FA - Classic Presentations Flashcards Preview

► Med Misc 03 > FA - Classic Presentations > Flashcards

Flashcards in FA - Classic Presentations Deck (157):
1

abd pain, ascites, hepatomeagly

Budd-chiari syndrome (post-hepatic venous thrombosis)

2

achilles tendon xanthoma

familial hypercholesterolemia (decr LDL receptor signaling

3

adrenal hemorrhage, hypotension, dic

waterhouse-friederichsen syndrome (meningococcemia)

4

anterior drawer sign (+)

ACL injury

5

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

marfan syndrome (fibrillin defect)

6

athlete with polycythemia

2˚ to EPO inj.

7

back pain, fever, night sweats, weight loss

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

8

bilateral hilar adenopathy, uveitis

sarcoidosis (non-caseating granuloma)

9

blue sclera

osteogenesis imperfecta (type I collagen defect)

10

bluish line on gingiva

burton line (lead poisoning)

11

bone pain, bone enlargement, arthritis

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

12

bounding pulses, diastolic heart murmur, head bobbing

aortic regurgitation

13

butterfly facial rash, raynaud's phenomenon in a young female

SLE

14

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

Neurofibromatosis type I (+pheochromocytoma, optic glioma)

15

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

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

16

Calf pseudohypertrophy

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

17

cherry-red spots on macula

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

18

chest pain on exertion

angina

stable with moderate exertion
unstable with minimal exertion

19

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

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-2 weeks after acute episode)

20

child uses arm to stand up from squat

Gower's sign (Duchenne muscular dystrophy)

21

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

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

22

chorea, dementia, caudate degeneration

Huntingtons (autosomal CAG repeat expansion)

23

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

McArdle disease (muscle glycogen phosphorylase deficiency

24

cold intolerance

hypothyroidism

25

conjugate lateral gaze palsy, horizontal diplopia

internuclear ophthalmoplegia (damage to MLF)

if bilateral, think multiple sclerosis
if unilateral, think stroke

26

continuous machine like heart murmur

Rx to close? keep open?

PDA
- close w. indomethacin
- keep open w. misoprostol or PGE2

27

cutaneous/dermal edema due to connective tissue deposition

myxedema (hypothyroidism, grave's disease (pretibial)

28

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

chloramphenicol

"gray baby syndrome"

29

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

galactosemia - def. of galactose-1-phosphate uridyltransferase

30

dark purple skin/mouth nodules in an immunocompromised patient

Kaposi sarcoma (HHV-8)

31

deep, labored breathing/hyperventilation

kussmaul respirations (DKA)

32

increased JVP on inspiration

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

33

Dilated cardiomyopathy, edema, OH, or malnutrition

Wet beriberi (thiamine/Vit B1 deficiency)

34

bites (dog/cat) resulting in infection

pasturella multocida (cellulitis at inoculation site)

35

dry eyes, dry mouth, arthritis

Sjogren syndrome (exocrine gland destruction)

36

dysphagia (esophageal webs), glossitis, IDA

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

37

elastic skin, hypermobility of joints

ehler-danlos syndrome (Type III collagen defect)

38

enlarged, hard L supraclaviular node

Virchow node (abd. metz)

39

erythroderma, lymphadenopathy, hepatosplenomeagly, atypical T cells

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

40

facial muscle spasm upon tapping

chvostek sign (hypocalcemia)

41

fat, female, forty, and fertile

cholelithiasis (gall stones)

42

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

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

43

fever, cough, conjunctivitis, coryza, diffuse rash

measles

44

fever, night sweats, weight loss

B symptoms of lymphoma

45

fibrous plaques in soft tissue of penis

peyronie disease (CT d/o)

46

gout, intellectual disability, self-mutilating behavior in boy

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

47

green-yellow rings around peripheral cornea

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

48

hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands

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

49

hepatosplenomeagly, osteoporosis, neurologic symptoms

gaucher's disease (glucocerebrosidase deficiency)

50

hereditary nephritis, sensorineural hearing loss, cataracts

alport syndrome (mutation in collagen IV)

51

hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-bucy syndrome (bilateral amygdala lesion

52

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

53

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

54

Hypoxemia, polycythemia, hypercapnia

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

55

Indurated, ulcerated genital lesion

Nonpainful: chancre (1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

56

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

Patau syndrome (trisomy 13)

57

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

Niemann-Pick disease (genetic sphingomyelinase deficiency)

58

Infant with hypoglycemia, failure to thrive, and hepatomegaly

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

59

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

Edwards syndrome (trisomy 18)

60

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

61

Large rash with bull’s-eye appearance

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

62

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

63

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

64

Mucosal bleeding and prolonged bleeding time

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

65

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

66

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

Gardner syndrome (subtype of FAP)

