Classic Presentations Flashcards
(118 cards)
1
Q
Abdominal pain, ascites, hepatosplenomegaly?
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aoritic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete w/ polycythemia
A
2ndary to erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
B/l hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granuloma)
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 (malar rash), Raynaud’s phenomenon, young female
A
Systemic lupus erytematosus (SLE)
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartomas)
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 dytrophin gene
16
Q
“Cherry-red spot” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal A. occlusion
17
Q
Chest pain on exertion
A
Angina (stable: w/ moderate exertion; unstable: w/ 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
Gower’s sign (Duchenne muscular dystrophy)
20
Q
Child w/ fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum/5th disease: Parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (AD CAG repeat expansion)
22
Q
Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (M. glycogen phophorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internucear opthalmoplegia (damage to MLF; b/l [multiple sclerosis], unilateral [stroke])
25
Continuous "machinery" heart murmur
PDA (close w/ indomethacin; open or maintain w/ misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave's disease [pretibial])
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS pts [MSM]: associated w/ HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [Vit B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [Vit B1] deficiency)
31
Dog/cat bites 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 L. supraclavicular node
Virchow's node (abdominal mets)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutanous T cell lymphoma) or mycosis fungoides
37
Facial M. spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, female, forty, fertile
Cholelithiasis (gall stones)
39
Fever, chills, HA, myalgia following antibiotic Tx for syphilis
Jarisch-Herxheimer rxn (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B Sx (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation in 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, mainly GI)
46
Hepatosplenomegaly, osteoperosis, neurologic Sx
Gaucher's disease (glucocerobrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collage IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (b/l amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurate, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum); Painful, w/ exudate: chancroid (haemophilus ducreyi)
53
Infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelin deficiency)
55
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
56
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Jaundice, palpable distended non-tenedr gallbladder
Courvoisier's sign(distal obstruction of biliary tree)
58
Large rash w/ 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 A 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 aggregationdue to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck Vs, hypotension
Beck's triad or 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 alpha-1,4-glucosidase deficiency)
65
Neonate w/ 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's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, b/l internuclear opthalmoplegia
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 agglutin 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/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, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin 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 L. injury
80
Pruritic, purple, polygonal planar papules and plaques (6 P's)
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 repiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, 2ndary 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 pts
Klebsiella pneumoniae
87
Red "currant jelly" stools
Acute mesenteric ischemia (adults); intussuception (infants)
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 (b/l), 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 w/ pale centers
Roth's spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain w/ palpation of LLQ
Rovsing's sign (acute appendicitis)
95
Severe RLQ pain w/ 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 adrenocrotical insufficiency causes increased ACTH and increased alpha-MSH production)
100
Slow, progressive M. 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 w/ blue-white centers
Koplik spots (measles; rubeola virus)
102
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2ndary 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
Scurcy (Vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis (steophytes on PIP [Bouchard's nodes], DIP [Herbeden's nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesions)
113
Unilateral facial drooping involving forehead
Facial N (LMN CN VII palsy)
114
Urethritis, conjunctivitis, arthritis in 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 pts)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei)
118
"Worst HA of my life"
Subarachnoid hemorrhage
