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0001 STEP ONE RAPID REVIEW DX > Rapid review diagnosis disease > Flashcards

Rapid review diagnosis disease Flashcards

1
Q

Abdominal pain ascites, hepatosplenomegaly

A

Budd-chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytes, recent antibiotic use

A

C Diff infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholeterolemia (decreased LDL receptor signaling)

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4
Q

adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

anaphylaxis following blood transfuision

A

IgA deficiency

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6
Q

anterior drawer

A

ACL

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7
Q

Arachnodactyly, lens dislocatio, aortic dissection, hyperflexible joints

A

marfan syndrome (fibrillin defect)

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8
Q

athlete with polycythemia

A

secondary to erythropoeitin injection

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9
Q

back pain, fever, night sweats

A

pott disease (vertebral TB)

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10
Q

Bilateral acoustic schannomas

A

Nuerofibromatosis Type II

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11
Q

bilateral hilar adenopathy, night sweats

A

sarcoidosis (noncaseating granulomas)

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12
Q

black eschar on face of patient with dka

A

mucor or rhiszopus fungal infection

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13
Q

blue sclera

A

osteogenesis imperfecta (type i collagen defect)

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14
Q

bluish line of gingiva

A

burton line (lead poisoning)

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15
Q

bone pain, bone enlargement, arthritis

A

paget disease of bone (increase in osteoblastic and osteoclastic activity)

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16
Q

bounding pulses, diastolic heart murmur, head bobbing

A

aortic regurgitation

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17
Q

butterfly face rash and raynaud phenomenon in young female

A

lupus

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18
Q

cafe au lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF type I, pheochromocytoma, optic gliomas

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19
Q

cafe au lait spots (unilateral(, polyostotic fibrous dysplaisa, precocious puberty, multiple endocrine abnormalities

A

mccune albright syndrome (mosaic g protein signaling mutation)

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20
Q

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

A

Kawasakis disease (treat with IVIG and aspirin)

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21
Q

Cherry red spots on macula

A

Tay sachs disease (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) central retinal artery occulsion

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22
Q

how to distinguish Neimann pick from tay sachs

A

hepatosplenogmegaly in Niemann pick

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23
Q

chest pain, pericardial effusion, peristent fever, following MI

A

Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis) 2-12 weeks after acute episode

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24
Q

chest pain with ST depression on EKG

A

Untable angina if negative troponin

NSTEMI if positive

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25
Q

Child with fever later develops rash on face that spreads to rest of body

A

Slapped cheeks (erythema infectiosum/fifth disease - parvovirus 19)

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26
Q

Chorea, dementia, caudate degeneration

A

Huntingtons disease (AD CAG repeat expansion)

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27
Q

Chorioretinitis, hydrocephalus, intracranial calcification

A

congenital toxoplasmosis

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28
Q

Chronic exercise intolerance with myalgia, fatigue, and painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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29
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

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30
Q

Continuous machine like heart murmur

A

PDA (close with indomethacin ; open or maintain with PGE analogs)

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31
Q

cutaneous / dermal edema due to connective tissue deposition

A

myxedema (caused by hypothyroidism / graves disease / pretibial)

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32
Q

cutaneous flushing, diarrhea, bronchosapsm

A

carcinoid sydrome (right sided cardiac valvular lesions, increase in 5-HIAA)

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33
Q

Dark purple skin and mouth nodules in patient with aids

A

kaposis sarcoma (associated with HHV8)

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34
Q

Deep, labored breathing, hyperventiliation

A

Kussmaul respiration (dka)

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35
Q

dermatitis, dementia, diarrhea

A

Pellagra (niacin b3 deficiency)

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36
Q

dilated cardiomyopathy, edema alcoholism or malnurition

A

wet beri beri (thiamine b1 deficiency)

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37
Q

dog or cate bite resulting in infection

A

pastuerella multocida (cellulitis at inoculation site)

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38
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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39
Q

dysphagia (esophageal webs) glossitis, iron deficiency anemia

A

Plummer Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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40
Q

elastic skin, hypermobility of joints, increased bleeding tendency

A

ehlers danlos syndrome (type v collagen defect, type iii collagen defect seen in vascular subtype of ED)

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41
Q

enlarged hard left supraclavicular node

A

virchow node (abdominal mets)

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42
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease

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43
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

mycosis fungoides (cutaneous T cell lymphma) or Sezary sundrome (mycosis fungoides + malignant T cells in bloods)

