FA Rapid Review: Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (post hepatic venous thrombosis

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2
Q

achilles tendon xanthoma

A

Familial hypercholesterolemia (decrease LDL receptor signaling)

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3
Q

adrenal hemmorrhage, hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (meningococcemia)

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4
Q

arachnodactyly, lens dislocaiton, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrilling defect)

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5
Q

athlete with polycythemia

A

Secondary to erythropoietin injection

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6
Q

back pain, fever, night sweats, weight loss

A

Pott’s Disease (vertebral tuberculosis)

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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 (type I collagen defect)

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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 enlargemnt, arthritis

A

Paget’s disease of bone (increase osteoblastic and osteoclastic activity)

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11
Q

bouding pulses, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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12
Q

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

A

Systemic Lupus erythematosus

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13
Q

Café au lait spots, Lisch Nodules (iris hamartoma)

A

Neurofibromatosis type I (+ pheocromocytoma, optic gliomas)

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14
Q

Café au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrin abnormalities

A

McCune-Albright syndrome (mosiac G-protein signalling mutation)

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15
Q

calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene</p>

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16
Q

“cherry-red spot” on macula

A

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

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17
Q

chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with 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 arm to stand up from squat

A

Gowers’ sign (Duchenne muscular dystrophy)

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20
Q

child with fever later 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 (autosomal-dominant 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 gaze palsy, horizontal diplopia

A

Internuclear opathmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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25
Q

Constant “machinery” heart murmur

A

PDA (close with indomethacin; open or maintain with misoprostol

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26
Q

cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hyperthyroidism, Graves’ disease[pretibial])

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27
Q

Dark purple skin/mouth nodules

A

Kaposi’s sarcoma (usually AIDS pts [MSM]: associated with HHV-8)

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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 [vitamin B3] deficiency)

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30
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1 deficiency])

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (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 (esophageal webs), glossitis, iron 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 nodes (abdominal metastasis)

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36
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells

A

Sezary syndrome (cutaneous T-cell Lymphoma) or 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

Cholelthiasis (gallstones)

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39
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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40
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles (Morbillivirus)

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41
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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42
Q

<p>Fibrous plaques in soft tissue of penis
</p>

A

Peyronie’s disease (connective tissue disorder)

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43
Q

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

A

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

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44
Q

Green-yellow rinks around peripheral cornea

A

Kayser-Fleisher rings (copper accumulation from Wilson’s disease)

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45
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)</p>

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46
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’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)

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48
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilater amygdala lesion)

49
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

50
Q

Hyporeflexia, hypotonia, atrophy fasciculations

A

LMN damage

51
Q

Hypoxemia, polycythemia, hypercapnia

A

“blue bloater” (chronic bronchitis; hyperplasia of mucous cells)

52
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (Primary Syphilis, Treponema pallidum) Painful, with exudate: chancroid (haemophilus ducreyi)

53
Q

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

A

Patau’s syndrome (trisomy 13)

54
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55
Q

Infant with hypoglycemia, failure to thrive, and hepatosplenomegaly

A

Cori’s Disease (debranching enzyme deficiency

56
Q

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

A

Edwards’ syndrome (trisomy 18)

57
Q

Jaundice, papable distended non-tender gallbladder

A

Courvoisier’s sign (distal obstruction of biliary tree)

58
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes 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 agammaglobinemia)

61
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann’s thrombasthenia (defect in platelet aggreation due to lack of GpIIb/IIIa)

62
Q

Muffled heart sounds, distended neck vein, hypotension

A

Beck’s triad of cardiac tamponade

63
Q

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

A

Gardner’s syndrom (subtype of FAP)

64
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe’s disease (lysosmal alpha 1, 4 glucosidase deficiency)

65
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchene 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, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

68
Q

Oscillating slow/fast breathing

A

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

69
Q

Painful blue fingers/toes, hemolytic anemia

A

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

70
Q

Painful, pale, cold fingers/toes

A

Raynaud’s phenomenon (vasospansm in extremities)

71
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler’s node (infective endocarditis, immune complex deposition)

72
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

74
Q

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

A

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

75
Q

Pancreatic, pituitary, parathyroid tumores

A

MEN 1 (autosomal dominant)

76
Q

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

A

Nephrotic Syndrome

77
Q

Pink complexion, dyspena, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha 1- antitrypsin deficiency])

78
Q

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

A

Fanconi’s syndrome (proximal tubular reabsorption defect)

79
Q

Positive anterior “drawer sing”

A

Anterior cruciate ligament injury

80
Q

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

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner’s syndrome (sympathetic chain lesion)

82
Q

Pupil accommadates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)</p>

83
Q

Rapidly progressive leg weakness that ascends following GI/Upper respiratory infection

A

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

85
Q

Reccurent colds, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job’s Syndrome: neutrophil chemotaxis abnormality)

86
Q

Red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

87
Q

Red “current jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

A

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

89
Q

Red urine in morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

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

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

91
Q

Resting tremor, rigidity, akinesa, postural instability

A

Parkinson’s disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale centers

A

Roth’s 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’s sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (appendicitis)

96
Q

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

A

Fanconi’s syndrome (genetic loss of DNA crosslink repair; often progresses to AML)</p>

97
Q

Single palmar crease

A

Simian crease (Down syndrome)</p>

98
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener’s syndrome (dynein arm defect affecting cilia)

99
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison’s disease (primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production)

100
Q

Slow progressive muscle weakness in boys

A

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

101
Q

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

A

Koplik spots (measles; rubeola virus)

102
Q

smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)</p>

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, horseshoe 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, spots on skin

A

Scurvy (vitamin C defciency: can’t hydroxylate proline/lysine for collagen synthesis)

108
Q

Swollen, hard, painful finger joints

A

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

109
Q

Systolic ejection murmur (cresendo-decrescendo)

A

Aortic valve stenosis

110
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (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, conjunctivits, arthritis in a male

A

Reactive arthritis associated with HLA B27

115
Q

Vascular birthmark (port-wine stain)

A

Hemagioma (benign, but associated with Sturge-Weber syndrome)

116
Q

Vomiting blood folling gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholic and bulimic patients)

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (Tropheryma whipplei)

118
Q

“worst headache of my life”

A

Subarachnoid hemorrhage