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1
Q

Abdominal Pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Achilles tendon Xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signalling)

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3
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Arachnodactly
Lens dislocation
Aortic dissection
Hyperflexible joints

A

Marfan’s syndrome (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 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 (collagen deficit)

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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 (increased osteoblastic and osteoclastic activity)

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11
Q

Bounding pulses
Diastolic murmur
Head bobbing

A

Aortic regurgitation

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12
Q

Butterly facial rash

Raynaud’s phenomenon in a young female

A

Systemic lupus erythematosus

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13
Q 
Cafe au lait spots
Lisch nodules (irish hemartoma)
A 
Neurofibromatosis 1 (+pheochromocytoma, optic gliomas)
Neurofibromatosis 2 (+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 signalling mutation)

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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly 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 (stable: moderate exertion; unstable: minimal 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

Gower’s sign (Duchenne muscular dystrophy)

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20
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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21
Q

Chorea
Dementia
Caudate degeneration

A

Huntington’s disease (autosomal dominant CAG repeat expansion)

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22
Q

Chronic exercise intolerance with myalgia
Fatique
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, Grave’s disease- periorbital)

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS patients)

Associated with 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 B3 deficiency)

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30
Q

Dilated cardiomyopathy
Edema
POlyneuropathy

A

Wet beri beri (thiamine B1 deficiency)

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocoida

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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

Dysphagea (esophageal webs)
Glossitis
Iron deficiency anemia

A

Plummer - Vinson syndrome - may progress to esophageal squamous cell carcinoma

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34
Q

Elastic skin

Hypermobility 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 metastasis)

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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 treatment for syphillis

A

Jarish - Herxheimer reaction (rapid lysis of spirochetes results 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 tissue of penis

A

Peyronie’s disease (connective tissue disorder)

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43
Q

Gout
Mental retardation
Self mutilating behaviour 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

Hyperpigmentaiton of mouth/feet/hands

A

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

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46
Q

Hepatosplenomegaly
Osteoporosis
Neurologic symptoms

A

Gaucher’s disease (glucocebresodiase deficiency)

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47
Q

Hereditary nephritis
Sensorineural hearing loss
cataracts

A

Alport syndrome (mutation in alpha chain of collagen IV)

48
Q

Hypercoagulability (leading to migrating DVTs and vasculitis)

A

Trousseu’s sign (adenocarcinoma of pancreas or lung)

49
Q

Hyperphagia
Hypersexuality
Hyperorality
Hyperocility

A

Kluver Bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia
Hypertonia
Positive Babinski sign

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 bloater (chronic bronchitis: hyperplasia of mucous cells)

54
Q

Indurated ulcerated genesion lesion

A

NOnpainful: chancre (primary syphillis,)

Painful, with exudate: chancroid (H. ducreyi).

55
Q

Infant with failure to thrive
Hepatosplenomegaly
Neurodegeneration

A

Niemann Pick disease (genetic sphingomyelinase deficiency)

56
Q

Infant with hypoglycemia
Failure to thrive
Hepatomegali

A

Cori’s disease (debranching enzyme deficiency)

57
Q

Infant with microcephaly
Rocker bottom feet
Clenched hands
structural heart defect

A

Edwards syndrome (trisomy 18)

58
Q

Keratin pearls on a skin biopsy

A

Squamous cell carcinoma

59
Q

Large rash with bull’s eye appearence

A

Erythema chronica migrans from Ixodes tick bite (lyme disease, Borrelia)

60
Q

Lucid interval after traumatic brain injury

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

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 tumours
Impacted supernumerary teeth

A

Gardner’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)
Necrotizing glomerulonephritis
A 
Wegener's c-ANCA positive
Goodpastures syndrome (anti basement membrane antibodies)
66
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury “waiter’s tip.”

67
Q

No latation postpartum
Absent menstruation
Cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

68
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

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

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 tumours

A

MEN 1 (autosomal dominant)

77
Q

Pink complexion
Dyspnea
Hyperventilation

A

Pink puffer

Emphysema: centroacinar (smoking), panacinar (alpha 1 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

Anterior cruciate ligament (ACL) injury

80
Q

Ptosis
Miosis
Anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

81
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphillis)

82
Q

Rapidly progressive leg weakness that ascents (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 syphillis
Rocky mountain spotted fever

84
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebshiella pneumoniae

85
Q

Red, itchy, swlollen rash or nipple/areola

A

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

86
Q

Red urine in the morning

Fragile RBC’s

A

Paroxysmal nocturbal hemoglobinuria

87
Q

Renal cell carcinoma (nilateral
hemagioblastomas
Angiomatosis
Pheochromocytoma

A

Von Hippel Lindau disease (dominant tumour suppressor gene mutation)

88
Q

Resting tremor
Rigidity
Akinesia
Postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

89
Q

Retinal hemorrhages with pale centers

A

Roth’s spots (bacterial endocarditis)

90
Q

Severe jaundice in neonate

A

Crigler - Najjar syndrome (congenital unconjugated hyperbilirubinemia)

91
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

92
Q

Short stature
Increased incidence of tumours/leukemia
Aplastic anemia

A

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

93
Q

Single palm crease

A

Simian crease (Down syndrome)

94
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

95
Q

Skin hyperpigmentation

A

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

96
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy (X linked missesense mutation in dystrophin, less severe then Duchenne’s)

97
Q

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

A

Koplik spots (measles, rubeola virus)

98
Q

Smooth

Flat, moist white lesions on genitals

A

Condylomata lata (secondary syphillis)

99
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

100
Q

Strawberry tongue

A

Scarlet fever
Kawasaki disease
Toxic shock syndrome

101
Q

Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth

A

Turner syndrome (45X0, short stature, webbed neck, lymphedema)

102
Q

Sudden swollen painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

103
Q

Swollen gums
Mucous bleeding
Poor would healing
Spots on wkin

A

Scurvy (vitamin C deficiency, can’t hydroxylate proline/lysine for collagen synthesis)

104
Q

Swollen
Hard
Painful finger joint

A

Osteoarthritis (osteophytes on PIP (Bouchard’s nodes), DIP - Heberdeen nodes)

105
Q

Systolic enection murmur (crescendo - decrescendo)

A

Aortic valve stenosis

106
Q

Thyroid
Parathyroid
Pheochromocytoma

A

MEN 2A (autosomal dominant, ret mutation)

107
Q

Thyroid tumours
Pheochromocytoma
Ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

108
Q

Toe extension/fanning upon plantar scrape

A

Babinskin sign (UMN lesion)

109
Q

Unilateral facial drooping involving forehead

A

Bells palsy (LMN CN VII palsy)

110
Q

Urethritis
Conjunctivitis
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

Vomitting 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

116
Q

Worst headache of my life

A

Subarachnoid hemorrhage.

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