USMLE FA Classic Presentations Flashcards
Classic Clinical Presentations and the corresponding Diagnosis/Disease
1
Q
Abdominal pain, ascites, and hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (dec LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (meningococcemia)
4
Q
Anterior Drawer Sign (positive)
A
Anterior cruciate ligament injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with 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 (increased osteoclastic and osteoblastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and Raynaud phenomenon in young female
A
Systemic lupus erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis Type I (+ 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 (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), 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 (autoimmune-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 with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythemia infectiosum/fifth disease: parvovarius B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, and myoglobulinuria
A
McArdle Disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold interolerance
A
Hypothyroid
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF [medial longitudinal fasciculus]; bilateral [multiple sclerosis] or unilateral [stroked])
26
Continuous machine-like heart murmur
PDA (close with indomethacin; open or maintain with 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 with AIDS
Kaposi sarcoma, associated with HHV-8
29
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabete ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin [Vitamin B3] deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [Vitamin B1] deficiency)
33
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune 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 nodes
Virchow's 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 during 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
Gout, intellectual disability, self-mutilating behavior in boy
Lesch-Nyhan Syndrome (HGPRT deficiency, X-linked recessive)
44
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
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-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; inc 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 (1˚ syphilis, Trepnenma palldium)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
54
Infant with cleft lip/palate, micocephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic phingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
57
Infant with 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 with bull's-eye appearance
Erythemia chronicum migrans form 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 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 (pressure on the heart that occurs when blood or fluid builds up in the space between the heart muscle [myocardium] and the outer covering sac of the heart [pericardium])
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe Disease (lysosomal alpha-1,4-glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiter's tip)
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma penumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
71
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
76
Pink complexion, dyspnea, hyperventilation
Pink Puffer: emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
77
Polyuria, renal tubular acidosis Type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
78
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
79
Ptosis, miosis, anhidrosis
Horner Syndrome (sympathetic chain lesion)
80
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
81
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillian-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy); camplobacter jejuni
82
Rash on palms and soles
Coxsackie A, 2˚ syphilis, Rocky Mountain Spotted fever
83
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
84
Red current jelly sputum in alcoholic or diabetic patient
Klebsiella penumoniae
85
Red current jelly stools
Acute mesenteric ischemia (adults), intussusception (infants)
86
Red, itchy, swollen rash of nipple/aerolea
Paget disease of the breast (sign of underlying neoplasm)
87
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria (DAF (GPI anchored enzyme) deficiency)
88
Renal cell carcinoma (bilateral), hemagioblastomas, angiomatosis, pheechromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
90
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
91
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
92
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
93
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
94
Short stature, inc incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
95
Single palmar crease
Down Syndrome
96
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dyenien arm defect affecting cilia)
97
Skin hyperpigmentation, hypotension, fatigue
Addison disease (1˚ adrenocortical insufficiency causes inc ACTH and inc alpha-MSH production)
98
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X linked missense mutation in dystrophin; less severe than Duchenne)
99
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
100
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2˚ syphilis)
101
Splinter hemorrhages in fingernails
Bacterial endocarditis
102
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
103
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
104
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
105
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
106
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
107
Systolic ejection murmur (cresendo-decrescendo)
Aortic valve stenosis
108
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
109
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
110
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
111
Unilateral facial dropping involving forehead
Facial nerve (LMN CN VII palsy)
112
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27 (can't pee, can't see, can't climb a tree)
113
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
114
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
115
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei: foamy macrophages in the lamina propria)
116
Worst headache of life
Subarachnoid hemorrhage
117
Female GU Cancers:
| 45; 55; 65
45: cervical
55: endometrial
65: ovarian
