Classic Presentations Flashcards
(114 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (↓ LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete w/ polycythemia
A
2° to 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 (type I collagen defect)
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 (↑ osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
A
Systemic lupus erythematosus
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling 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) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with 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 with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
20
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant CAG repeat expansion)
21
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
22
Q
Cold intolerance
A
Hypothyroidism
23
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF;bilateral [multiple sclerosis], unilateral [stoke])
24
Q
Continuous “machinery” heart murmur
A
PDA (close with indomethacin; open or maintain with misoprostol)
25
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves' disease [pretibial])
26
Dark purple skin/mouth nodule
Kaposi sarcoma (usually AIDS pt. [MSM]: associated w/ HHV-8)
27
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
28
Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
29
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [B1] deficiency)
30
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
31
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
32
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
33
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
34
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
35
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
36
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
37
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
38
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
40
Fever, night sweats, weight loss
B symtpoms (staging) of lymphoma
41
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
42
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
44
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑cancer risk, mainly GI)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
46
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in α chain of collagen IV)
47
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
48
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
49
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
50
Hypoxemia, polycythemia, hypercapnia
"Blue Bloater" (chronic bronchitis: hyperplasia of mucous cells)
51
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
52
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
53
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
54
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency)
55
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
56
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
57
Large rash w/ bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
58
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
59
Male child, recurrent infection, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
60
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
61
Muffled heart sound, distended neck veins, hypotension
Beck's triad of cardiac tamponade
62
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
63
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
64
Neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
65
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
66
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
67
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or ↑intracranial pressure)
68
Painful blue finger/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
69
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities
70
Painful, raised red lesions on pad of fingers/toes
Osler's node (infective endocarditis, immune complex deposition)
71
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
72
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
73
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
74
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
75
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
76
Pink complexion, dyspnea, hyperventilation
"Pink-puffer" (emphysema: centriacinar [smoking], panacinar [α-antitrypsin deficiency])
77
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemi rickets
Fanconi syndrome (proximal tubular reabsorption defect)
78
Positive anterior drawer sign
ACL injury
79
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
80
Ptosis miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (Job syndrome: neutrophil chemotaxis abnormality)
83
Red "currant jelly" sputum in alcoholic or diabetic pts.
Klebsiella pneumoniae
84
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
85
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
86
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
87
Renal cell carcinoma (bilateral), hemoangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
88
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nicrostriatal dopamine depletion)
89
Retinal hemorrhages w/ pale centers
Roth spots (bacterial endocarditis)
90
Severe jaundice in neonate
Crigler-Najjar syndrome (congential unconjugated hyperbilirubinemia)
91
Severe RLQ pain w/ palpation of LLQ
Rovsing sign (acute appendicitis)
92
Severe RLQ pain w/ rebound tenderness
McBurney's sign (appendicitis)
93
Short stature, ↑ incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
94
Aingle palmar crease
Simian crease (Down syndrome)
95
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
96
Skin hyperpigmentation, hypotension, fatigue
Addison disease (1° adrenocortical insufficiency causes ↑ACTH and ↑α-MSH production)
97
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
98
Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots (measles; rubeola virus)
99
Smooth, flat, moist, painless white lesions on genitals
Condulomata lata (2° syphilis)
100
Splinter hemorrhages in fingernails
Bacterial endocarditis
101
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
102
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
103
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
104
Swollen gums, mucosal bleeding, poor would healing, spots on skin
Scurvy (vit. C deficiency: can't hydroxylate proline/lysine for collagen synth)
105
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
106
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
107
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
108
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
109
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
110
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
111
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated w/ HLA-B27
112
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated w/ Sturge-Weber syndrome)
113
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
114
"Worst headache of my life"
Subarachnoid hemorrhage
