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USMLE Step 1 > Rapid Review: Classic Presentations > Flashcards

Rapid Review: Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

  • LDLR mutation = decr LDL receptor signaling
    • LDL R binds ApoB on LDL
  • Rx (Heterozygotes)
    • Statins
    • BAS: cholestyramine, colesevelam
  • Rx (Homozygotes)
    • LDL apheresis
    • Liver transplant
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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhous-Friderichsen syndrome (mengiococcemia)

Gram neg diplococci with capsule and pilus

How is it different from N. gonorrhea?

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4
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome

  • Fibrillin defect
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5
Q

Athlete with polycythemia

A

EPO injection

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6
Q

Back pack, fever, night sweats, weight loss

A

Pott’s disease (vertebral TB)

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7
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

  • Noncaseating granulomas
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8
Q

Blue sclera

A

Osteogenesis imperfecta

  • Collagen defect, exposes veins
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9
Q

Bluish line on gingiva

A

Burton’s line (lead poisoning)

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10
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone

  • Incr osteoblast AND osteoclast activity
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11
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

  • Acute: e.g. endocarditis
    • Florid CHF 2/2 LV overload
  • Chronic:
    • LV eccentric adaptation and hypertrophy
    • Inital compensation and then later decompensation
  • Physical exam
    • Waterhammer pulse
    • Rapid upstroke and collapse of carotid artery pulse (Corrigan’s pulse)
    • Low diastolic and incr pulse pressure
    • Head nodding in time with heartbeat

Other diastolic heart murmurs: PR, MS (opening snap with mid-diastolic rumbling), TS

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12
Q

“Butterfly” facial rash, Raynaud’s phenomenon in young female

A

Systemic lupus erythematosus

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13
Q

Cafe-au-lait spots, pigmented hamartomas on iris,

plus:

a) pheochromocytoma, optic glioma
b) bilateral acoustic neuromas

A

a) NF1
b) NF2

Pigmented hamartomas on iris = Lisch nodules

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14
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

A

McCune-Albright syndrome

  • Post-zygotic mutation in GNAS1 (guanine
    • Mosiac G-protein signaling mutation, prevents downregulation of cAMP
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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy

  • Most commonly Duchenne’s
    • X-linked recessive deletion of dystrophin gene
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16
Q

“Cherry-red spot” on macula

A
  1. Niemann-Pick
    1. Sphingomyelinase deficiency
    2. Sphingomyelin accumulation
  2. Tay-Sachs
    1. Hexosaminidase A
    2. Ganglioside (GM2) accumulation
  3. Central retinal artery occlusion
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17
Q

Chest pain on exertion

A

Angina

  • Stable: moderate exertion
  • Unstable: minimal exertion
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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
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19
Q

Child uses arms to stand up from squat

A

Gowers’ sign

  1. Duchenne muscular dystrophy
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20
Q

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

A

“Slapped cheeks”

  • Erythema infectiosum/fifth disease
  • Parvovirus B19
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21
Q

Chorea, dementia, caudate degeneration

A

Huntington’s disease

  • AD CAG repeat expansion
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22
Q

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

A

McArdle’s disease

  • Muscle glycogen phosphorylase deficiency
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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gazepalsy, horizontal diplopia

A

Internuclear ophthalmoplegia

  • Damage to MLF
  • Types
    • Bilateral: multiple sclerosis
    • Unilateral: stroke
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25
Q

Continuous “marchinery” heart murmur

A

PDA

  • Close with indomethacin
  • Open with misoprostol
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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema

  • Etiologies
    • Hypothyroidism
    • Graves’ disease (hyperthyroid): pretibial
      • infiltrative thyroid dermopathy
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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma

  • AIDS patients
  • HHV-8 associated
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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing

  • Diabetic ketoacidosis
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29
Q

Dermatitis, dementia, diarrhea

A

Pellagra

  • Niacin (Vit B3) deficiency
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30
Q

Dilated cardiomyopathy, edema, polyneuropathy

A

Wet beriberi

  • Thiamine (B1) deficiency
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31
Q

Dog or car bite resulting in infection

A
  • Pasteurella multicida*
  • Cellulitis at inoculation site
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32
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s syndrome

  • Autoimmune destruction of exocrine glands
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33
Q

Dysphagia (esopheal webs), glossitis, iren deficiency anemia

A

Plummer-Vinson syndrome

  • May progress to esophageal squamous cell carcinoma
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34
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome

  • Type III collagen defect
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35
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node (adominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A
  1. Sézary sydrome: cutaneous T cell lymphoma (a type of nHL)
  2. Mycosis fungoides
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37
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign

  • Hypocalcemia
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38
Q

Fat, female, forty, and fertile

A

Acute cholelithiasis

  • Bile duct blockage
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39
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphillis

A

Jarisch-Herxheimer reaction

  • Rapid lysis of spirochetes results in toxin release
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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

