Classic Presentations, USMLE Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decr LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friederichsen syndrome (meningococcemia)
4
Q
Anterior “drawer sign” positive
A
ACL injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete w/ polycythemia
A
Secondary to erythropoietin injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (incr. osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
Butterfly facial rash and Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
NF type 1 (+pheochromocytoma, optic gliomas)
15
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X linked recessive deletion of dystrophin gene
17
Q
Cherry-red spots on macula
A
Tay-Sachs (GM2 ganglioside accumulation), Niemann-Pick (sphingomyelin accumulation), or central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion)
19
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (AI-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
20
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
21
Q
Child w/ fever later develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/5th disease: parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (AD CAG repeat expansion)
23
Q
Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis] or unilateral [stroke])
26
Continuous "machine-like" heart murmur
PDA (close w/ indomethacin; open or maintain w/ misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
28
Dark purple skin/mouth nodules in a patient w/ AIDS
Kaposi sarcoma, associated w/ HHV-8
29
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B1] deficiency)
31
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
32
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjogren syndrome (AI destruction of exocrine glands)
34
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
35
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
36
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
37
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
38
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
39
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
40
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
41
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
42
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
44
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
45
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jegher syndrome (inherited, benign polyposis can cause bowel obstruction; incr cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
51
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
52
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
54
Infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
57
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
59
Large rash w/ bull's-eye apperance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)
60
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
61
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
62
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
65
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal a-1,4-glucosidase deficiency)
66
Neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
68
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respiration (central apnea in CHF or incr intracranial pressure)
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
72
Painful, raised red lesions on finger/toe pads
Osler nodes (infective endocarditis, immune complex deposition)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency)
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
80
Pruritic, purple, polygonal planar nodules and plaques (6 P's)
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
82
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute AI 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 syndrome: neutrophil chemotaxis abnormality)
86
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of 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 disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages w/ pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain w/ palpation of LLQ
Rovsing sign (acute appendicitis)
95
Severe RLQ pain w/ rebound tenderness
McBurney sign (acute appendicitis)
96
Short stature, incr incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Down syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addison disease (Primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production)
100
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
101
Small, irregular red spots on buccal/lingual mucosa w/ 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, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Medullary carcinoma of thyroid, pheochromocytoma, parathyroid tumors
MEN 2A (AD ret mutation)
111
Medullary carcinoma of thyroid, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
113
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
114
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated w/ HLA-B27
115
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated w/ Sturge-Weber syndrome)
116
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
118
Worst headache of my life
Subarachnoid hemorrhage
