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0. Step Ia > FA - Classic Presentations > Flashcards

FA - Classic Presentations Flashcards

1
Q

abd pain, ascites, hepatomeagly

A

Budd-chiari syndrome (post-hepatic venous thrombosis)

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2
Q

achilles tendon xanthoma

A

familial hypercholesterolemia (decr LDL receptor signaling

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3
Q

adrenal hemorrhage, hypotension, dic

A

waterhouse-friederichsen syndrome (meningococcemia)

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4
Q

anterior drawer sign (+)

A

ACL 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

2˚ to EPO inj.

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7
Q

back pain, fever, night sweats, weight loss

A

pott disease (vertebral TB, usually at the thoracic + upper lumbar vertebrae, resulting from hematogenous spread - usually lungs)

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8
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (non-caseating granuloma)

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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 (incr. osteoblastic + osteoclastic activity causes excessive breakdown and formation of bone, followed by disorganized bone remodelling. )

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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, raynaud’s phenomenon in a young female

A

SLE

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14
Q

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

A

Neurofibromatosis type I (+pheochromocytoma, optic glioma)

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15
Q

cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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16
Q

Calf pseudohypertrophy

A

muscular dystrophy (commonly Duchenne) - X-linked recessive deletion of dystrophin gene

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17
Q

cherry-red spots on macula

A

Tay-Sachs (ganglioside accumulation) or NPC (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, 1-2 weeks after acute episode)

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20
Q

child uses arm to stand up from squat

A

Gower’s sign (Duchenne muscular dystrophy)

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21
Q

child with fever later develops rash on face that spreads to body

A

Parvo-B19 - slapped cheeks (erythema infectiosum/5th disease)

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22
Q

chorea, dementia, caudate degeneration

A

Huntingtons (autosomal CAG repeat expansion)

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23
Q

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

A

McArdle disease (muscle glycogen phosphorylase deficiency

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24
Q

cold intolerance

A

hypothyroidism

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25
Q

conjugate lateral gaze palsy, horizontal diplopia

A

internuclear ophthalmoplegia (damage to MLF)

if bilateral, think multiple sclerosis
if unilateral, think stroke

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26
Q

continuous machine like heart murmur

Rx to close? keep open?

A

PDA

  • close w. indomethacin
  • keep open w. misoprostol or PGE2
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27
Q

cutaneous/dermal edema due to connective tissue deposition

A

myxedema (hypothyroidism, grave’s disease (pretibial)

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28
Q

newborn with abd distension w. or w.o emesis, progressive pallid cyanosis, vasomotor collapse, irregular respiration, and refusal to suck
- mom received this Rx close to delivery date

A

chloramphenicol

“gray baby syndrome”

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29
Q

infant with growth failure, cataracts, liver disease, aminoaciduria, mental retardation

A

galactosemia - def. of galactose-1-phosphate uridyltransferase

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30
Q

dark purple skin/mouth nodules in an immunocompromised patient

A

Kaposi sarcoma (HHV-8)

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31
Q

deep, labored breathing/hyperventilation

A

kussmaul respirations (DKA)

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32
Q

increased JVP on inspiration

A

kussmaul sign - normally decreases but because the negative intrathoracic pressure is not transmitted to the heart -> impaired R filling of the RV, blood backs up into vena cava -> JVD

usual causes: constrictive pericarditis, restrictive cardiomyopathies, RA or RV tumors

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33
Q

Dilated cardiomyopathy, edema, OH, or malnutrition

A

Wet beriberi (thiamine/Vit B1 deficiency)

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34
Q

bites (dog/cat) resulting in infection

A

pasturella multocida (cellulitis at inoculation site)

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35
Q

dry eyes, dry mouth, arthritis

A

Sjogren syndrome (exocrine gland destruction)

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36
Q

dysphagia (esophageal webs), glossitis, IDA

A

plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma)

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37
Q

elastic skin, hypermobility of joints

A

ehler-danlos syndrome (Type III collagen defect)

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38
Q

enlarged, hard L supraclaviular node

A

Virchow node (abd. metz)

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39
Q

erythroderma, lymphadenopathy, hepatosplenomeagly, atypical T cells

A

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

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40
Q

facial muscle spasm upon tapping

A

chvostek sign (hypocalcemia)

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41
Q

fat, female, forty, and fertile

A

cholelithiasis (gall stones)

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42
Q

fever, chills, HA, myalgia following antibiotic treatment for syphillis

A

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

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43
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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44
Q

fever, night sweats, weight loss

A

B symptoms of lymphoma

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45
Q

fibrous plaques in soft tissue of penis

A

peyronie disease (CT d/o)