  • Morbillibivirus, a type of Paramyxovirus
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41
Q

Fever, night sweats, weight loss

A

B symptoms

  • Lymphoma
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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease

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43
Q

Gout, mental retardation, self-mutilation behavior in a boy

A

Lesch-Nyhan syndrome

  • HGPRT deficiency
  • X-linked recessive
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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

  • Cu accumulation from Wilson’s disease
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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

  • Genetic benign polyposis can cause bowel obstruction
  • Incr cancer risk
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46
Q

HSM, osteoporosis, neurologic symptoms

A

Guacher’s disease

  • Glucocerebrosidase deficiency
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47
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome

  • Mutation in alpha chain of collagen IV
48
Q

Hypercoagulabilty (leading to migrating DVTs and vasculitis)

A

Trousseau’s syndrome

  • Migratory thrombophlebitis associated with malignancies–successive crops of tender nodules in affected veins
    • Adenomacarcinoma of pancreas or lung
49
Q

Hyperphagia, hypersexualit, hyperorality, hyperdocility

A

Kluver-Bucy syndrome

  • Bilateral amygdala lesion
50
Q

Hyperreflexia, hypertonia, positive Babinksi sign

A

UMN damage

51
Q

Hypertension, hypokalemia, metabolic alkaloosis

A

Conn’s syndrome

52
Q

Hyporeflexia, hypotonia, atrophy

A

LMN damage

53
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater”

  • Chronic bronchitis: hyperplasia of mucus membranes
54
Q

Indurated, ulcerated genital lesion

  1. Non-painful
  2. Painful, with exudate
A
  1. Chancre
    1. Primary syphillis
    2. Treponema pallidum
  2. Chancroid
    1. Haemophilus ducreyi
55
Q

Infant with failure to thrive, HSM, neurodegeneration

A

Niemann-Pick disease

  • Genetic sphingomyelinase deficiency (AR)
    • Spingomyelin accumulation
  • Foamy macrophages
  • Death by 2-3 yrs
56
Q

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

A

Edwards’ syndrome (Trisomy 18)

57
Q

Keratin pearls on skin biopsy

A

Squamous cell carcinoma

58
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans

  • Iodes tick bite
  • Lyme disease
  • Borrelia
59
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma

  • Middle meningeal artery rupture
60
Q

Male child, recurrent infections, no mature B cells

A

Bruton’s disease

  • X-linked agammaglobulinemia
  • BTK defect
    • Tyrosine kinase gene: blocks pro-B cells from forming pre-B cells
  • B-cell disease
    • Normal pro-B, decr maturation, decr number of B cells, ALL Ig’s decreased
61
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thombasthenia

  • Defect in platelet aggregation due to lack of GpIIb/IIIa
  • Bleeding time is a measure of platelet function! Early bleeding.
62
Q

Multiple colon polyps, osteomas/soft tissue tumors, exercise intolerance

A

Gardner’s syndrome (FAP subtype)

63
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (GSD)

  • Lysosomal alpha-1,4 glucosidase deficiency (acid maltase)
  • Glycogen accumulation
  • Cardiomegaly and systemic findings leading to early death
  • “Pompe’s trashes the Pump” (heart, liver, muscle)
64
Q

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

A
  1. Wegener’s
    1. c-ANCA
  2. Goodpasture’s
    1. Anti-GBM
65
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

  • Superior trunk (C5-C6) brachial plexus injury
  • Waiter’s tip
66
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan’s syndrome (pituitary infarction)

67
Q

Nystagmus, scanning speach, bilateral intranuclear opthalmoplegia

A

Multiple sclerosis

  • Bilateral INO (esp young pt) = MLF lesion
    • Disorder of conjugate gaze
    • MLF connects:
      • PPRF-abducens nucleus
      • Contralateraloculomotor nucleus
    • Ex) RIGHT INO = lesion to RIGHT MLF = inability to adduct RIGHT eye on L gaze
68
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations

  • Central apnea in CHF, OR
  • Increased ICP
69
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin diease

  • Autoimmune hemolytic anemia
    • anti-RBC antibody, usually IGM
    • Binds RBCs, activates complement, MAC destroys cells
  • Primary
    • Idiopathic
  • Secondary
    • Adults: CLL, lymphoma, infection
    • Kids: Mycoplasma pneumonia, infectious mononucleosis
70
Q

Painful, raised red lesions on palms and soles

A

Osler’s node (infective endocarditis)

71
Q

Painless, erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis)

72
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

73
Q

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

A

Henoch-Schönlein purpura

  • IgA vasculitis affecting skin and kidneys
74
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1

  • Autosomal dominant
75
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer”

Emphysema

  1. Centroacinar: smoking
  2. Panacinar: alpha1-antitrypsin deficiency
76
Q

Polyuria, acidosis, growth failure, electrolyte imbalances

A

Fanconi’s syndrome

  • Proximal tubular reabsorption defect
77
Q

Positive anterior “drawer sign”

