Rapid Review - Classic Presentations Flashcards

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1
Q

Abdominal pan, ascites, hepatomegaly

A

Budd-Chiari (post-hepatic venous thrombosis)

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2
Q

Achilles Tendon Xanthoma

A

Familial Hypercholesterolemia Fucked up LDLR

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3
Q

Adrenal Hemorrhage, hypotension, DIC

A

Waterhouse Friederichsen Syndrome, Meningococcus

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan Syndrome

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5
Q

Athlete with Polycythemia

A

EPO injection

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6
Q

Back Pain, Fever, Night Sweats, Weight Loss

A

Pott’s disease

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7
Q

Bilateral hular adenopathy, uveitis

A

Sarcoidosis

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8
Q

Blue Sclerae

A

Osteogenesis imperfecta; Collagen 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; Up osteoblastic and osteoclastic activity (osteoclast problem)

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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic Regurgitation

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12
Q

Butterfly Facial rash, Raynaud’s in a young female

A

SLE

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13
Q

Café au lait spots, Lisch nodules (iris hamartomas)

A

NF1 (+ pheo, optic glioma)

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14
Q

Café au lait spots, Lisch nodules (iris hamartomas)

A

NF2 (Bilateral acoustic gliomas)

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15
Q

Café au lait spots, polyostic fibrous dysplasia, precocious puberty

A

McCune Albright Syndrome, Mosaic G-protein signaling mutation

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16
Q

Calf Pseudohypertrophy

A

Muscular dystrophy; X-linked recessive deletion in Dystrophin gene

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17
Q

Cherry-red spot on macula

A

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

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18
Q

Chest pain on exertion

A

Angina; Stable: moderate exertion, unstable: minimal exertion

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19
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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20
Q

Child uses arms to stand up from squat

A

Gower’s sign (think Duchenne muscular dystrophy)

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21
Q

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

A

“slapped cheeks” Erythema infectiosum/fifth disease; Parvovirus B19

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22
Q

Chorea, dementia, caudate degeneration

A

Huntingon’s disease; AD CAG repeat expansion

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23
Q

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

A

McArdle’s disease; Myophosphorylase deficiency, Glycogen storage disorder type V

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24
Q

Cold intolerance

A

Hypothyroidism

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25
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

INO (damage to MLF) 2/2 MS if bilateral, stroke if unilateral

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26
Q

Continuous “machinery-like” murmur

A

PDA; (close with indomethacin, open with misoprostol)

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27
Q

cutaneous/dermal edema due to connective tissue deposition

A

Myxedema- caused by hypothyroidism. Periorbital? think Grave’s

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28
Q

Dark Purple skin/mouth nodules

A

Kaposi Sarcoma; Seen in AIDS, caused by HHV-8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul Breathing (DKA)

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30
Q

Dermatitis, dementia, diarrhea

A

Pellagra; Niacin (B3) deficiency

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31
Q

Dilated CM, edema, polyneuropathy

A

wet beriberi; Thiamine (B1) deficiency

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32
Q

Dog/cat bote resulting in infection

A

Pasteurella Multocida; Cellulitis at inoculation site

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33
Q

Dry eyes, dry mouth, arthritis

A

Sjögren’s syndrome; Autoimmune destruction of exocrine glands

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34
Q

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

A

Plummer-Vinson Syndrome- can progress to esophageal SCC)

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35
Q

Elastic skin, hypermobility of joints, bad healing

A

Ehlers-Danlos syndrome; Collagen III defect

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node; Abdominal mets

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37
Q

Erythroderma, LAD, HSM, atypical T cells

A

Sézary syndrome (T-cell lymphoma) or mycosis fungoides

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38
Q

Facial muscle spasm upon tapping

A

Chvostek sign; Hypocalcemia

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39
Q

Fat, Female, Forty, Fertile

A

Acute cholelithiasis

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40
Q

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

A

jarisch-Herxheimer reaction; Rapid spirochete lysis causes release of toxin)

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41
Q

Fever, Cough, Conjunctivitis, Coryza, diffuse rash

A

Measles; Morbillivirus

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42
Q

Fever, night sweats, weight loss

A

B symptoms; Lymphoma

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43
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease; connective tissue disorder

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44
Q

Gout, MR, self-mutilating behavior in a boy

A

Lesch Nyhan syndrome; HGPRT deficiency, X-linked, recessive

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45
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings, wilson’s disease

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46
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome, genetic benign polyposis can cause bowel obstruction, increased cancer risk

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47
Q

HSM, osteoporosis, neuro Sxs

A

Gaucher’s disease; Glucocerebrase deciciency, also think Ashkenazi Jews

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48
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport’s syndrome; Mutation of alpha chain in collagen IV

49
Q

Hypercoagulability, migratory DVTs and vasculitis

A

Trousseau’s sign (adenocarcinoma of the pancreas or lung)

50
Q

Hyperphagia, hypersexuality, hyperorality, Hyperdocility

A

Klüver-Bucy syndrome; Bilateral amygdala lesion

51
Q

Hyperreflexia, hypertonia, Babinski

A

UMN damage

52
Q

Hypertension, Hypokalemia, Metabolic Alkalosis

A

Conn syndrome

53
Q

Hyporeflexia, hypotonia, atrophy

A

LMN damage

54
Q

hypoxemia, polycythemia, hypercapnia

A

Chronic Bronchitis-Blue bloater, hyperplasia of mucous cells

55
Q

Indurated, ulcerated genital lesion

A

Non painful: chancre (1o syph), painful, with exudate: chancroid (haemophilus ducreyi)

