Clinical Presentations Flashcards

1
Q

Ab pain, ascites, hepatomegaly

A

Budd-Chiari syndrome

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2
Q

posthepatic venous thrombosis

A

Budd-Chiari syndrome

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3
Q

Achilles tendon xanthoma, decrease LDL receptor signaling

A

Familial hypercholesterolemia

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4
Q
  1. Adrenal hemorrhage, hypotension, DIC

2. Fulminant meningococcemia

A

Waterhouse-Friderichsen syndrome

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfans syndrome

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6
Q

Fibrillin-1 defect

A

marfans syndrome

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7
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

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8
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease

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9
Q

Vertebral TB

A

Pott’s disease

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10
Q
  1. Bilateral hilar adenopathy, uveitis

2. non-caseating granulomas

A

Sarcoidosis

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11
Q

Blue sclera

A

osteogenesis imperfecta

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12
Q

type I collagen defect

A

osteogenesis imperfecta

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13
Q

bluish line on gingiva

A

Burton’s line (lead poisoning)

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14
Q

bone pain, bone enlargement, arthritis

increase osteoblastic and osteoclastic act

A

Paget’s disease of bone

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15
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurg

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16
Q

“butterfly” facial rash, raynaud’s phenomenon in a young female

A

SLE

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17
Q

cafe-au-lait spot, lisch nodules (iris hamartoma)

A

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

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18
Q

cafe-au-lait spot, polyostotic fibrous dysplasia, precocious puberty, multi endocrine abnl

A

McCune-Albright syndrome

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19
Q

mosaic G-protein signaling mutation

A

McCune-Albright

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20
Q

calf pseudohypertrophy

A

Duchenne’s muscular dystrophy

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21
Q

x-linked recessive deletion of dystrophin gene

A

Duchenne’s

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22
Q

“cherry red spot” on macula

A

Tay-Sachs or Niemann-Pick, central retinal artery occlusion

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23
Q

ganglioside accumulation

A

Tay-Sachs

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24
Q

sphingomyelin accumulation

A

Niemann-Pick

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25
Q

chest pain on exertion

A

angina

stable: w/ exertion
unstable: w/o exertion

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26
Q

chest pain, pericardial effusion/friction rub, persistnat fever follwoing MI

A

Dressler’s syndrome

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27
Q

Autoimmune(AI)-meditated post-MI fibrinour pericarditits, 1-12 weeks after actue episodes

A

Dressler’s syndrome

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28
Q

Child w/ fever later devlops rash on face that spreads to body

A

‘slapped cheek’ (parvovirus B19)

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29
Q

child uses arm to stand up from squat

A

Duchenne’s muscular dystrophy (Gowers’ sign)

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30
Q

chorea, demenita, caudate degen

A

Huntington’s

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31
Q

Autosomal dom(AD), CAG repeat expansion

A

Huntington’s

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32
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdles’ disease

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33
Q

muscle glycogen phosphorylase deficiency

A

McArdle’s disease

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34
Q

cold intolerance

A

hypothyroidism

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35
Q

conjugate lateral gaze palsy, horizontal diplopia

A
  1. internuclear ophthalmoplegia
  2. damage to MLF
  3. bilateral (MS)
  4. unilateral (stroke)
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36
Q

continuous “ machinery” heart murmur

A

PDA

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37
Q

close with indomethacin

open/maintaine with misoprostol

A

PDA

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38
Q

cutaneous/dermal edema d/t CT deposition

A

myxedema

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39
Q

myxedema is associated with…

A

hypothyroidism, Grave’s disease (pretibial)

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40
Q

dark purple skin/mouth nodules

A

Kaposi sarcoma (HHV-80

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41
Q

deep, labored breathing/hypervent

A

Kussmaul breathing

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42
Q

kussmaul breathing is usually found with

A

DKA

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43
Q

dermatitis, dementia, diarrhea

A

pellagra

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44
Q

what is pellagra

A

vit B3 (niacin) deficiency

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45
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

wet beriberi

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46
Q

what is wet beriberi

A

vit B1 (thiamine) deficiency

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47
Q

dog or cat bite

A

pasteurella multocida

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48
Q

what is found at site of bite infected by pasteurella multocida

A

cellulitis

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49
Q

dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

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50
Q

what can plummer-vinson turn into

A

squamous cell carcinome

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51
Q

dry eyes, dry mouth, arthritis

A

Sjogrens syndrome

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52
Q

what is sjogrens syndrome

A

AI destruction of exocrine glands

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53
Q

elastic skin, hypermobility of joints

A

Ehler-Danlos syndrome (type III defect)

