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Undeleted > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

post-hepatic venous obstructions

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendone xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

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7
Q

Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

Back pain, fever, night sweats

A

pott disease (vertebral TB)

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10
Q

bilateral acoustic schwannomas

A

neurofibromatosis type 2

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11
Q

bilateral hilar adenopathy, uveitis

A

sarcoidosis (noncaseating granulomas)

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12
Q

black eschar on face of patient with diabetes ketoacidosis

A

mucor or rhizopus fungal infections

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13
Q

blue sclera

A

osteogenesis imperfecta (type 1 collagen defect)

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14
Q

bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis, increasing hat size, hearing loss, lion-like facies, isolated elevated alkaline phosphatase

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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16
Q 
Bounding pulses (wide pulse pressure), diastolic heart murmur, head bobbing, large LV stroke volume,
(heard in aortic Area , Sitting up and Listening with the bell of stethoscope)
A

Aortic regurgitation

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17
Q

“butterfly” facial rash and Raynauds phenomenon in a young female

A

SLE

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18
Q

cafe au lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

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

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19
Q

cafe au lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

neurofibromatosis type I, pheochromocytoma, optic gliomas

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20
Q

Calf pseudohypertrophy

A

muscular dystrophy (most common Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

fever, cervical lymphadenopathy, desquamating red rash, coronary aneurysms, myocarditis, red conjunctivae and tongue

A

Kawasaki disease (treat with IVIG and aspirin)

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22
Q

“cherry red spots” on macula

A

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

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23
Q

Chest pain on exertion

A

angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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24
Q

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

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

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25
Q

Chest pain with ST depression on EKG

A

unstable angina (troponins -) or NSTEMI (troponins +)

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26
Q

child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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27
Q

chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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28
Q

chorioretinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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29
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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30
Q

cold intolerance

A

hypothyroidism

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31
Q

conjugate horizontal gaze palsy, horizontal diplopia

A

internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)

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32
Q

continuous “machine like” murmur

A

PDA (close with indomethacin; open or maintain PGE analogs)

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33
Q

cutaneous/derm edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, graves disease [pretibial])

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34
Q

cutaneous flushing, diarrhea, bronchospasm

A

carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA

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35
Q

dark purple skin/mouth nodules in a patient with AIDS

A

kaposi sarcoma, associated with HHV-8

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36
Q

deep. labored breathing/hyperventilation

A

Kussmal respirations (diabetic ketoacidosis)

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37
Q

dermatitis, dementia, diarrhea

A

pellagra (niacin [vitamin B3] deficiency)

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38
Q

dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine {vitamin B1] deficiency)

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39
Q

dog or cat bite resulting in infection

A

pasteurella multocida (cellulitis at inoculation site)

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40
Q

dry eyes, dry mouth, arthritis

A

sjogren syndrome (autoimmune destruction of exocrine glands)

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41
Q

dysphagia (esphageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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42
Q

elastic skin, hypermobility of joints, increased bleeding tendency

A

ehlers danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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43
Q

enlarged, hard left supraclavicular node

A

virchow node (abdominal metastasis)

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44
Q

episodic vertigo, tinnitus, hearing loss

A

meniere disease

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45
Q

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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46
Q

facial muscle spasm upon tapping

A

chvostek sign (hypocalcemia)

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47
Q

fat, female, forty, fertile

A

cholelithiasis (gallstones)

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48
Q

fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-herxherimer reaction (rapid lysis of spirochetes results in endotoxin release)

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49
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

measles

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50
Q

fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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51
Q

fibrous plaques in soft tissue of penis with abnormal curvature

A

peyronie disease (connective tissue disorder)

52
Q

golden brown rings around peripheral cornea

A

kayser-fleischer rings (copper accumulation from wilson disease)

53
Q

gout, intellectual disability, self mutilating behavior in a boy

A

lesch-nyhan syndrome (HGPRT deficiency, x-linked recessive)

54
Q

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

55
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

A

gaucher disease (glucocerebrosidase deficiency)

56
Q

hereditary nephritis, senssorineural hearing loss, cataracts

A

alport syndrome (mutation in collagen IV)

57
Q

hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

58
Q

hyperrelexia, hypertonia, babinski sign present

A

UMN damage

59
Q

hyporeflexia, hypertonia, atrophy, fasciculations

A

LMN damage

60
Q

hypoxemia, polycythemia, hypercapnia

A

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

61
Q

indurated, ulcerated genital lesion

A

nonpainful: chancre (primary syphilis. treponema pallidum) painful, with exudateL chancroid (haemophilus ducreyi)

62
Q

infant with “cherry red” spot on macula, hepatosplenomegaly, and neurodegeneration

A

Niemann-Pick disease (genetic sphingomyelinase deficiency)

63
Q

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

A

Patau syndrome (trisome 13)

64
Q

infant with hypoglycemia, hepatomegaly

A

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

65
Q

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

A

edwards syndrome (trisomy 18)

