Classic presentation Flashcards
(116 cards)
1
Q
Abdominal Pain
Ascites
Hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon Xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signalling)
3
Q
Adrenal hemorrhage
Hypotension
DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactly
Lens dislocation
Aortic dissection
Hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Erythropoietin injection
6
Q
Back pain
Fever
Night sweats
Weight loss
A
Pott’s disease (vertebral tuberculosis)
7
Q
Bilateral hilar adenopathy
Uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (collagen deficit)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain
Bone enlargement
Arthritis
A
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses
Diastolic murmur
Head bobbing
A
Aortic regurgitation
12
Q
Butterly facial rash
Raynaud’s phenomenon in a young female
A
Systemic lupus erythematosus
13
Q
Cafe au lait spots Lisch nodules (irish hemartoma)
A
Neurofibromatosis 1 (+pheochromocytoma, optic gliomas) Neurofibromatosis 2 (+bilateral acoustic neuromas)
14
Q
Cafe au lait spots
POlyostotic fibrous dysplasia
Precocious puberty
A
McCune-Albright syndrome (mosaic G protein signalling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s) X linked recessive deletion of dystrophin gene.
16
Q
Cherry red spot on macula
A
Tay Sachs (ganglioside accumulation) Niemann Pick (sphingomyelin accumulation) central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable: moderate exertion; unstable: minimal exertion)
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).
19
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy)
20
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheeks
Erythema infectiosum/fifth disease parvovirus B19
21
Q
Chorea
Dementia
Caudate degeneration
A
Huntington’s disease (autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia
Fatique
Painful cramps
Myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
hypothyroidism
24
Q
Conjugate lateral gaze palsy
Horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral MS, unilateral = stroke)
25
Continuous machinery heart murmur
PDA (close with indomethacin: open with misoprostol).
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave's disease- periorbital)
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients)
| Associated with HHV-8
28
Deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis
Dementia
Diarrhea
Pellagra (niacin B3 deficiency)
30
Dilated cardiomyopathy
Edema
POlyneuropathy
Wet beri beri (thiamine B1 deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocoida
32
Dry eyes
Dry mouth
Arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagea (esophageal webs)
Glossitis
Iron deficiency anemia
Plummer - Vinson syndrome - may progress to esophageal squamous cell carcinoma
34
Elastic skin
| Hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma
Lymphadenopathy
Hepatosplenomegaly
Atypical T cells
Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat
Female
Forty
Fertile
Acute cholelithiasis (bile duct blockage)
39
Fever
Chills
headache
myalgia following antibiotic treatment for syphillis
Jarish - Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
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Fever
Cough
Conjunctivitis
Coryza
Diffuse rash
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Measles (Morbillivirus)
41
Fever
night sweats
weight loss
B symptoms (lymphoma)
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout
Mental retardation
Self mutilating behaviour in a boy
Lesch Nyhan syndrome (HGPRT deficiency, X linked recessive)
44
Green yellow rings around peripheral cornea
Kayser - Fleischer rings (copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps
| Hyperpigmentaiton of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk)
46
Hepatosplenomegaly
Osteoporosis
Neurologic symptoms
Gaucher's disease (glucocebresodiase deficiency)
47
Hereditary nephritis
Sensorineural hearing loss
cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
48
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseu's sign (adenocarcinoma of pancreas or lung)
49
Hyperphagia
Hypersexuality
Hyperorality
Hyperocility
Kluver Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia
Hypertonia
Positive Babinski sign
UMN damage
51
Hypertension
Hypokalemia
Metabolic alkalosis
Conn's syndrome
52
Hyporeflexia
Hypotonia
Atrophy
LMN damage
53
Hypoxemia
Polycythemia
Hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
54
Indurated ulcerated genesion lesion
NOnpainful: chancre (primary syphillis,)
| Painful, with exudate: chancroid (H. ducreyi).