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54
Q

enlarged, hard left supraventricular nodde

A

Virchows node

ab mets

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55
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atpyical T cells

A

Sezary syndrome, mycosis fungoides

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56
Q

what is sezary syndrome

A

cutaneous T cell lymphoma

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57
Q

facial muscle spasm upon tapping

A

chvostek’s sign

hypocalcemia

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58
Q

fat, female, forty, fertile

A

cholelithiasis

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59
Q

fever, chills, headache, myalgia following antibiootic treatment for syphilis

A

Jarisch-Herxheimer reaction

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60
Q

what is Jarisch-Herxheimer reaction

A

rapid lysis of spirochetes results in toxin release

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61
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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62
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

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63
Q

fibrous plaques in soft tissue of penis

A

peyronie’s diesase

CT disorder

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64
Q

gout, mental retardation, self-mutilating behavoir in boy

A

Lesch-Nyhan syndrome

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65
Q

what is Lesch-Nyhan syndrome

A

HGPRT deficiency, X-linked recessive

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66
Q

green-yellow rings around peripheral cornea

A

Kayser-fleisher rings

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67
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

68
Q

inherited, benign polyposis can cause bowel obstruction

increase risk in cancer-GI

A

Peutz-Jeghers syndrome

69
Q

hepatosplenomegaly, osteoporsis, neurologic symptoms

A

Gaucher’s disease

70
Q

glucocerebrosidase deficicency

A

Gaucher’s disease

71
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

alport syndrome (collagen IV)

72
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome

73
Q

bilateral amygdala lesions

A

Kluver-Bucy syndrome

74
Q

hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

75
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

76
Q

hypoxemia, polcythemia, hypercapnia

A

“blue bloater”

77
Q

what is “blue bloater”

A

chronic bronchitits; hyperplasia of mucous cells

78
Q

indurated, ulcerated genital lesion, nonpainful

A

primary syph - chancre

79
Q

indurated, ulcerated genital lesion, painful, exudate

A

haemophilus ducreyi - chancroid

80
Q

infant with cleft lip/palate, microceph or holoceph, polydactyly, cutis aplasia

A

Patau’s syndrome

trisomy 13

81
Q

infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease

sphingomyelinase deficeincy

82
Q

infant with hypoglycemia, failure to thrive, hepatomegaly

A

Cori’s disease

debranching enzyme deficiency

83
Q

infant with microceph, rocker-bottom feet, clenched hands, and structal heart defect

A

Edward’s syndrome (trisomy 18)

84
Q

jaundice, palpable distended non-tender gallbladder

A

Courvoisier’s sign

85
Q

distal obstruction of biliary tree

A

Courvoisier’s sign

86
Q

large rash, bull’s eye

A

lyme disease - borrelia

(erythema chronicum migrans

87
Q

lucid interval after traumatic brain injury

A

epidural hematoma

88
Q

middle meningeal artery rupture

A

epidural hematoma

89
Q

male child, recurrent infections, no mature B cells

A

Brutons disease

90
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmanns thrombasthenia

91
Q

glanzmanns thrombasthenia

A

defect in platelet aggregation d/t lack of GpIIb/IIIa

92
Q

muffuled heart sounds, distended neck veins, hypotension

A

Beck’s triad of cardiac tamponade

93
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeray teeth

A

Gardner’s syndrome

type of FAP

94
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

pompe’s disease

95
Q

lysosomal alpha 1,4-glucosidase deficiency

A

pompe’s disease

96
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

97
Q

superior trunk C5-C6 brachial plexus injury: waiter’s tip

A

Erb-Duchenne palsy

98
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome

pituitary infarction

99
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

100
Q

oscillating slow/fast breathing

A

Cheyne-Stokes respirations

101
Q

central apnea in CHF or increase ICP

A

Cheyne-Stokes respirations

102
Q

painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease

103
Q

AI hemolytic anemia caused by mycoplasma pneumoniae, infectious mono

A

Cold agglutinin disease

104
Q

painful, pale, cold fingers/toes

A

Raynauds phenomenon

vasospams in extremities

105
Q

painful, raised red lesions on pad of fingers/toes

A

osler’s nodes

immune complex deposition

106
Q

osler’s nodes found in…

A

infective endocarditis

107
Q

painless erythematous lesions on palms and soles

A

Janeway lesions

septic emboli/microabscess

108
Q

janeway lesions found in …

A

infective endocarditis

109
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

110
Q

palpable purpura on buttocks/legs, joint pain, ab pain (child), hematuria

A

henoch-schonlein purpura

111
Q

IgA vasculitis affecting skin and kidenys

A

henoch-schonlein purpura

112
Q

pancreatic, pituitary, parathyroid tumors

A

MEN1

autosomal dom

113
Q

periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

114
Q

pink complexion, dyspnea, hyperventilation

A

“pink puffer”

