Test Flashcards
1
Q
abdominal pain; ascites; hepatomegaly
A
Budd-Chiari syndrome (posthepatic venus thrombosis)
2
Q
achilles tendon canthoma
A
familial hypercholesterolemia (low LDL receptor signaling)
3
Q
adrenal hemorrhage; hypotenion; 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
epo 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 granuloma)
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
parget’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 and Raynaud’s phenomenon in a young female
A
SLE
13
Q
café au lat sports; Lisch nodules (iris hamartoma)
A
NF I (plus pheochromocytoma; optic gliomas) NF II (plus 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-linked recessive deletion of dystrophin gene
16
Q
“Cherry-red spot” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomylein 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-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
chorea; dementia; caudate degeneration
A
Huntington’s disease (AD CAG repeat expansion)
21
Q
chronic exercise intolerance with myalagia; fatigue; painful cramps; myoglobinuria
A
McArdle’s dz (muscle glycogen phosphrylase deficiency)
22
Q
cold intolerance
A
hypothyroidism
23
Q
conjugate lateral gase palsy; horizontal diplopia
A
internuclear opthalmoplegia (damage to MLF; bilateral [MS]; unilateral [stroke])
24
Q
continuous “machinery” heart murmur
A
PDA (close with indomethacin; open with misoprostol)
25
deep; labored breathing/ hyperventilation
Kussmaul breathing (diabetic Keto acidosis)
26
Dermatitis; dementia; diarrhea
Pellagra (nice and [vitamin B3] deficiency)
27
Dilated cardiomyopathy; edema; Piner of the
Wet beriberi thiamine deficiency
28
Dog or cat bite resulting in infection
Pasteurella multocida (sideways at inoculation site)
29
Dry eyes; dry mouth; arthritis
Sjogren’s syndrome (autoimmune destruction of exocrine lands)
30
Dysphagia (esophageal webs); glossitis; iron deficiency anemia
Plummer-Vinson syndrome (made progress to esophageal squamous cell carcinoma)
31
Elastic skin; hyper mobility of joints
Ehlers-danlos (type three collagen in defect)
32
Enlarged; hard left supraclavicular node
Virchow’s node (abdominal metastasis)
33
Erythroderma; lymphadenopathy; hepatosplenomegaly; a typical T cells
Sezary sandro (cutaneous T cell lymphoma) or mycosis fungoides
34
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
35
fat; female; forty; and fertile
acute cholelithiasis (bil duct blockage)
36
fever; chills; headache; myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochete results in toxin relase)
37
fever; cough; chroyza; conjunctivitis; diffuse rash
measles (morbillivirus)
38
fever; night sweats; weight loss
B symptoms (lymphoma)
39
fibrous plaques in soft tissue of penis
peyronie's disease (connective tissue d/o)
40
gout; mental retardation; self-mutilating behavior in a boy
lesch-nyahan syndrome (HGPRT def; X-linked; recessive)
41
green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's dz)
42
hamartomatous GI polyups; hyperpigmentation of mouth/feet/hands
peutx-Jeghers syn (genetic benign polyposis can cause bowel obstruction; inc cancer risk)
43
hepatosplenomegale; osteoporosis; neurologic symptoms
Gaucher's dz (glucocerebrosidase deficiency)
44
hereditary nephritis; senorineural hearing loss; cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
45
hypercoagulability (leading to migrating DVTs and casculitis)
Trousseau's sign (adenocarcinoma of panc aor lung)
46
hyperphagia; hypersexuality; hyperorality; hyperdocility
Kluver-Bucy syndrome (b/l amygdala lesion)
47
hyperreflexia hypertonia; positive Babinski sign
UMN damage
48
Hypertension; hpyokalemia; metabolic alkalosis
Conn's syndrome (low cortisol?)
