Classic Presentations Flashcards
(117 cards)
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
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
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 (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 (↗osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
Butterfly facial rashand Raynaud’s phenomenon in a young female
A
SLE
13
Q
Café-au-lait spots, Lisch bodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas); Neurofibromatosis type Ii(+ bilateral acoustic neuromas)
14
Q
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-recessive deletion of dystrophin gene
16
Q
Cherry-red spot 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: moderate exertion; unstable: minimal exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s syndrome (autoimmune-mediated post-MU firbinous pericarditis, 1-12weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gowers’ sign (Duchenne muscular dystrophy)
20
Q
Child with fever develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntingtons disease (auto-D CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (uscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
25
Continuous "machinery" heart murmur
PDA (close with indomethacin; open with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothroidism, Graves' disease [periorbital])
27
Dark purple skin/mouth nodules
Kaposi sarcoma (usually AID patients [gay men]: associated with HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing )diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [Vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [Vitamin B1] deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation 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, hypermobilit of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma, lynphadenopathy, hepatosplenomegaly, atypical T cells
Sezard sundrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, female, forty, and fertile
Acute cholelithiasis (bile duct blockage)
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 (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-recessive)
44
Green-yellow rings around perpheral cornea
Kayser-Fleicher rings (Copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowerl obstruction; ↗cancer risk)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in a chain of collagen IV)
48
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
49
Hyperphagia, hyper sexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, positive Babinski sign
UMN damage
51
Hypertension, hypokalimia, metabolic alkalosis
Conn's syndrome
52
Hyporeflexia, hypotonia, atrophy
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
54
Indurated, ulcerated genital lesion
Nonpainful: chancre (1 syphilis, Treponema pallidum); Painful with exudate: chancroid (haemophilus ducreyi)
55
Infant with faliure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori's disease (debranching enzyme deficiency)
57
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heard defect
Edwards' syndrome (trisomy 18)
58
Keratin pearls on a skin biopsy
Squamous cell carcinoma
59
Large rash with bull's-eye apperance
Erythema chronicum migrans from Ixodes tick bity (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's disease (X-linked agammaglobulinemia)
62
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack fo GpIIb/IIIa)
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
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
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's 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 ↗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's syndrome (vasospasm in extremities)
72
Painful, raised red lesions on palms and soles
Osler's node (infective endcarditis)
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/legs, jiont pain, abdominal pain (child)
Henoch0Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centroacinar [smoking], panacinar [a1-antitrypsin deficiency])
78
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsoption defect)
79
Positive anterior "drawer sign"
Anterios cruciate ligament (ACL) injury
80
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain0Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, 2 syphilis, Rocky Mountain spotted fever
84
Recurrent colds, unusual eczama, high serum IgE
Hyper-IgE syndrome (job's syndrome: neutrophil chemotaxis abnormality)
85
Red "currant jelly" sputum in alcoholic aor diabetic patients
Klebsiella pneumoniae
86
Red, itchy, swollen rash of nipple/areola
Paget's disease of the brease (represents underlying neoplasm)
87
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
88
Renal cell carcinoma (bilateral), hemngioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
89
Resting tremor, rigidity, akinesia, postural instablity
Parkinson's disease (nigrostriatal dopamine depletion)
90
Retinal hemorrhages with pale centers
Roth's spots (bacterial endcarditis)
91
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
92
Severe RLQ pain with rebound tenerness
McBurney' sign (appendicitis)
93
Short stature, ↗incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often prgresses to AML)
94
Single palm crease
Simian crease (Down syndrome)
95
Situs inversus, chronic sinusitics, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
96
Skin hyperpigmentation
Addison's disease (1 adrenocortical insufficiency causes ↗ACTH and a-MSh production)
97
Slow, prgressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
98
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus)
99
Smooth, flat, moist white lesions on genitals
Condylomata lata (2 syphilis)
100
Splinter hemorrhages in fingernails
Bacterial endocarditis
101
Strawberry tongue
Scarlet fever, Kawasaki disease, toxic shock syndrome
102
Streak ovaries, congenital heart disease, horseshoe kigney, cystic hygroma at birth
Turner syndrome (45XO, short stature, webbed neck, lymphedema)
103
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
104
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
105
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
106
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
107
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
108
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
109
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
110
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
111
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
112
Vascular birthmart (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
113
Vomiting blood follwing esophagogastric lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
114
Waxy casts with very low urine flow
Chronic end-stage renal disease
115
WBC casts in urine
Acute pyelonephritis
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
117
Worst headache of my life
Subarachnoid hemorrhage
