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FA step 1-- Rapid Review > Clinical Presentation > Flashcards

Clinical Presentation Flashcards

1
Q

Infant with:

1) hypoglycemia
2) failure to thrive
3) Hepatomegaly

A

Cori’s disease

debranching enzyme deficiency

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2
Q

Infant with:

1) microcephaly
2) rocker-bottom feet
3) clenched hands
4) structural heart defect

A

Edward’s syndrome

trisomy 28

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3
Q

1) Jaundice

2) palpable distended non-tender gallbladder

A

Courvoisier’s sign

distal obstruction of biliary tree

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4
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite

Lyme disease: Borrelia

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5
Q

Lucid interval after tramatic brain injury

A

Epidural hematoma

middle meningeal artery rupture

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6
Q

1) Male child
2) recurrent infections
3) no mature B cells

A

Bruton’s disease

X-linked agammaglobulinemia

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7
Q

1) Mucosal bleeding

2) prolonged bleeding time

A

Glanzmann’s thrombasthenia

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

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8
Q

1) Muffled heart sounds
2) distended neck veins
3) hypotension

A

Beck’s triad of cardiac tamponade

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9
Q

1) Multiple colon polyps
2) Osteoma/soft tissue tumors
3) impacted/supernumerary teeth

A

Gardner’s syndrome

subtype of FAP

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10
Q

1) myopathy (infantile hypertrophic cardiomyopathy)

2) exercise intolerance

A

Pompe’s disease

lysosomal a-1,4-glucosidase deficiency

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11
Q

Neonate with arm paralysis following difficult birth

A

Erb-Deuchenne palsy

superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”

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12
Q

1) No lactation postpartum
2) absent menstruation
3) cold intolerance

A

Sheehan’s syndrome

pituitary infarction

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13
Q

1) Nystagmus
2) intention tremor
3) scanning speech
4) bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

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14
Q

Oscillating slow/fast breathing

A

Cheyne-Strokes respirations

central apnea in CHF or increased intracranial pressure

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15
Q

1) Painful blue fingers/toes

2) hemolytic anemia

A

Cold agglutinin disease

autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, Infectious mononucleosis

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16
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon

Vasospasm in extremities

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17
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler’s node

infective endocarditis, immune complex deposition

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18
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions

infective endocarditis, septic emboli/microabscesses

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19
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

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20
Q

1) Palpable purpura on buttocks/legs
2) joint pain
3) abdominal pain (child)
4) hematuria

A

Henoch-Schönlein purpura

IgA vasculitis affecting skin and kidneys

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21
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1

autosomal dominant

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22
Q

1) Periorbital and/or peripheral edema
2) proteinuria
3) hypoalbuminemia
4) hypercholesterolemia

A

Nephrotic syndrome

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23
Q

1) Pink complexion
2) dyspnea
3) hyperventilation

A

“pink puffer”

Emphysema: centriacinar [smoking], panacinar [Alpha-1 antitrypsin deficiency]

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24
Q

Infant with:

1) failure to thrive
2) hepatosplenomegaly
3) neurodegeneration

A

Niemann-Pick disease

genetic sphingomyelinase deficiency

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25
Q

1) abdominal pain
2) ascites
3) hepatomegaly

A

Budd-Chiari syndrome

posthepatic venous thrombosis

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26
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

decreased LDL receptor signaling

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27
Q

1) Adrenal hemorrhage
2) hypotension
3) DIC

A

Waterhouse-Friderichsen syndrome

meningococcemia

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28
Q

1) Arachnodactyly
2) lens dislocation
3) aortic dissection
4) hyperflexible joints

A

Marfan’s syndrome

fibrillin defect

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29
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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30
Q

1) Back pain
2) fever
3) night sweats
4) weight loss

A

Pott’s disease

vertebral tuberculosis

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31
Q

1) Bilateral hilar adenopathy

2) uveitis

A

Sarcoidosis

noncaseating granulomas

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32
Q

Blue sclera

A

Osteogenesis imperfecta

type 1 collagen defect

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33
Q

Bluish line on gingiva

A

Burton’s line

lead poisoning

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34
Q

1) Bone pain
2) bone enlargement
3) arthritis

A

Paget’s disease of bone

increased osteoblastic and osteoclastic activity

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35
Q

1) Bounding pulses
2) diastolic heart murmur
3) head bobbing

A

Aortic regurgitation

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36
Q

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

A

Systemic lupus erythematosus

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37
Q

1) Café-au-lait spots

2) Lisch nodules (iris hamartoma)