49
hyporeflexia; hypotonia; atrophy
LMN damage
50
hypoxemia; polycythemia; hyporcapnia
"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
51
indurated; ulcerated; genital lesion
nonpainful: chancre (primary syphilis); Painful with exudate: chancroid (Haemophilis ducreyi)
52
infant with failure to thrive; hepatosplenomegaly; neurodegeneration
Niemann-Pick dz (genetic sphingomyelinase def)
53
infant with hypoglycemia; failure to thrive; and hepatomegaly
Cori's dz (debbranching enzyme def)
54
infant with microcephaly; rocker-bottom feet; clenched hands; and stuctural heart defect
Edwards' syndrome (trisomy 18)
55
large rash with bull's eye appearance
erythema chonicum migrans from Ixodes tick bite (Lyme dz: Borrelia)
56
lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
57
male child; recurrent infections; no mature B cells
Bruton's dz (z linked a gammaglobulinemia)
58
mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
59
multiple colon polups. Osteomas/soft ts tumors; impacted/supernumerary teeth
gardner's syndrome (subtype of FAP)
60
myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance
Pompe's dz (lysosomal alpha 1.4 glucosidase deficiency)
61
necrtizing vaculitis of lungs and necrotizing glomerulonephritis
Wegner's (c-ANCA positive) and goodpastures's syndromes (anti-basement membrane antibodies)
62
neonate with arm paralysis following difficult birth
erb-Duchenne palsy (superior trunk (C5-C6) brachial plexus injury ; "waiter's tip"
63
no lactation postpartum; absent menstuation; cold intolerance
Sheehan's syndrome (pituitary ifarction)
64
nystagmus; intention trmor; scanning apeech; b/l internuclear ophthalmoplegia
MS
65
oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure)
66
painful blue fingers/toes; hemolytic anemia
cold agglutinin dz (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae; infectious mononucleosis)
67
painful; pale; cold finger/toes
Raynaud's syndrome (vasospasm in extremities)
68
painful; raised red lesions on palm and soles
Osler's node (infective endocarditis)
69
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
70
painless jaundice
cnacer of the panc head obstruction bile duct
71
palpable purpura on buttocks/lags; joint pain; abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
72
pancreatic; pituitary; parathyroid tumors
MEN I (Autosomal dominant)
73
pink complexion; dyspnea; hyperventiliation
"pink puffer" (emphysema: centroacinal (smoking); panacinar (alpha antitrypsin def))
74
polyuria; acidosis; groth failure electrolyte imlbalnces
Fanconi's syndrome (proximal tubular reabsorption defect)
75
positive anterior "drawer sign"
ACL
76
ptosis; miosis; anhidrosis
Horner's (sympatheitc chain lesion)
77
pupil accommodates but doesn't react
Argyll Robertson pupil (neurospphilis)
78
rapidly progressive leg weakness that ascentds (following GI/URI)
Guillain Barre syndrome (autoimmune acute inflammatory demyelinatin gpolyneuropathy)
79
rash on pals and soles
cozaskie A; secondary syphilis; RMSF
80
recurrent colds; unusual eczema; high serum IgE
hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
81
red "currant jelly" sputum in alcoholic or diabetic pt
Klebsiella pneumoniae
82
red; itchy; swollen rash of nipple/areola
paget's dz of the breast (represents underlying neoplasm)
83
red urin in morning; fragile RBCs
paroxysmal nocturnal hemoglubinuria
84
renal cell carcinoma (b/l); hemangioblastomas; angiomatosis; pheochromocytoma
con Hippel-Linday dz (dominant tumor suppressor gene mutation)
85
resting tremor; rigidity; akinesia; postural instability
Parkinson's dz (nigrostriatal dopamine depletion
86
reinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
87
sever jaundice in neonate
crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia)
88
severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
89
short stature; inc incidence of tumor/lukemia; aplasitc anemia
Fanoci's anemia (genetic loss of DNA crosslink repoair; often progresses to AML)
90
single palm crease
simian crease (T21)
91
situs inversus; chronic sinusitis; bronchiectasis; infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
92
skin hyperpigmentation
addison's dz( primary adrenocortical insufficiencey causesincr ACTH and alpha MSH production)
93
slow; progressive muscle weakness in boys
Backer's muscular dystrophy (X0linked missense mutation in dystophin; less sever than Duchenne's)
94
small; irregular red spots on buccal/lingual mucosa with blue-white centers
koplik spits (measles; rubeola virus)
95
smooth; flat; moist white lesions on genetals
condylomata late (secondary syphilis)
96
splinter hemorrhages in finger nailsx
bacterial endocarditis
97
strawberry tongue
scarlet fever; kawasaki dz; tozic shock syndrome
98
streak ovaries; congenital heart dz; horseshoe kidney; cystic hygroma at birth
turner syndrome (45 XO; short-stature; webbed neck lymphedema)
99
sudden swollen/painful big toe joint; tophi
gout/podagra (hyperuricemia)
100
swollen gums; mucous bleeding ; poor wound healing; spots on skin
scurvy (vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis)
101
swollen; hard; painful finger joints
osteoarthritis (osteophytes on PIP (Bouchard's nodes); DIP (Heberden's nodes)
102
systolic ejection murmur (cresendo-decresendo)
AS
103
thyroid and parathyroid tumors; pheochromocytoma
MEN2A (autosomal dominant ret mutation)
104
thyroid tumors; pheochromocytoma; gangioneuromastosis
MEN2B (sutosomal dominant ret mutation)
105
tow extension/fanning upon plantar scrape
babinski sign (UMN lesion)
106
unilateral facial drooping involving forehead
bell's palsy) LMN CN VII palsy)
107
urethritis; conjunctivitis; arthritis in a mole
reactive arthritis a/w HLA-B27
108
vascular birthmark (port-wine stain)
hemangio (benigh; but a/w sturge -weber syndrome)
109
vomiting blood following esophagogastric lacerations
Mallory-weiss syndrome (alcoholic and bulimic lts)
110
waxy casts with very low urin flow
chronic end-stage renal dz
111
WVC cast in urine
acute pyleonephritis
112
weight loss; diarrhea; arthritis; fever; adenopathy
whipple's dz (Tropheryma whippleii)
113
wort headace of life
subarachnoid
