Clinical Presentations Flashcards
(165 cards)
1
Q
Ab pain, ascites, hepatomegaly
A
Budd-Chiari syndrome
2
Q
posthepatic venous thrombosis
A
Budd-Chiari syndrome
3
Q
Achilles tendon xanthoma, decrease LDL receptor signaling
A
Familial hypercholesterolemia
4
Q
- Adrenal hemorrhage, hypotension, DIC
2. Fulminant meningococcemia
A
Waterhouse-Friderichsen syndrome
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfans syndrome
6
Q
Fibrillin-1 defect
A
marfans syndrome
7
Q
Athlete with polycythemia
A
secondary to erythropoietin injection
8
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease
9
Q
Vertebral TB
A
Pott’s disease
10
Q
- Bilateral hilar adenopathy, uveitis
2. non-caseating granulomas
A
Sarcoidosis
11
Q
Blue sclera
A
osteogenesis imperfecta
12
Q
type I collagen defect
A
osteogenesis imperfecta
13
Q
bluish line on gingiva
A
Burton’s line (lead poisoning)
14
Q
bone pain, bone enlargement, arthritis
increase osteoblastic and osteoclastic act
A
Paget’s disease of bone
15
Q
bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurg
16
Q
“butterfly” facial rash, raynaud’s phenomenon in a young female
A
SLE
17
Q
cafe-au-lait spot, lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
18
Q
cafe-au-lait spot, polyostotic fibrous dysplasia, precocious puberty, multi endocrine abnl
A
McCune-Albright syndrome
19
Q
mosaic G-protein signaling mutation
A
McCune-Albright
20
Q
calf pseudohypertrophy
A
Duchenne’s muscular dystrophy
21
Q
x-linked recessive deletion of dystrophin gene
A
Duchenne’s
22
Q
“cherry red spot” on macula
A
Tay-Sachs or Niemann-Pick, central retinal artery occlusion
23
Q
ganglioside accumulation
A
Tay-Sachs
24
Q
sphingomyelin accumulation
A
Niemann-Pick
25
chest pain on exertion
angina
stable: w/ exertion
unstable: w/o exertion
26
chest pain, pericardial effusion/friction rub, persistnat fever follwoing MI
Dressler's syndrome
27
Autoimmune(AI)-meditated post-MI fibrinour pericarditits, 1-12 weeks after actue episodes
Dressler's syndrome
28
Child w/ fever later devlops rash on face that spreads to body
'slapped cheek' (parvovirus B19)
29
child uses arm to stand up from squat
Duchenne's muscular dystrophy (Gowers' sign)
30
chorea, demenita, caudate degen
Huntington's
31
Autosomal dom(AD), CAG repeat expansion
Huntington's
32
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdles' disease
33
muscle glycogen phosphorylase deficiency
McArdle's disease
34
cold intolerance
hypothyroidism
35
conjugate lateral gaze palsy, horizontal diplopia
1. internuclear ophthalmoplegia
2. damage to MLF
3. bilateral (MS)
4. unilateral (stroke)
36
continuous " machinery" heart murmur
PDA
37
close with indomethacin
| open/maintaine with misoprostol
PDA
38
cutaneous/dermal edema d/t CT deposition
myxedema
39
myxedema is associated with...