A

McCune-Albright syndrome

mosaic G–protein signaling mutation

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38
Q

Calf pseudohypertrophy

A

Muscular dystrophy

(most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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39
Q

“Cherry–red spot” on macula

A

~Tay-Sachs (ganglioside accumulation)

~Niemann-Pick (sphingomyelin accumulation)

~central retinal artery occlusion

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40
Q

Chest pain on exertion

A

Angina

stable: with moderate exertion
(unstable: with minimal exertion)

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41
Q

1) Chest pain
2) pericardial effusion/friction rub
3) persistent fever following MI

A

Dressler’s syndrome

autoimmune–mediated post–MI fibrinous pericarditis, 1-12 weeks after acute episode

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42
Q

Child uses arms to stand up from squat

A

Gower’s sign

Duchenne muscular dystrophy

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43
Q

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

A

“Slapped cheeks”

erythema infectiosum/5th disease: parvovirus B19

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44
Q

1) Chorea
2) dementia
3) caudate degeneration

A

Huntington’s disease

(autosomal dominant CAG repeat expansion)

(Chromosome 4)

(Decreased GABA and ACh)

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45
Q

1) Chronic exercise intolerance with myalgia
2) fatigue
3) painful cramps
4) myoglobinuria

A

McArdle’s disease

muscle glycogen phosphorylase deficiency

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46
Q

Cold intolerance

A

Hypothyroidism

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47
Q

1) Conjugate lateral gaze palsy

2) horizontal diplopia

A

Internuclear ophthalmoplegia

damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]

48
Q

Continuous “machinery” heart murmur

A

PDA

close with indomethacin; open or maintain with misoprostol [PGs]

49
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema

caused by hypothyroidism, Graves’ disease [peritibial]

50
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma

usually AIDS patients [MSM]: associated with HHV-8

51
Q

Deep, labored breathing/hyperventilation

A

Kussmaul breathing

diabetic ketoacidosis

52
Q

1) Dermatitis
2) dementia
3) diarrhea

A

Pellagra

(niacin [vitamin B3] deficiency

53
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi

thiamine [vitamin B1] deficiency

54
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida

Cellulitis at inoculations site

55
Q

1) Dry eyes
2) dry mouth
3) arthritis

A

Sjögren’s syndrome

autoimmune destruction of exocrine glands

56
Q

1) Dysphasia (esophageal web’s)
2) glossitis
3) iron deficiency anemia

A

Plummer-Vinson syndrome

may progress to esophageal squamous cell carcinoma

57
Q

1) Elastic skin

2) hypermobility of joints

A

Ehlers-Danlos syndrome

type III collagen defect

58
Q

Enlarged, hard left supraclavicular node

A

Virchow’s node

abdominal metastasis

59
Q

1) Erythrodermal
2) lymphadenopathy
3) Hepatosplenomegaly
4) atypical T cells

A

Sézary syndrome (cutaneous T-cell lymphoma) or

mycosis fungoides

60
Q

Facial muscle spasm upon tapping

A

Chvostek’s sign

hypocalcemia

61
Q

1) Fat
2) female
3) forty
4) fertile

A

Cholelithiasis

gallstones

62
Q

1) Fever
2) cough
3) conjunctivitis
4) coryza
5) diffuse rash

A

Measles

Morbillivirus

63
Q

1) Fever
2) night sweats
3) weight loss

A

B symptoms (staging) of lymphoma

64
Q

Fibrous plaques is soft tissue of penis

A

Peyronie’s disease

connective tissue disorder

65
Q

1) Gout
2) mental retardation
3) self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome

HGPRT deficiency, X-linked recessive

66
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings

copper accumulation from Wilson’s disease

67
Q

1) Hamartomatous G.I. polyps

2) hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly G.I.

68
Q

1) Hepatosplenomegaly
2) osteoporosis
3) neurologic symptoms

A

Gaucher’s disease

glucocerebrosidase deficiency

69
Q

1) Hereditary nephritis
2) sensorineural hearing loss
3) cataracts

A

Alport syndrome

mutation in alpha chain of collagen IV

70
Q

1) Hyperphagia
2) hypersexuality
3) hyperorality
4) hyperdocility

A

Klüver-Bucy syndrome

bilateral amygdala lesion

71
Q

1) Hyperreflexia
2) hypertonia
3) Babinski sign present

A

UMN lesion/damage

72
Q

1) Hyporeflexia
2) hypotonia
3) atrophy
4) fasciculations

A

LMN lesion/damage

73
Q

1) Hypoxemia
2) polycythemia
3) hypercapnia

A

“Blue bloater”

chronic bronchitis: hyperplasia of mucous cells

74
Q

Indurated, ulcerated general lesion

A

Nonpainful: chancre (primary syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

