Classic Presentations Flashcards

(107 cards)

1
Q

Abdominal Pain, Ascites, Hepatomegaly

A

Budd-Chiari Syndrome (Post hepatic venous thrombosis)

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2
Q

Achilles Tendon Xanthoma

A

Familial Hypercholesterolemia (Decreased LDL Receptor Signaling)

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3
Q

Adrenal Hemorrhage, Hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (meningococciemia)

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s Syndrome (fibrillin defect)

Autosomal Dominant

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5
Q

Athlete with polycythemia

A

Secondary to 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 (type I 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 of bone (Increased osteoblastic and osteoclastic activity)

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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 and Raynaud’s phenomenon in a young female

A

Systemic Lupus Erythematosus

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13
Q

Café-au-lait spots, lisch nodules (iris harmartomas)

A

NF-1 (+pheochromocytoma, optic gliomas)

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14
Q

Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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15
Q

Calf-Pseudohypertrophy

A

Muscular Dystrophy (most common Duschenne’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), central retinal artery occlusion

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17
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with 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 later 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, 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
Continuous "Machine-like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves' disease [pretibial])
27
Dark Purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients. Associated with HHV-8)
28
Deep, Labored breathing/hyperventilation
Kussmaul Breathing (DKA)
29
Dermatitis, dementia, death
Pellagra (niacin [Vit B3] deficiency)
30
Dilated Cardiomyopathy, edema, alcoholism or malnutrition
Wet Beriberi (Thiamine [Vit B1] deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dry eye, dry mouth, arthritis
Sjögren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
34
Elastic Skin, hypermobility of joins
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
Sézary syndrome (cutaneous T-cell lymphoma) or Mycosis fungoides
37
Facial Muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, Female, Forty, Fertile
Cholelithiasis (gallstones)
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer Reaction (Rapid lysis of spirchetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's Disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilation behavior in boys
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, hyperpigmentation of mouth, hands and feet
Peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha-chain of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, babinski sign present
UMN lesion
50
Hypotonia, hyporeflexia, atrophy, fasciculations
LMN Lesion
51
Hypoxemia, polycythemia, hypercapnia
"Blue Bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema Pallidum) | Painful, with exudate: chancroid (Haemophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori's Disease (debranching enzyme deficiency)
56
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Juandice, palpable distended non-tender gallbladder
Courvoisier's Sign (distal obstruction of the biliary tree)
58
Large rash with a bullseye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme Disease)
59
Lucid interval following traumatic brain injury
Epidural Hematoma (middle meningeal artery)
60
Male child, recurrent infections, no mature B cells
Bruton's Disease (X-linked agammaglobulinemia
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's Thrombastenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's Syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lyososmal a-1,4-glucosidase deficiency)
65
Neonate with are paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
66
No lactation postpardum, absent menstration, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
68
Oscillating slow/fast breathing
Cheyne-stokes respirations (central apnea in CHF or increased intracranial pressure)
69
Painful blue finger/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious monucleoisis)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
71
Painful, raised red lesions on pads of fingers/toes
Osler's node (infective endocarditis, immune complex deposition)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infectious endocarditis, septic emboli/microabscesses)
73
Painless jaundice
Carcer of the pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
76
Periorbital and/or periperal edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Falconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior drawer sign
ACL injury
80
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
81
ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Pupil accommodates but does not react
Argyll Robertson pupil (neurosyphillis)
83
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
85
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
86
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Red "currant jelly" stool
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represent underlying neoplasm)
89
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
93
Severe jaundice in neonates
Crigler-Nijjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBerney's Sign (appendicitis)
96
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Simian crease (down syndrome)
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and increased a-MSH production)
100
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
101
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles); rubeola virus)
102
Smooth, flat, moist, painless white lesions on genitals
condylomata lata (secondary syphilis)
103
splinter hemorrhages in fingernails
bacterial endocarditis
104
"strawberry tongue"
Scarlet fever, kawasaki disease, toxic shock syndrome
105
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner Syndrome (45, XO)
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
107
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)