

A

Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie a, Secondary syphalis, rocky mountain spotted fever

84
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

85
Q

Red “current jelly” sputum in alcoholic or diabetic pt

A

Klebsiella pneumoniae

86
Q

Red, itchy, swollen rash of nipple/areola

A

paget’s disease 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, anigomatosis, pheochromocytoma

A

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

89
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

90
Q

Retinal hemorrhages with pale center

A

Roth’s spots (bacterial endocarditis)

91
Q

Sever jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjucated hyperbilirubinemia)

92
Q

Sever RLQ apin with rebound tenderness

A

McBurney’s Sign (appendicitis)

93
Q

Short Stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemai (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 sinusitisus, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

96
Q

Skin hyperpigmentation

A

Addison’s disease

primary adrenocortical insufficiency causes inc ACTH and alpha-MSH production

97
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (x-linked missnese mutation in dystrophin; less severe thean 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, kawaski disease, toxic shock syndrome

102
Q

steak ovaries, congenital heart disease , horeshoe kidney, cystic hygroma at birth

A

Turner Syndrome (45XO, short stature, webbed neck, lymphedema)

103
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

104
Q

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

A

Scurvy (vit C def: can’t hydoxylate proline/lysine for collagen synth)

105
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP [bouchard’s nodes], DIP [heberden’s nodes]

106
Q

systolic ejection murmur (creschendo-decrescendo)

A

Aortic valve stenosis

107
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

108
Q

Thyroid tumor, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (automal dominant ret mutation)

109
Q

Toe extension/fanning upon plantar scrape

A

Babinski Sign (UMN lesion)

110
Q

Unilateral facial drooping involving forehead

A

Bell’s Palsy (LMN CN VII palsy)

111
Q

Urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

112
Q

Vascular birthmark (port-wine-stain)

A

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

113
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-weiss Syndrome (alcoholic and bulimic patients)

114
Q

“waxy” casts with very low urine flow

A

chronic end stage renal disease

115
Q

WBC casts in urine

A

Acute Pyelonephritis

116
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (tropheryma whippelii)

117
Q

“worst headache of my life”

A

subarachnoid hemorrhage