hypothyroidism, Grave's disease (pretibial)
40
dark purple skin/mouth nodules
Kaposi sarcoma (HHV-80
41
deep, labored breathing/hypervent
Kussmaul breathing
42
kussmaul breathing is usually found with
DKA
43
dermatitis, dementia, diarrhea
pellagra
44
what is pellagra
vit B3 (niacin) deficiency
45
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi
46
what is wet beriberi
vit B1 (thiamine) deficiency
47
dog or cat bite
pasteurella multocida
48
what is found at site of bite infected by pasteurella multocida
cellulitis
49
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
50
what can plummer-vinson turn into
squamous cell carcinome
51
dry eyes, dry mouth, arthritis
Sjogrens syndrome
52
what is sjogrens syndrome
AI destruction of exocrine glands
53
elastic skin, hypermobility of joints
Ehler-Danlos syndrome (type III defect)
54
enlarged, hard left supraventricular nodde
Virchows node
| ab mets
55
erythroderma, lymphadenopathy, hepatosplenomegaly, atpyical T cells
Sezary syndrome, mycosis fungoides
56
what is sezary syndrome
cutaneous T cell lymphoma
57
facial muscle spasm upon tapping
chvostek's sign
| hypocalcemia
58
fat, female, forty, fertile
cholelithiasis
59
fever, chills, headache, myalgia following antibiootic treatment for syphilis
Jarisch-Herxheimer reaction
60
what is Jarisch-Herxheimer reaction
rapid lysis of spirochetes results in toxin release
61
fever, cough, conjunctivitis, coryza, diffuse rash
measles
62
fever, night sweats, weight loss
B symptoms of lymphoma
63
fibrous plaques in soft tissue of penis
peyronie's diesase
| CT disorder
64
gout, mental retardation, self-mutilating behavoir in boy
Lesch-Nyhan syndrome
65
what is Lesch-Nyhan syndrome
HGPRT deficiency, X-linked recessive
66
green-yellow rings around peripheral cornea
Kayser-fleisher rings
67
hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
68
inherited, benign polyposis can cause bowel obstruction
| increase risk in cancer-GI
Peutz-Jeghers syndrome
69
hepatosplenomegaly, osteoporsis, neurologic symptoms
Gaucher's disease
70
glucocerebrosidase deficicency
Gaucher's disease
71
hereditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (collagen IV)
72
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
73
bilateral amygdala lesions
Kluver-Bucy syndrome
74
hyperreflexia, hypertonia, Babinski sign present
UMN damage
75
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
76
hypoxemia, polcythemia, hypercapnia
"blue bloater"
77
what is "blue bloater"
chronic bronchitits; hyperplasia of mucous cells
78
indurated, ulcerated genital lesion, nonpainful
primary syph - chancre
79
indurated, ulcerated genital lesion, painful, exudate
haemophilus ducreyi - chancroid
80
infant with cleft lip/palate, microceph or holoceph, polydactyly, cutis aplasia
Patau's syndrome
| trisomy 13
81
infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease
| sphingomyelinase deficeincy
82
infant with hypoglycemia, failure to thrive, hepatomegaly
Cori's disease
| debranching enzyme deficiency
83
infant with microceph, rocker-bottom feet, clenched hands, and structal heart defect
Edward's syndrome (trisomy 18)
84
jaundice, palpable distended non-tender gallbladder
Courvoisier's sign
85
distal obstruction of biliary tree
Courvoisier's sign
86
large rash, bull's eye
lyme disease - borrelia
| (erythema chronicum migrans
87
lucid interval after traumatic brain injury
epidural hematoma
88
middle meningeal artery rupture
epidural hematoma
89
male child, recurrent infections, no mature B cells
Brutons disease
90
mucosal bleeding and prolonged bleeding time
Glanzmanns thrombasthenia
91
glanzmanns thrombasthenia
defect in platelet aggregation d/t lack of GpIIb/IIIa
92
muffuled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
93
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeray teeth
Gardner's syndrome
| type of FAP
94
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
pompe's disease
95
lysosomal alpha 1,4-glucosidase deficiency
pompe's disease
96
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
97
superior trunk C5-C6 brachial plexus injury: waiter's tip
Erb-Duchenne palsy
98
no lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome
| pituitary infarction
99
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
100
oscillating slow/fast breathing
Cheyne-Stokes respirations
101
central apnea in CHF or increase ICP
Cheyne-Stokes respirations
102
painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
103
AI hemolytic anemia caused by mycoplasma pneumoniae, infectious mono
Cold agglutinin disease
104
painful, pale, cold fingers/toes
Raynauds phenomenon
| vasospams in extremities
105
painful, raised red lesions on pad of fingers/toes
osler's nodes
| immune complex deposition
106
osler's nodes found in...
infective endocarditis
107
painless erythematous lesions on palms and soles
Janeway lesions
| septic emboli/microabscess
108
janeway lesions found in ...