55
Infant with failure to thrive
Hepatosplenomegaly
Neurodegeneration
Niemann Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia
Failure to thrive
Hepatomegali
Cori's disease (debranching enzyme deficiency)
57
Infant with microcephaly
Rocker bottom feet
Clenched hands
structural heart defect
Edwards syndrome (trisomy 18)
58
Keratin pearls on a skin biopsy
Squamous cell carcinoma
59
Large rash with bull's eye appearence
Erythema chronica migrans from Ixodes tick bite (lyme disease, Borrelia)
60
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
61
Male child
Recurrent infections
No mature B cells
Bruton's disease (X linked agammaglobulinemia)
62
Mucosal bleeding
| Prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Multiple colon polyps
Osteomas/soft tissue tumours
Impacted supernumerary teeth
Gardner's syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy)
| Exercise intolerance
Pompe's disease (lysosomal alpha 1,4, glucosidase deficiency)
65
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Necrotizing vasculitis (lungs)
Necrotizing glomerulonephritis
```
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Wegener's c-ANCA positive
Goodpastures syndrome (anti basement membrane antibodies)
```
66
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury "waiter's tip."
67
No latation postpartum
Absent menstruation
Cold intolerance
Sheehan's syndrome (pituitary infarction)
68
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
70
Painful blue fingers/toes
| Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful
Pale
Cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
72
Painful
| Raised red lesions on palms and soles
Osler's node (infective endocarditis)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
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Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
```
Henoch-Schonlein purpura (igA vasculitis affecting skin and kidneys)
76
Pancreatic
Pituitary
Parathyroid tumours
MEN 1 (autosomal dominant)
77
Pink complexion
Dyspnea
Hyperventilation
Pink puffer
| Emphysema: centroacinar (smoking), panacinar (alpha 1 antitrypsin deficiency)
78
Polyuria
Acidosis
Growth failure
Electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior drawer sign
Anterior cruciate ligament (ACL) injury
80
Ptosis
Miosis
Anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphillis)
82
Rapidly progressive leg weakness that ascents (following GI/upper respiratory infection)
Guillain Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A
Secondary syphillis
Rocky mountain spotted fever
84
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebshiella pneumoniae
85
Red, itchy, swlollen rash or nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
86
Red urine in the morning
| Fragile RBC's
Paroxysmal nocturbal hemoglobinuria
87
Renal cell carcinoma (nilateral
hemagioblastomas
Angiomatosis
Pheochromocytoma
Von Hippel Lindau disease (dominant tumour suppressor gene mutation)
88
Resting tremor
Rigidity
Akinesia
Postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
89
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
90
Severe jaundice in neonate
Crigler - Najjar syndrome (congenital unconjugated hyperbilirubinemia)
91
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
92
Short stature
Increased incidence of tumours/leukemia
Aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
93
Single palm crease
Simian crease (Down syndrome)
94
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
95
Skin hyperpigmentation
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha MSH production)
96
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X linked missesense mutation in dystrophin, less severe then Duchenne's)
97
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus)
98
Smooth
| Flat, moist white lesions on genitals
Condylomata lata (secondary syphillis)
99
Splinter hemorrhages in fingernails
Bacterial endocarditis
100
Strawberry tongue
Scarlet fever
Kawasaki disease
Toxic shock syndrome
101
Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth
Turner syndrome (45X0, short stature, webbed neck, lymphedema)
102
Sudden swollen painful big toe joint, tophi
Gout/podagra (hyperuricemia)
103
Swollen gums
Mucous bleeding
Poor would healing
Spots on wkin
Scurvy (vitamin C deficiency, can't hydroxylate proline/lysine for collagen synthesis)
104
Swollen
Hard
Painful finger joint
Osteoarthritis (osteophytes on PIP (Bouchard's nodes), DIP - Heberdeen nodes)
105
Systolic enection murmur (crescendo - decrescendo)
Aortic valve stenosis
106
Thyroid
Parathyroid
Pheochromocytoma
MEN 2A (autosomal dominant, ret mutation)
107
Thyroid tumours
Pheochromocytoma
Ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
108
Toe extension/fanning upon plantar scrape
Babinskin sign (UMN lesion)
109
Unilateral facial drooping involving forehead
Bells palsy (LMN CN VII palsy)
110
Urethritis
Conjunctivitis
Arthritis in a male
Reactive arthritis associated with HLA - B27
111
Vascular birthmark (port wine stain)
Hemangioma (benign but associated with Sturge Weber syndrome)
112
Vomitting blood following esophagogastric lacerations
Mallory - Weiss syndrome (alcoholic and bulimic patients)
113
Waxy casts with very low urine flow
Chronic end stage renal disease
114
WBC casts in urine
Acute pyelonephritis
115
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Weight loss
Diarrhea
Arthritis
Fever
Adenopathy
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Whipple's disease
116
Worst headache of my life
Subarachnoid hemorrhage.
