Classic Presentations Flashcards
(118 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (less 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 with polycythemia
A
Secondary 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 1 collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s diesease of bone (Increase in osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rach and Raynaud’s phenomenon in you 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 accululation), 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 (AI-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gowers’ sign (Duchenne muscular dystrophy)
20
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectionsum/fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominated CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmolplegia (damage to MLF; bilateral {multiple sclerosis}, unilateral {stroke})
25
Continuous "machinery" 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 in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
28
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Anterior “drawer sign”
Anterior cruciate ligament injury
31
Dilated cardiomyopathy, edema, alcoholism or malnutrition
```
Wet beriberi (thiamine [vitamin B
1] deficiency)
```
32
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjögren 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 node (abdominal metastasis)
37
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
```
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary
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-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; Increases 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
Klüver-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, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
54
Infant with cleft lip/palate, microcephaly or
| holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly, and
| neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and
| hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase 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
Erythema chronicum migrans from 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
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 α-1,4-glucosidase deficiency)
66
Neonate with 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 ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or
| increased intracranial pressure)
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune 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 pad of fingers/toes
```
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-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
Periorbital and/or peripheral edema, proteinuria,
| hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α 1-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 papules 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-Barré syndrome (acute autoimmune inflammatory
| demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, 2° 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 with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
96
Short stature, increased 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 (1° adrenocortical insufficiency causes
increaesd ACTH and increased α-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 with
| blue-white centers
Koplik spots (measles; rubeola virus)
102
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2° 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
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant 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 with HLA-B27
115
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with 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