infective endocarditis
109
painless jaundice
cancer of pancreatic head obstructing bile duct
110
palpable purpura on buttocks/legs, joint pain, ab pain (child), hematuria
henoch-schonlein purpura
111
IgA vasculitis affecting skin and kidenys
henoch-schonlein purpura
112
pancreatic, pituitary, parathyroid tumors
MEN1
| autosomal dom
113
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
114
pink complexion, dyspnea, hyperventilation
"pink puffer"
115
what is "pink puffer"
emphysema: centriacinar (smoking), pancinar (alpha1-antitrypsin deficiency)
116
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome
117
what's the defect in Fanconi's syndrome
proximal tubular reabsorption defect
118
positive anterior "drawer sign"
ACL injury
119
pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
120
ptosis, miosis, anhidrosis
Horner's syndrome
| sympathetic chain lesion
121
pupil accommodates but doesnt react
Argyll Robertson pupil
| neurosyphilis
122
rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barre syndrome
123
what is Guillain-Barre syndrome
acute AI inflammatory demyelinating polyneuropathy
124
rash on palms and soles
1. coxsackie A
2. secondary syphilis
3. Rocky Mountain spotted fever
125
recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome
| Job's syndrome: neutrophil chemotaxis abnormality
126
red "currant jelly" sputum in alcoholic or diabetic pts
klebsiella pneumoniae
127
Red "currant jelly" stools
acute mesenteric ischemia (adults)
| intussusception (infants)
128
Red, itchy, swollen rash of nipple/areola
Paget's disease of breast
129
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
130
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau diesase
131
what mutation occurs in von Hippel-Lindau disease
dominant tumor suppressor gene mutation
132
resting tremor, rigidity, akinesia, postural instabiliy
Parkinson's disease
| nigrostriatal dopamine depletion
133
retinal hemorrhages with pale centers
Roth's spots
134
roth's spots are found in...
bacterical endocarditits
135
severe jaundice in neonate
Crigler-Najjar syndrome
136
what is Crigler-Najjar syndrome
congential unconjugated hyperbilirubinemia
137
severe RLQ pain with palpation of LLQ (the special test)
rovsing's sign
| acute appendicitis
138
severe RLQ pain with rebound tenderness (the special test)
McBurney's sign
| appendicitis
139
short stature, increase incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia
140
what is Fanconi's anemia
genetic loss of DNA crosslink repair; often progresses to AML
141
single palmar crease
Down syndrome
| simian crease
142
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome
143
skin hyperpigmentation, hypotension, fatigue
Addison's disease
144
what is Addison's disease
primary adrenocortical insuff causes increase in ACTH and alpha-MSH
145
slow, progressive muscle weakness in boys
Becker's muscular dystrophy
146
what is Becker's muscular dystrohy
x-linked missense mutation in dystrophin
147
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik Spots
| measles; rubeola virus
148
smooth, flat, moist, painless white lesion on genitals
condylomata lata
| sec syphilis
149
splinter hemorrhages in fingernails
bacterial endocarditis
150
"strawberry tongue"
scarlett fever, kawasaki disease, TSS
151
streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
| 45, XO
152
sudden swollen/painful big toe joint, tophi
Gout/podagra
| hyperuricemia
153
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy
154
what is scruvy
vit c deficiency: can't hydroxylate proline/lysine for collagen synthesis)
155
swollen, hard, painful finger joints
osteoarthritis
(PIP-Bouchard's)
(DIP-Heberden's)
156
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
157
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
| AD ret mutation
158
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
| AD ret mutation
159
toe extension/fanning upon plantar scrape
Babinski sign
| UMN lesion
160
unilateral facial drooping involving forehead
facial nerve
| LMN CN VII palsy
161
urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
162
vascular birthmark (port-wine stain)
Hemangioma
| benign, but assocaited with Sturge-Weber syndrome
163
vomiting blood following gastroesophageal lacerations
Mallory-weiss syndrome
| alcoholic and bulimic pt
164
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's diesase
| Tropheryma whipplei
165
"worst headache of my life"
subarachnoid hemorrhage