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46
Q

gout, intellectual disability, self-mutilating behavior in boy

A

Lesh-Nyhan syndrome (HGPRT deficiency, X-link recessive)

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47
Q

green-yellow rings around peripheral cornea

A

Kayser-flescher rings (Cu accumulation - Wilson’s disease)

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48
Q

hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands

A

peutz-Jegher’s syndrome (inherited, benign polyposis) - can cause bowel obstruction, increase cancer risk elsewhere

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49
Q

hepatosplenomeagly, osteoporosis, neurologic symptoms

A

gaucher’s disease (glucocerebrosidase deficiency)

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50
Q

hereditary nephritis, sensorineural hearing loss, cataracts

A

alport syndrome (mutation in collagen IV)

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51
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-bucy syndrome (bilateral amygdala lesion

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52
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

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53
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

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54
Q

Hypoxemia, polycythemia, hypercapnia

A

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

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55
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

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56
Q

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

A

Patau syndrome (trisomy 13)

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57
Q

infant with failure to thrive, hepatosplenomegaly, and neurodegeneration w/ retinal pallor

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

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58
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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59
Q

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

A

Edwards syndrome (trisomy 18)

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60
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

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61
Q

Large rash with bull’s-eye appearance

A

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

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62
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

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63
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

64
Q

Mucosal bleeding and prolonged bleeding time

A

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

65
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

66
Q

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

A

Gardner syndrome (subtype of FAP)

67
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

68
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)

69
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

70
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

71
Q

Oscillating slow/fast breathing

A

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

72
Q

Painful blue fingers/toes, hemolytic anemia

A

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

73
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasm in extremities)

74
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

75
Q

Painless erythematous lesions on palms and soles

A

aneway lesions (infective endocarditis, septic emboli/ microabscesses)

76
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

77
Q

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

A

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

78
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

79
Q

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

A

Nephrotic syndrome

80
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1AT deficiency])

81
Q

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

A

Fanconi syndrome (proximal tubular reabsorption defect)

82
Q

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

A

Lichen planus

83
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

84
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

85
Q

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

A

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

86
Q

Rash on palms and soles

A

Coxsackie A
2° syphilis
Rocky Mountain spotted fever

87
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

88
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae

89
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

90
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

91
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

92
Q

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

A

von Hippel-Lindau disease (dominant TSG mutation)

93
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

94
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

95
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

96
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

97
Q

Severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

98
Q

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

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML

99
Q

Single palmar crease

A

Down syndrome

100
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

101
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison disease (1° adrenocortical insufficiency causes increased ACTH and α-MSH production)

102
Q

Slow, progressive muscle weakness in boys

A

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

103
Q

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

A

Koplik spots (measles; rubeola virus)

104
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (2° syphilis)

105
Q

Splinter hemorrhages in fingernails

A

bacterial endocarditis

106
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

107
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45,XO)

108
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

109
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

110
Q

Swollen, hard, painful finger joints

A

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

111
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic valve stenosis

112
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant ret mutation)

113
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant ret mutation)

114
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

115
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

116
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

117
Q

Vascular birthmark (port-wine stain)

A

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

118
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

119
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

120
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

121
Q

labs: increase proteases, glycosylase, lipases

A

I-cell disease - inability of GOLGI to phosphorylate mannose residues –> proteins are secreted extracellularly rather than delivered to lysosomes

122
Q

coarse facies (gargoyle facies), clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes

A

I-cell disease - inability of GOLGI to phosphorylate mannose residues –> proteins are secreted extracellularly rather than delivered to lysosomes

123
Q

patient with sickle cell anemia should be vaccinated against what

A

pneumococcus

encapsulated due to autosplenectomy; also at risk for salmonella and klebsiella

124
Q

diabetic foot ulcer with gram (-) bacilli, oxidase (+).

other toxin that has the same mxm?

A

pseudomonas aeruginosa, exotoxin A.µ
ADP-ribosylation.
diphtheria toxin.

125
Q

sympathetic cholinergic neurons activation

A

diaphoresis

126
Q

baby with chorioretinitis, hydrocephalus, and intracranial calcifications

A

congenital toxoplasmosis

127
Q

patient with increased blood ammonium and urine orotic acid levels

A

defect in ornithine transcarbamoylase (see page 108 FA2014)

128
Q

patient with polycystic kidney disease with sudden onset of severe headache and evidence of nuchal rigidity, never had it in the past.