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44
Q

facial muscle spasm upon tapping

A

chvostek sign (hypocalcemia)

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45
Q

fever, chills, headache, myalgia, following ab treatment for syphillis

A

Jarisch Herxheimer reaction (rapid lysis of spriochetes results in endotoxin release) its going to be okay

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46
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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47
Q

fever, night sweats, weight loss

A

b signs (staging) of lymphoma

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48
Q

fibrous plaques in soft tissue penis with abnormal curvature

A

peyronie disease (connective tissue disorder)

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49
Q

golden brown rigns around peripheral cornea

A

keyser fleischer rings (copper accumulation from wilsons)

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50
Q

gout, intellectual disability, self-mutilating in boy

A

Lesch Nyhan syndrome (HGPRT deficient; X linked recessive)

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51
Q

hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, and genitals

A

Peutz Jeghers syndrome (inherited, benign, polyposis can cause bowel obstruction; increased risk of cancer mainly GI)

52
Q

hepatosplenomegaly / pancytopenia / osteoporosis / aspcetic necrosis of femur / bone crises

A

Gaucher (glucocerebrosidase deficiency)

53
Q

hererditary nephritis, sensorineural hearing loss, cataracts

A

alport syndrome (mutation in collagen IV)

54
Q

hyperphagia, hypersexualtiy, hyperorality, hyperdocility

A

kluver bucy syndrome (bilateral amygdala lesion)

55
Q

hyperdocility

A

lots of lack of fear

56
Q

hyperreflexia, hypertonia, babinski sign,

A

UMN damage

57
Q

hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

58
Q

hypoxemia, polycythemia, hypercapnia

A

blue bloater (chronic bronchitis, hyperplasia of mucous cells)

59
Q

indurated, ulcerated, genital lesion

A

nonpainful: chancre (primary syphillis - Treponema pallidum) ; painful, with exudate: chancroid (haemophilus ducreyi)

60
Q

infant with cherry red spot on macula / hepatosplenomegaly / and neurodegeneration

A

Niemann Pick disease (genetic sphingomyelin deficiency) - in contrast to Tay Sachs which is a ganglioside accumulation and does not have HSM

61
Q

infant with cleft lip/palate, microcephalic, or holoprosoncephaly, polydactyly, cutis aplasia

A

patau syndrome (trisomy 13)

62
Q

infant with hypoglycemia, hepatosplenomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase defciency, and more severe)

63
Q

infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defects

A

Trisomy 18 (Edwards syndrome)

64
Q

jaundice, palpable, distended, non-tender gall bladder

A

Courvoisier sign (distal obstruction of the biliary tree)

65
Q

large rash with bullseye appearance

A

Lyme disease - Erythema chronicum migrans from Ixodes tick bite (Borrelia)

66
Q

lucid interval after traumatic brain injury

A

epidural hematoma - middle meningeal artery rupture

67
Q

male child, recurrent infections, no mature b cells

A

Bruton disease (X linked agamma)

68
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIa/IIIb)

69
Q

muffle heart sounds, distended neck veins, hypotension

A

Beck triad of cardia temponade

70
Q

multiple colon polyps, osteomas/soft tissue tumors, impacted or supernumary teetch

A

gardner syndrome (subtype of FAP)

71
Q

Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance

A

Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

72
Q

Neonate with arm parlaysis follwoing difficult birth

A

Erb Duchenned palsy (superior trunk c5-c6) brachial plexus injury “waiters tip)

73
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome - pituatary infarction

74
Q

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

75
Q

Painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)

76
Q

Painful fingers/toes changing color from blue to white to red with cold or stress

A

raynaud phenom (vasospasm of extremities)

77
Q

painful raised red lesion on pads of fingers or toes

A

osler nodes (infective endocardidits / immune complex deposition)

78
Q

painless erythematous lesion on palms and soles

A

janeway lesions (infective endocarditis, septic emboli/microabscesses)

79
Q

painless jaundice

A

cancer of the pancreatic head obstructing the bile duct

80
Q

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

A

Henoch-Schonlein purpura (iga vasculitis affecting the skin and kidneys)

81
Q

pancreatic, pituitary, parathyroid tumors

A

men 1 (autosomal dominant)

82
Q

periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

83
Q

pink complexion, dyspnea, hyperventilation

A

pink puffer syndrome (emphysema, centriacinar (smoking) panacinar (alpha1at))

84
Q

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

A

fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

85
Q

pruritic, purple, polygonal planar papules and plaques (6ps)