56
Q

Infant with FTT, HSM, nerodegeneration

A

Niemann-Pick disease; Genetic sphingomyelinase deficiency, Ashkenazi Jews

57
Q

Infant with hypoglycemia, FTT, and hepatomegaly

A

Cori’s Dz- Debranching enzyme deficiency

58
Q

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

A

Edward’s syndrome, trisomy 18

59
Q

Keratin Pearls on a skin biopsy

A

SCC

60
Q

Large rash with bull’s eye apperance

A

Erythema Chronicum migrans from ixodes tick bite, lyme disease, borrelia

61
Q

Lucid interval after TBI

A

Epidural Hematoma- middle meningeal artery

62
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s dz’ X-linked agammaglobulinemia

63
Q

Mucosal bleeding, prolonged bleeding time

A

Glanzmann’s thrombasthenia; defect in GPIIb/IIIa

64
Q

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

A

Gardner’s syndrome; subtype of FAP

65
Q

Myopathy, infantile hypertrophic CM, exercise intolerance

A

Pompe’s dz; lysosomal alpha1,4 glucosidase deficiency

66
Q

Necrotizing vasculitis (lungs) and necrotizing GN

A

Wegener’s (c-ANCA) and Goodpasture’s dz (anti BM abs)

67
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy; superior trunk brachial plexus injury; waiter’s tip

68
Q

No lactation post-partum absent menstruation, cold intolerance

A

Sheehan’s syndrome; pituitary infarction

69
Q

Nystagmus, intention tremor, scanning speech, bilateral INO

A

MS

70
Q

Oscilating slow/fast breathing

A

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

71
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma, infectious mono)

72
Q

Painful, pale, cold fingers/toes

A

Raynaud’s

73
Q

Painful, raised red lesions on palms and soles

A

Osler’s nodes (SBE)

74
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (SBE)

75
Q

Painless Jaundice

A

Pancreatic Head adenocarcinoma obstructing bile duct

76
Q

Child with palpable purpura on buttocks/legs, joint pain, abdominal pain

A

Henoch-Schönlein purpura; IgA vasculitis affecting skin and kidneys

77
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I (AD)

78
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema; pink puffer; centroacinar from smoking, panacinar from alpha1-antitrypsin deficiency

79
Q

Polyuria, acidosis, growth failure, electrolyte imbalance

A

Fanconi’s syndrome (proximal tubular reabsoprtion defect)

80
Q

Positive anterior drawer sign

A

ACL injury

81
Q

Ptosis, miosis, anhydrosis

A

horner’s syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but doesn’t react

A

Argyll-Robertson pupil (neurosyphilis)

83
Q

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

A

Guillain-Barré syndrome; autoimmune acute inflammatory demyelinating polyneuropathy

84
Q

Rash on palms and soles

A

Coxsacke A, 2 syphilis, Rocky Mountain Spotted Fever

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper IgE syndrome (Job’s syndrome; neutrophil chemotaxis abnormality)

86
Q

Red currant jelly sputum in alcoholic or DM pt

A

Klebsiella pneumoniae

87
Q

Red, itchy, swollen rash of nipple/areola

A

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

88
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

89
Q

Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheo

A

von Hippel-Landau dz; dominant tumor suppressor gene mutation

90
Q

Resting Tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease; nigrostriatal dopamine delpletion

91
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (SBE)

92
Q

Severe jaundice in a neonate

A

Crigler-Najjar syndrome; congenital unconjugated hyperbilirubinemia

93
Q

severe RLQ pain (Mc Burney’s point) with rebound tenderness

A

Appendicitis

94
Q

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

A

fanconi’s anemia: genetic loss of DNA cross-link repair; often progresses to AML

95
Q

Single palm crease

A

simian crease in Down syndrome

96
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome: dynein arm defect affecting cilia

97
Q

skin hyperpigmentation

A

Addison’s disease (1o adrenocortical insufficiency causes increased ACTH and MSH production)

98
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy: X-linked missense mutation in dystrophin, less severe than duchenne’s)

99
Q

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

A

Koplik spots (measles; rubeola virus)

100
Q

Smooth, flat, moist white lesions on genitals

A

condylomata lata (2o syphilis)

101
Q

Splinter hemorrhages in fingernails

A

SBE

102
Q

Strawberry tongue

A

Scarlet fever, Kawasaki, Toxic Shock Syndrome

103
Q

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

A

Turner syndrome: 45XO, short stature, webbed neck, lymphedema, coarctation

104
Q

Sudden swollen/painful big toe joint, tophi

A

Podagra/gout

105
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

106
Q

Osteophytes on PIP

A

Bouchard’s nodes

107
Q

Osteophytes on DIP

A

Heberden’s nodes

108
Q

Systolic ejection murmur (crescendo decrescendo)

A

Aortic Stenosis

109
Q

Parathyroid and Thyroid (medullary) tumors, Pheochromocytoma

A

MEN 2A: AD ret mutation

110
Q

Ganglioneuromas, Marfanoid habitus, Thyroid tumors (medullary), Pheo

A

MEN 2B: AD ret mutation

111
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy; LMN CN CVII palsy

112
Q

Urethritis, Conjunctivitis, Arthritis in a male

A

Reactive arthritis; associated with HLA B-27 (MHC-I)

113
Q

Infant with port-wine stain in V1, seizures, glaucoma

A

Sturge-Weber syndrome

114
Q

Vomiting blood following esophagogastric laceration

A

Mallory-Weiss syndrome (EtOH, Bulimia)

115
Q

“Waxy” casts with very low urine flow

A

Chronic ESRD

116
Q

WBC casts in urine

A

Acute Pyelo

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (trophyrema whippelii)

118
Q

Worst headache of life

A

SAH