A

subarachnoid hemorrhage - berry aneurysms

129
Q

patient with HTN and bradycardia

A

Cushing reflex due to incr. ICP (–> constricts arterioles –> cerebral ischemia and reflex sympathetic increase in perfusion pressure/HTN -> stretch -> reflex baroreceptor induced bradycardia)

130
Q

testicular atrophy, eunuchoid body shape, tall long extremities, gynecomastia, female hair distribution

A

Klinefelter syndrome, XXY

131
Q

short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, preductal coaractation, webbed neck or cystic hygroma, horseshoe kidney

A

Turner syndrome

132
Q

male, very tall, severe acne, normal fertility, antisocial behavior (some are autistic)

A

double male, XYY

133
Q

both ovary + testicular tissue are present, ambiguous genitalia

A

true hermaphroditism, 46XX or 47XXY

134
Q

ovaries, but external genitalia are virilized or ambiguous.

A

female pseudo-hermaphrodite; commonly due to exposure to androgenic steroids during early gestation (CAH, exogenous steroid use)

135
Q

testes, but external genitalia are feminized or ambiguous.

A

male pseudo-hermaphrodite; commonly due to androgen insensitivity

136
Q

ambiguous genitalia
increased serum testosterone and androstenedione
maternal virilization during pregnancy

A

aromatase deficiency, 46XX
Masculinization of female infants
Cannot synthesize estrogens from androgens –> high levels of androgens

137
Q 
femal external genitalia with rudimentary vagina
uterus + fallopian tubes are absent
scant sexual hair
balls found in labia majora 
increased T, E, LH
A

androgen insensitivity 46 XY

138
Q

ambiguous genitalia until puberty, where it starts to become masculinized
normal T, E, normal or high LH
internal genitalia are normal

A

5a reductase deficiency

139
Q

anosmia, infertility

A

kallmann syndrome

140
Q

cyclic pelvic pain, bleeding, dysmenorrhea, dyspareunia, dyschezia (pain w/ defecation), infertility, normal sized uterus

A

endometriosis

141
Q

dysmenorrhea, menorrhagia

enlarged soft globular uterus

A

adenomyosis (endometrial cells invading into muscular part of uterus)

142
Q

signs of menopause after puberty but before age 40

A

premature ovarian failure

143
Q

ascites, hydrothorax, pulling sensation in groin

A

Meigs syndrome - ovarian fibroma - contains spindle shaped fibroblasts

144
Q

F with abnormal uterine bleeding, sexual precocity (in preadolescents), breast tenderness

A

Granulosa cell tumor (estrogen-secreting)

145
Q

tumor that develops during pregnancy or after pregnancy in mother OR BABY. MOther presents with increased levels of ßhCG, shortness of breath, hemoptysis, with hematogenous spread to lungs

A

choriocarcinoma - increased hCG

146
Q

abnormal uterine bleeding in a post-menopausal woman

A

thecoma

147
Q

bloody dipple discharge

A

intraductal papilloma (grows in lactiferous ducts)

148
Q

eezematous patches on nipple

A

Paget disease - malignant breast tumor that results from underlying DCIS

149
Q

large bulky mass of CT and cysts with “leaf-like projections” in stroma of breast

A

phyllodes tumor

150
Q

firm, fibrous rock hard mass with sharp margins and small, glandular duct-like cells

A

invasive ductal breast tumor

151
Q

peau d’orange breasts

A

inflammatory breast cancer; due to dermal lymphatic invasion.

152
Q

painless, homogenous testicular enlargement

A

seminoma - testicular germ cell tumor with fried egg appearance, increased ALP

153
Q

M w/ gynecomastia and hyperthyroidism

comes into the ER with a hemorrhagic stroke

A

choriocarcinoma - can metz to lungs and brain (hemorrhagic stroke due to bleeding into the metz); hyperthyroidism because hCG is a LH/TSH analog

154
Q

child w/ brittle kinky hair, growth retardation, and hypotonia

A

CT d/o due to impaired Cu absorption + transport -> leads to decreased activity of lysyl oxidase (Cu is a necessary cofactor)

155
Q

aorta w/ tree-bark appearance

A

syphilis - due to wrinkling of the intima as a result of ischemia and atrophy of the media layer

156
Q

MRI shows a “ball valve obstruction”, patient has fever + weight loss

A

myxomas - tend to produce IL6, which causes the fever + weight loss

157
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin/Vit B3 deficiency)

0. Step Ia (28 decks)

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