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High yield step 1 > Clinical Presentation/Diagnois or Disease > Flashcards

Clinical Presentation/Diagnois or Disease Flashcards

1
Q

Abdominal Pain, ascites, Hepatomegaly

A

Budd-Chiari syndrome( posthepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia ( decreased LDL receptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Anterior “drawer sign”

A

Anterior cruciate ligament injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

2ndary to erythropoietin injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott disease (vertebral TB)

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8
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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9
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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10
Q

Bluish line on gingiva

A

Burton line(lead poisoning)

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11
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone ( increased osteoblastic and osteoclastic activity)

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12
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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13
Q

“Butterfly” facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

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14
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis type I( +pheochromocytoma, optic gliomas)

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15
Q

Cafe-au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormality

A

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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16
Q

Calf pseudohypertrophy

A

Muscular dystrophy ( most commonly Duchenee): X-linked recessive deletion of dystrophin gene

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17
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation, central retinal artery occlusion

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18
Q

Chest pain on exertion

A

Angina( Stable: with moderate exertion; unstable: with minimal exertion)

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19
Q

Chest pain, pericardial effusion/friction rub/ persistent fever following MI

A

Dressler syndrome ( autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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20
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenee muscular dystrophy)

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21
Q

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

A

“Slapped cheeks” (erthema infectiosum/fifth disease: parvovirus B19)

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22
Q

Chorea, dementia, caudate degeneration

A

Huntington disease ( autosomal dominant CAG repeat expansion)

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23
Q

Chronic exercise intolerance with myalgia, fatique, painful cramps, myoglobinuria

A

McArdle disease ( muscle glycogen phosphorylase deficiency)

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24
Q

Cold intolerance

A

Hypothyoidism

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25
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; bilateral ( multiple sclerois), unilateral (stroke)

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26
Q

Coninous “machine-like” murmur

A

PDA (close with indomethacine; open or maintain with misoprostol)

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease {pretibial})

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28
Q

Infant with hypoglycemia, failure to thrive and hepatomegaly

A

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

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29
Q

Dark purple skin/mouth modules in a patients with AIDS

A

Kaposi sarcoma, associated with HHV-8

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30
Q

Deep, Labored breathing/Hyperventilation

A

Kussmaul respiration (diabetic ketoacidosis)

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31
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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32
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vit B1] deficiency)

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33
Q

Dog or cat bit resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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34
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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35
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

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36
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (trype III collage defect)

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37
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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38
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + maliganant T cells in blood)

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39
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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40
Q

Fat, female, forty and fertile

A

Cholelithiasis (gallstones)

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41
Q

Fever, Chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

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42
Q

Fever, Cough, conjuctivitis, coryza, diffuse rash

A

Measles

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43
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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44
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease ( connective tissue disorder)

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45
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

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46
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson disease)

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47
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk- mainly GI

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48
Q

Hepatosplenomegaly, osteoprosis, neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

49
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

50
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluber-Bucy syndrome (bilateral amygdala lesion)

51
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

52
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

53
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

54
Q

Indurated, ulcerated genital lession

A

nonpainful: chancre ( primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

55
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, cutis aplasia

A

Pataue syndrome (trisomy 13)

56
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

57
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards syndrome (trisomy 18)

58
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

59
Q

Large rash with bull’s-eye appearance

A

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

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma ( middle meningeal artery reupture)

61
Q

Male child, recurrent infections, no mature B-cells

A

Bruton disease ( X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolong bleeding time

A

Glanzmann thromblasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

64
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

65
Q

Myopathy ( infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

66
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenee palsy (superior trunk (C5-6) bracial plexus injury: “waiters tip”)

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infraction)

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations ( central apnea in CHF or increase intracranial pressure)

70
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease ( autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

71
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

72
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler Nodes (infective endocarditis, immune complex deposition

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

75
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

77
Q

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

A

Nephrotic syndrome

78
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacincar [a1-antitrypsin deficiency])

79
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

80
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

82
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

Rapidly progressive leg weakness that ascend following GI/upper respiratory infection

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, 2ndary syphilis, Rocky Mountain spotted fever

85
Q

Reccurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormaility)

86
Q

Red “currant jelly” sputum in alcholic or diabetic patients

A

klebsiella pneumoniae

87
Q

Red “currant jelly” stuools

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underyling neoplasm)

89
Q

Red urine in the morning, fragile RBC’s

A

Paroxysmal nocturnal hemoglobinuria

90
Q

Renal cell carinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hoppel-Lindau disease (dominant tumor suppresoor gene mutation)

91
Q

Resting tremor, rigidity, akinesia, postural instablitity

A

Parkinson disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

96
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia ( gentic loss of DNA crosslink repair: often progresses to AML)

97
Q

Single palmar crease

A

Down syndrome

98
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

99
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison disease ( primary adrenocortical insufficiency causes increased ACTH and increased a-MSH production)

100
Q

Slow, progressive muscle weakness in boys

A

Beck muscular dystrophy( X-linked missense mutation in dystrophin; less severe than Duchenne)

101
Q

Small, irregular red spots on buccal/lingual mucoas with blue-white centers

A

Koplik spots (measles; rebeola virus)

102
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata ( 2ndary syphilis)

103
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

104
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

105
Q

streak ovaries, congenital heart disease, horeseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome ( 45, XO)

106
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

107
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy( vitamin C deficiency: can’t hydroxylate proline/lysine for collage synthesis)

108
Q

Swollen, hard, painful finger joints

A

Osteoarthritis ( osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

109
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

110
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant ret mutation)

111
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

112
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign ( UMN lesion)

113
Q

Unilateral facial drooping involving forehead

A

Facial nerve ( LMN CN VII palsy)

114
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

115
Q

Vascular birthmark (port wine stain)

A

Hemangioma ( benign, but associated with Struge-Weber syndrome

116
Q

Vomiting blood following gastroesphageal lacerations

A

Mallory-Weiss syndrome ( alcoholic and bulimic patients)

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

118
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

High yield step 1 (8 decks)

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