75
Q

Infant with:

1) cleft lip/pallet
2) microcephaly or holoprosencephaly
3) polydactyly
4) cutis aplasia

A

Patau’s syndrome (trisomy 13)

76
Q

1) Polyurea
2) renal tubular acidosis type 2
3) growth failure
4) electrolyte imbalances
5) hypophosphatemic rickets

A

Fanconi’s syndrome

proximal tubular reabsorption defect

77
Q

Positive anterior “drawer sign”

A

Anterior cruciate ligament injury

ACL injury

78
Q

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

A

Lichen planus

79
Q

1) Ptosis
2) meiosis
3) anhidrosis

A

Horner’s syndrome

sympathetic chain lesion

80
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil

neurosyphilis

81
Q

Rapidly progressive leg weakness that ascends following G.I./upper respiratory infection

A

Guillain-Barré syndrome

acute autoimmune inflammatory demyelinating polyneuropathy

82
Q

Rash on palms and soles

A

~Coxsackie A

~Secondary syphilis

~Rocky Mountain spotted fever

83
Q

Red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

84
Q

Red “currant jelly” stool

A

~Acute mesenteric ischemia (adults)

~intussusception (infants)

85
Q

1) Red urine in the morning

2) fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

86
Q

1) Renal cell carcinoma (bilateral)
2) Hemangioblastomas
3) angiomatosis
4) pheochromocytoma

A

von Hippel-Lindau disease

dominant tumor suppressor gene mutation

87
Q

1) Resting tremor
2) rigidity
3) akinesia
4) postural instability

A

Parkinson’s disease

nigrostriatal dopamine depletion

88
Q

Retinal hemorrhages with pale centers

A

Roth’s spots

bilateral endocarditis

89
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome

congenital unconjugated hyperbilirubinemia

90
Q

Severe RLQ pain with palpation of the LLQ

A

Rovsing’s sign

acute appendicitis

91
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign

appendicitis

92
Q

1) Short stature
2) increased incidence of tumors/leukemia
3) aplastic anemia

A

Fanconi’s anemia

genetic loss of DNA cross-link repair; often progresses to AML

93
Q

Single palmar crease

A

Simian crease

Down syndrome

94
Q

1) Situs inversus
2) chronic sinusitis
3) bronchiectasis
4) infertility

A

Kartanger’s syndrome

dynein arm defect affecting cilia

95
Q

1) Skin hyperpigmentation
2) hypotension
3) fatigue

A

Addison’s disease

primary adrenocortical insufficiency causes increased ACTH and increased Alpha-MSH production

96
Q

Slow, progressive muscle weakness in boys

A

Becker’s muscular dystrophy

X-linked missense mutation in dystrophin; less severe than Duchenne’s

97
Q

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

A

Koplik spots (measles; rubeola virus)

98
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

99
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

100
Q

“Strawberry tongue”

A

~Scarlet fever

~Kawasaki disease

~toxic shock syndrome

101
Q

1) Streak ovaries
2) congenital heart disease
3) horseshoe kidney
4) cystic hygroma at birth
5) short stature
6) webbed neck
7) lymphedema

A

Turner syndrome

45, XO

102
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra

hyperuricemia

103
Q

1) Swollen gums
2) mucosal bleeding
3) poor wound healing
4) spots on skin

A

Scurvy

vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis

104
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes]

105
Q

Systolic ejection murmur

crescendo-decrescendo

A

Aortic valve stenosis

106
Q

1) Thyroid tumors
2) parathyroid tumors
3) pheochromocytoma

A

MEN 2A

autosomal dominant ret mutation

107
Q

1) Thyroid tumors
2) pheochromocytoma
3) ganglioneuromatosis

A

MEN 2B

autosomal dominant ret mutation

108
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign

UMN lesion

109
Q

Unilateral facial drooping involving forehead

A

Facial nerve

LMN CN VII palsy

110
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA–B27

111
Q

Vascular birthmark (port-wine stain)

A

Hemangioma

benign, but associated with Sturge-Weber syndrome

112
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome

alcoholic and bulimic patients

113
Q

1) Weight-loss
2) diarrhea
3) arthritis
4) fever
5) adenopathy

A

Whipple’s disease

Tropheryma whipplei

114
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

115
Q

Urinary incontinence (“what”)

Dementia/cognitive dysfunction (“wacky”)

Ataxia (“wobbly”)

A

Normal pressure hydrocephalus

FA step 1-- Rapid Review (4 decks)

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