115
Q

what is “pink puffer”

A

emphysema: centriacinar (smoking), pancinar (alpha1-antitrypsin deficiency)

116
Q

polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi’s syndrome

117
Q

what’s the defect in Fanconi’s syndrome

A

proximal tubular reabsorption defect

118
Q

positive anterior “drawer sign”

A

ACL injury

119
Q

pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

120
Q

ptosis, miosis, anhidrosis

A

Horner’s syndrome

sympathetic chain lesion

121
Q

pupil accommodates but doesnt react

A

Argyll Robertson pupil

neurosyphilis

122
Q

rapidly progressive leg weakness that ascends following GI/URI

A

Guillain-Barre syndrome

123
Q

what is Guillain-Barre syndrome

A

acute AI inflammatory demyelinating polyneuropathy

124
Q

rash on palms and soles

A
  1. coxsackie A
  2. secondary syphilis
  3. Rocky Mountain spotted fever
125
Q

recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome

Job’s syndrome: neutrophil chemotaxis abnormality

126
Q

red “currant jelly” sputum in alcoholic or diabetic pts

A

klebsiella pneumoniae

127
Q

Red “currant jelly” stools

A

acute mesenteric ischemia (adults)

intussusception (infants)

128
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of breast

129
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

130
Q

renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau diesase

131
Q

what mutation occurs in von Hippel-Lindau disease

A

dominant tumor suppressor gene mutation

132
Q

resting tremor, rigidity, akinesia, postural instabiliy

A

Parkinson’s disease

nigrostriatal dopamine depletion

133
Q

retinal hemorrhages with pale centers

A

Roth’s spots

134
Q

roth’s spots are found in…

A

bacterical endocarditits

135
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome

136
Q

what is Crigler-Najjar syndrome

A

congential unconjugated hyperbilirubinemia

137
Q

severe RLQ pain with palpation of LLQ (the special test)

A

rovsing’s sign

acute appendicitis

138
Q

severe RLQ pain with rebound tenderness (the special test)

A

McBurney’s sign

appendicitis

139
Q

short stature, increase incidence of tumors/leukemia, aplastic anemia

A

Fanconi’s anemia

140
Q

what is Fanconi’s anemia

A

genetic loss of DNA crosslink repair; often progresses to AML

141
Q

single palmar crease

A

Down syndrome

simian crease

142
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome

143
Q

skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease

144
Q

what is Addison’s disease

A

primary adrenocortical insuff causes increase in ACTH and alpha-MSH

145
Q

slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy

146
Q

what is Becker’s muscular dystrohy

A

x-linked missense mutation in dystrophin

147
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik Spots

measles; rubeola virus

148
Q

smooth, flat, moist, painless white lesion on genitals

A

condylomata lata

sec syphilis

149
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

150
Q

“strawberry tongue”

A

scarlett fever, kawasaki disease, TSS

151
Q

streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome

45, XO

152
Q

sudden swollen/painful big toe joint, tophi

A

Gout/podagra

hyperuricemia

153
Q

swollen gums, mucosal bleeding, poor wound healing, spots on skin

A

scurvy

154
Q

what is scruvy

A

vit c deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

155
Q

swollen, hard, painful finger joints

A

osteoarthritis
(PIP-Bouchard’s)
(DIP-Heberden’s)

156
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic valve stenosis

157
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A

AD ret mutation

158
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B

AD ret mutation

159
Q

toe extension/fanning upon plantar scrape

A

Babinski sign

UMN lesion

160
Q

unilateral facial drooping involving forehead

A

facial nerve

LMN CN VII palsy

161
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

162
Q

vascular birthmark (port-wine stain)

A

Hemangioma

benign, but assocaited with Sturge-Weber syndrome

163
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-weiss syndrome

alcoholic and bulimic pt

164
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s diesase

Tropheryma whipplei

165
Q

“worst headache of my life”

A

subarachnoid hemorrhage