66
Q

jaundice, palpable distended non-tender gallbladder

A

courvoisier sign (distal obstruction of biliary tree)

67
Q

large rash with bull’s eye appearance

A

erythema chronicum migrans from ixodes tick bite (lyme disease: Borrelia)

68
Q

lucid interval after traumatic brain injury

A

epidural hematoma (middle meningeal artery rupture)

69
Q

male child, recurrent infections, no mature B cells

A

Bruton disease (x-linked agammaglobulinemia)

70
Q

mucosal bleeding and prolonged bleeding time

A

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

71
Q

muffled heart sounds, distended neck veins, hypotension

A

beck triad of cardiac tamponade

72
Q

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

A

gardner syndrome (subtype of FAP)

73
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

74
Q

neonate with arm paralysis following difficult birth

A

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

75
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehand syndrome (pituitary infarction)

76
Q

mystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

multiple sclerosis

77
Q

painful blue fingers/toes, hemolytic anemia

A

cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)

78
Q

painful fingers/toes changing color from blue to white to red with cold stress

A

raynaud phenomenon (vasospasm in extremities)

79
Q

painful, raised red lesions on pads of fingers/toes

A

olser nodes (infective endocarditis, immune complex deposition)

80
Q

painless erythematous lesions on palms and soles

A

janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

82
Q

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

A

henoch schonlein purpura (IgA vasculitis affecting skin and kidneys)

83
Q

pancreatic, pituitary, parathyroid tumors

A

MEN 1 (autosomal dominant)

84
Q

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

A

nephrotic syndrome

85
Q

pink complexion, dyspnea, hyperventilation

A

pink puffer (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])

86
Q

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

A

fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

87
Q

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

A

lichen planus

88
Q

ptosis, miosis, anhidrosis

A

horner syndrome (sympathetic chain lesion)

89
Q

pupil accomodates but doesn’t react

A

argyll robertson pupil (neurosyphilis)

90
Q

rapidly progressive limb weakness that ascends following GI/ upper respiratory infection

A

guillain-bare syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

rash on palms and soles

A

coxsackie A, secondary syphilis, rocky mountain spotted fever

92
Q

recurrent cold (noninflamed) bscesses, unusual eczema, high serum IgE

A

hyper-IgE syndrome (job syndrome: neutrophil chemotaxis abnormality)

93
Q

red “currant jelly” sputum in alcoholic or diabetic patient

A

klebsiella pneumoniae pneumonia

94
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults), intussusception (children)

95
Q

red, itchy, swollen rash of nipple/areola

A

paget disease of the breast (sign of underlying neoplasm)

96
Q

red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

97
Q

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

A

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

98
Q

resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

99
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

100
Q

severe jaundice in neonate

A

Crigler-Nijjar syndrome (congential unconjugated hyperbilirubinemia)

101
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

103
Q

short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

A

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

104
Q

single palmar crease

A

down syndrome

105
Q

situs inversus, chronic sinusitis, bronchiectasis,infertility

A

Kartagener syndrome (dyenein arm defect affecting cilia)

106
Q

skin hyperpigmentation, hypotension, fatigue

A

primary adrenocortical insufficiency (ex. Addison disease) causes increased ACTH and increased alpha-MSH production)

107
Q

slow, progressive muscle weakness in boys

A

Beckler muscular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)

108
Q

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

A

Koplik spots (measles; rubeola virus)

109
Q

smooth, moist, painless, wart-like white lesions on genitals

A

condylomata lata (secondary syphilis)

110
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

111
Q

strawberry tongue

A

scarlet fever, Kawasaki disease

112
Q

streak ovaries, congential heart disease, horseshoe kidney, cystic hydroma at borth, short stature, webbed neck, lymphedema

A

Turner syndrome (45, XO)

113
Q

sudden swollen/painful big tow joint, tophi

A

gout/podagra (hyperuricemia)

114
Q

swollen gums, mucosal bleeding, poor wound healing, petechiae

A

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

115
Q

swollen hard, painful finger joint

A

osteoarthritis (osteophytes on PIP [bouchards nodes], DIP [Heberden nodes])

116
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic stenosis

117
Q

telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Oslr0weber-rendu syndrome

118
Q

thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

119
Q

thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutaiton)

120
Q

toe extension/fanning upon plantar scrape

A

babinski sign (UMN lesion)

121
Q

unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

122
Q

urethritis, conjunctivitis, arthritis in a male

A

reactive arthritis associated with HLA-B27

123
Q

vascular birthmark (port wine stain) of the face

A

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

124
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-weiss syndrome (alcoholic and bulimic patients)

125
Q

weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

126
Q

“worst headache of my life”

A

subarachnoid hemorrhage

127
Q

1) asteroid bodies within giant cells

2) Schaumann bodies (calcium and protein inclusions) within giant cells

A

sarcoidosis (noncaseating granulomas)

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