A

lichen planus - mistaken me

86
Q

ptosis, miosis, anhidrosis

A

horner syndrome (sympathetic chain lesion)

87
Q

pupil accomodates but doesnt react

A

Argyll Robinson pupil (neurosyphillis)

88
Q

rapidly progressive limb weakness that ascends following GI /upper respiratory infection

A

Guillain barre syndrome (acute inflammatory demyelinating polyradiculopathy)

89
Q

rash on palms and soles

A

Coxsackie A, secondary syphillis, rocky mountain spotted fever

90
Q

recurrent cold (noninflamed) abcesses, unusual exzema, high serum IgE

A

Hyper IgE syndrome (Jobs syndrome: neutrophil chemotaxis anomaly)

91
Q

red “current jelly” sputum in alcoholic or diabetic

A

Klebsiella pneumoniae pneumonia

92
Q

red “currant jelly” stools

A

Acute mesenteric ischemia (adults) intussusception (children)

93
Q

Red, itchy, swollen rash of nipple/areola

A

paget disease of the breast (sign of underlying neoplasm)

94
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

95
Q

renal cell carcinoma (bilateral) hemangioblastoma, angiomatosis, pheochromacytosis

A

von Hippel Lindae disease (dominant tumor suppressor gene mutation)

96
Q

resting tremor, rigidity, akinesia, postural instabilty, shuffling gait

A

parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

97
Q

retinal hemorrhages with pale centers

A

roth spots (bacterial endocarditis)

98
Q

severe jaundice in neonate

A

crigler najjar syndrome (congenital unconjugated hyperbilirubinemia)

99
Q

severe RLQ with palpation of LLQ

A

Rovsing sign (acute appendicits)

100
Q

severe RLQ pain with rebound tenderness

A

McBurney sign (acute appe)

101
Q

short stature, cafe au lait spots, thumb and radial defects, increased incidence of tumors leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair) often will progress to AML

102
Q

situs invertus, chronic sinusitis, bronchiectasis, infertility

A

kartaganer syndrome (dynein arm defect affecting cilia)

103
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (Addison disease) causes increase in act and increase in alpha MSH production

104
Q

slow, progressive muscle weakness in boys

A

becker muscular dystrophy (x linked missense mutation in dystrophin, less severe than Duchenne)

105
Q

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

A

koplik spots (measles, rubeola virus)

106
Q

smooth, moist, painless, wart-like white lesions on genitals

A

condylomata lata (secondary syphillis)

107
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

108
Q

strawberry tongue

A

scarlet fever, kawasakis

109
Q

streak ovaries, congenital hear disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphadema

A

tuner syndrome (45xo)

110
Q

sudden swollen painful big toe joint, tophi

A

gout / podagra (hyperuricemia)

111
Q

swollen gums, mucosal bleeding, poor wound healing, patechia

A

vitamin c deficiency - cant hydroxylate proline/lysine for collagen synthesis

112
Q

swollen hard painful finger joints

A

osteoarthritis - osteophytes on PIP (bouchard nodes), DIP (Heberden nodes)

113
Q

Systolic ejection murmur - crescendo-descrescendo

A

Aortic stenosis

114
Q

Telangiectasia, recurrent epistaxis, skin discoloration, ateriovenous malformation, GI bleeding, hematuria

A

Osler-weber-rendu syndrome

115
Q

Thyroid and parathryoid tumors, pheos

A

MEN-IIA (AD RET)

116
Q

Thyroid tumors / pheos / ganglioneuromatosis / marfanoid habitus

A

MEN-IIB (AD RET)

117
Q

toe extension / fannign upon plantar scrape

A

babinski - umn

118
Q

unilateral facial droop involving forehead

A

lmn facial nerve (cn vii) palsy - umn lesion spare the forehead

119
Q

urethritis, conjucntivitis, arthritis in male

A

reactive arthritis associated with HLA-B27

120
Q

Vascular birthmark (port wine stain) on the face

A

nevus flammeus (benign, but associated with Sturge weber syndrome)

121
Q

vomiting blood follow GE lacerations

A

mallory weiss syndrome (alcoholic and bulimic patients)

122
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

whipple disease (Tropheryma whipplei)

123
Q

worst headach

A

SAH

124
Q

Cysathione beta synthase mutation

A

Homocysteinuria - AR

125
Q

Cholesterol
Bile acids
Phosphatidylcholine
up vs down with gallstones

A

up
down
down

0001 STEP ONE RAPID REVIEW DX (25 decks)

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