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 (decreased LDL-R 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 EPO injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
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 (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rash, Raynaud’s phenomenon in a young female
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type 1 (+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 (typically Duschenne’s): X linked recessive deletion of dystrophin gene
16
Q
“Cherry red spots” 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 uses arms to stand up from squat
A
Gowers’ sign (Duschenne muscular dystrophy)
20
Q
Child with fever develops red rash on fact that spreads to body
A
“Slapped cheeks” (erythema infectiosum/fifth disease)
Parvovirus B19
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant 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
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (MLF damage; bilateral = MS, unilateral = stroke)
25
Continuous "machinery" heart murmur
PDA (close with indomethacin, keep open with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, pretibial = Graves' disease)
27
Dark purple skin/mouth nodules (also, associated with what virus?)
Kaposi's sarcoma (AIDS defining, associated with HHV8)
28
Deep labored breathing/hyperventilation
Kussmaul breathing (DKA)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin B3 deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine B1 deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at innoculation site)
32
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, HSM, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypOcalcemia)
38
Fat, female, forty, fertile
Cholelithiasis
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self mutilating behaviour in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased cancer risk especially GI)
46
HSM, osteoporosis, neurologic sx
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful with exudate: chancroid (Haemophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant with failure to thrive, HSM, and neurodegeneration
Niemann-Pick (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrice, hepatomegaly
Cori's disease (debranching enzyme deficiency
56
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards' syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
58
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal a-1,4-glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk (C5-6) brachial plexus injury, "waiter's tip")
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarct)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
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 pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
71
Painful, raised red lesions on pad of fingers/toes
Osler's node (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, abd pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar = smoking, panacinar = a1 antitypsin deficiency)
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior "drawer sign"
Anterior cruciate ligament injury
80
Pruritic, purple, polygonal planar papules and plaques (6Ps)
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner's 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 autoimmune 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's 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 (infacts)
88
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents 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's disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation LLQ
Rovsing's sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
96
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Simian crease (Down syndrome)
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)
100
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than duchenne's)
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 (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, spots on skin
Scurvy (vit C def: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP (Bouchard's nodes), DIP (Heberden's 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 sign)
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's disease (Tropheryma whipplei)
118
Worst headache of my life
Subarachnoid hemorrhage
