Classical Presentations Flashcards
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
Anterior “drawer sign” (+)
A
Anterior cruciate ligament (ACL) injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
2° to erythropoietin injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral tuberculosis)
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’s line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (↑ osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
Butterfly facial rash and Raynaud’s phenomenon in a 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
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
17
Q
Cherry-red spot 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’s 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 develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
26
Continuous "machinery" 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's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
29
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B₃] 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's 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 node
Virchow's node (abdominal metastasis)
37
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
38
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
39
Fat, female, forty, and fertile
Acute cholelithiasis (bile duct blockage)
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 (Morbillivirus)
42
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
44
Gout, mental retardation, 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's disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/ feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑ cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
49
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
50
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
51
Hyperreflexia, hypertonia, positive Babinski sign present
UMN damage
52
Hypertension, hypokalemia, metabolic alkalosis
Conn's syndrome
53
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
54
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
55
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
56
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
57
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
58
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
59
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards' syndrome (trisomy 18)
60
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
61
Keratin pearls on a skin biopsy
Squamous cell carcinoma
62
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
63
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
64
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammglobulinemia)
65
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/Illa)
66
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
67
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth
Gardner's syndrome (subtype of FAP)
68
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal a-1,4-glucosidase deficiency)
69
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
70
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
71
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
72
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
73
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or ↑ intracranial pressure)
74
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
75
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
76
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis, immune complex deposition)
77
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
78
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
79
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
80
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
81
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
82
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centriacinar [smoking], panacinar [alpha₁-antitrypsin deficiency])
83
Polyuria, acidosis, growth failure, electrolyte imbalances, Hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
84
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
85
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
86
Rapidly progressive leg weakness that ascends (following GI/ upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
87
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
88
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
89
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
90
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
91
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
92
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
93
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
94
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
95
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
96
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
97
Short stature, Inc incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
98
Single palm crease
Simian crease (Down syndrome)
99
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
100
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes Inc ACTH and alpha-MSH production)
101
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
102
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
103
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2° syphilis)
104
Splinter hemorrhages in fingernails
Bacterial endocarditis
105
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
106
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45XO)
107
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
108
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
109
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
110
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
111
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
112
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
113
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
114
Unilateral facial drooping involving forehead
Facial nerve palsy (LMN CN VII palsy)
115
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
116
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
117
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
118
Waxy casts with very low urine flow
Chronic end-stage renal disease
119
WBC casts in urine
Acute pyelonephritis
120
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
121
Worst headache of my life
Subarachnoid hemorrhage