67

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

68

Neonate with arm paralysis following difficult birth

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

69

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

70

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

multiple sclerosis

71

Oscillating slow/fast breathing

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

72

Painful blue fingers/toes, hemolytic anemia

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

73

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extremities)

74

Painful, raised red lesions on pad of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

75

Painless erythematous lesions on palms and soles

aneway lesions (infective endocarditis, septic emboli/ microabscesses)

76

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

77

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

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

78

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

79

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

Nephrotic syndrome

80

Pink complexion, dyspnea, hyperventilation

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

81

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

Fanconi syndrome (proximal tubular reabsorption defect)

82

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

Lichen planus

83

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

84

Pupil accommodates but doesn’t react

Argyll Robertson pupil (neurosyphilis)

85

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

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

86

Rash on palms and soles

Coxsackie A
2° syphilis
Rocky Mountain spotted fever

87

Recurrent colds, unusual eczema, high serum IgE

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

88

Red “currant jelly” sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

89

Red “currant jelly” stools

Acute mesenteric ischemia (adults), intussusception (infants)

90

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

91

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

92

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

von Hippel-Lindau disease (dominant TSG mutation)

93

Resting tremor, rigidity, akinesia, postural instability

Parkinson disease (nigrostriatal dopamine depletion)

94

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

95

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

96

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

97

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

98

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

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

99

Single palmar crease

Down syndrome

100

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

101

Skin hyperpigmentation, hypotension, fatigue

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

102

Slow, progressive muscle weakness in boys

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

103

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

Koplik spots (measles; rubeola virus)

104

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (2° syphilis)

105

Splinter hemorrhages in fingernails

bacterial endocarditis

106

“Strawberry tongue”

Scarlet fever, Kawasaki disease, toxic shock syndrome

107

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

Turner syndrome (45,XO)

108

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

109

Swollen gums, mucosal bleeding, poor wound healing, petechiae

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

110

Swollen, hard, painful finger joints

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

111

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

112

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

113

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

114

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

115

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

116

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

117

Vascular birthmark (port-wine stain)

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

118

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

119

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

120

“Worst headache of my life”

Subarachnoid hemorrhage

121

labs: increase proteases, glycosylase, lipases

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

122

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

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

123

patient with sickle cell anemia should be vaccinated against what

pneumococcus

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

124

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

other toxin that has the same mxm?

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

125

sympathetic cholinergic neurons activation

diaphoresis

126

baby with chorioretinitis, hydrocephalus, and intracranial calcifications

congenital toxoplasmosis

127

patient with increased blood ammonium and urine orotic acid levels

defect in ornithine transcarbamoylase (see page 108 FA2014)

128

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

subarachnoid hemorrhage - berry aneurysms

129

patient with HTN and bradycardia

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

130

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

Klinefelter syndrome, XXY

131

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

Turner syndrome

132

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

double male, XYY

133

both ovary + testicular tissue are present, ambiguous genitalia

true hermaphroditism, 46XX or 47XXY

134

ovaries, but external genitalia are virilized or ambiguous.

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

135

testes, but external genitalia are feminized or ambiguous.

male pseudo-hermaphrodite; commonly due to androgen insensitivity

136

ambiguous genitalia
increased serum testosterone and androstenedione
maternal virilization during pregnancy

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

137

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

androgen insensitivity 46 XY

138

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

5a reductase deficiency

139

anosmia, infertility

kallmann syndrome

140

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

endometriosis

141

dysmenorrhea, menorrhagia
enlarged soft globular uterus

adenomyosis (endometrial cells invading into muscular part of uterus)

142

signs of menopause after puberty but before age 40

premature ovarian failure

143

ascites, hydrothorax, pulling sensation in groin

Meigs syndrome - ovarian fibroma - contains spindle shaped fibroblasts

144

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

Granulosa cell tumor (estrogen-secreting)

145

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

choriocarcinoma - increased hCG

146

abnormal uterine bleeding in a post-menopausal woman

thecoma

147

bloody dipple discharge

intraductal papilloma (grows in lactiferous ducts)

148

eezematous patches on nipple

Paget disease - malignant breast tumor that results from underlying DCIS

149

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

phyllodes tumor

150

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

invasive ductal breast tumor

151

peau d'orange breasts

inflammatory breast cancer; due to dermal lymphatic invasion.

152

painless, homogenous testicular enlargement

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

153

M w/ gynecomastia and hyperthyroidism
comes into the ER with a hemorrhagic stroke

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

154

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

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

155

aorta w/ tree-bark appearance

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

156

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

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

157

dermatitis, dementia, diarrhea

pellagra (niacin/Vit B3 deficiency)