A

ACL injury

78
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome

  • Sympathetic chain lesion
79
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphillis)

80
Q

Rapidly progressing leg weakness that ascends following GI/URI

A

Guillain-Barré syndrome

  • Autoimmune actue inflammatory demyelinating polyneuropathy
81
Q

Rash on palms and soles

A
  1. Coxsackie A
    1. Picornaviridae (PERCH)
    2. Hand-foot-mouth disease
  2. Secondary syphillis
  3. RMSF
    1. Rickettsia rickettsi
82
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job’s syndrome)

  • Th cells fail to produce IFN-gamma = neutrophils unable to respond to chemotactic stimuli
  • FATED:
    • coarse Facies
    • cold/non-inflammed staph Abcesses
    • retained primary Teeth
    • incr IgE
    • Derm probs (eczema)
83
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

  • GNR
  • Fast lactose fermenter (like E. coli, Enterobacter)
    • Pink colonies on MacConkey’s agar
  • Abundant polysaccaride capsule
    • Mucoid colonies
  • Lobar pneumonia
84
Q

Red, itchy, swollen rash of nipple/areola

A

Paget’s disease of the breast (represents underlying neoplasm)

85
Q

Red urin in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

86
Q

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

A

von Hippel-Lindau disease

  • Dominant tumor suppressor gene mutation
87
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson’s disease

  • Nigrostriatal DA depletion
88
Q

Retinal hemorrhages with pale centers

A

Roth’s spots

  • Bacterial endocarditis
89
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome

  • Congenital unconjugated hyperbilirubinemia
90
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s point

  • Appendicitis
91
Q

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

A

Fanconi’s anemia

  • Genetic loss of DNA crosslink repair; often progresses to AML
92
Q

Single palm crease

A

Simian crease

  • Down’s syndrome
93
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome

  • Dynein arm defect affecting cilia
94
Q

Skin hyperpigmentation

A

Addison’s disease

  • Primary adrenocortical insufficiency causes incr ACTH and alpha-MSH production
95
Q

Slow progressive muscle weakness in boys

A

Becker’s muscular dystrophy

  • X-linked misssense mutation in dystrophin; less severe than Duchenne’s
96
Q

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

A

Koplik spots

  • Measles (Rubeola virus)
    • Paramyxovirus
      • -ssRNA
97
Q

Smooth, flat, moist white lesions on genitals

A

Condylomata lata

  • Secondary syphillis
98
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

99
Q

Strawberry tongue

A
  1. Scarlet fever
    1. GBS
  2. Kawasaki disease
  3. Toxic shock syndrome
100
Q

Streak ovaries, congenital heart disaese, horseshoe kidney, cystic hygroma at birth

A

Turner syndrome

  • 45,XO
  • Short stature, webbed neck, lymphedeoma
101
Q

Sudden swollen/painful big joint, tophi

A

Gout/podagra

  • Hyperuricemia
102
Q

Swollen gums, mucous bleeding, poor wound healing, spots on skin

A

Scurvy

  • Vitamin C deficiency
    • Can’t hydroxylate proine/lysine for collagen synthesis
103
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

  • Osteophytes on PIP (Bouchard’s nodes) and DIP (Heberden’s nodes)
104
Q

SEM, crescendo-decrescendo

A

Aortic valve stenosis

105
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A

  • AD ret mutation (proto-oncogene)
106
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis/mucosal neuromas

A

MEN 2B

  • AD ret mutation (proto-oncogene)
107
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

108
Q

Unilateral facial drooping involving forehead

A

Bell’s palsy

  • LMN CN VII palsy
109
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

110
Q

Vascular birthmark (port-wine stain)

A

Hemangioma

  • Benign, but associated with Sturge-Weber syndrome
    • port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma.
    • Characterized by abnormal blood vessels on the brain surface
111
Q

Vomiting blood following esophagogastric lacerations

A

Mallory-Weiss syndrome

  • Alcoholic and bulimic patients
112
Q

“Waxy” casts with very low urine flow

A

Chronic end-stage renal disease

113
Q

WBC casts in urine

A

Acute pyelonephritis

114
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease

  • Tropheryma whippelii
  • Primarily malabsorption, but may affect any part of the body including the heart, lungs, brain, joints, skin, and the eyes
  • Malabsorption (insufficient absorption of nutrients from the diet) leads to wasting and the enlargement of lymph nodes in the abdomen.
  • Poor absorption of fat means that many develop steatorrhea (fatty, offensive stool). Depletion of albumin, a blood protein, causes peripheral oedema.
  • Neuro: dementia, memory loss, confusion, and decreased level of consciousness
115
Q

“Worst headache of life”

A

Subarachnoid hemorrhage

USMLE Step 1 (13 decks)

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